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Al-QUds University

Faculty of medicine

Pediatric

Almir Abd El Kader Qatmosh


5 th Year .. 20810916
Pediatric Cases .. 2013
TABLE OF CONTENTS
1. Fever 44 day ‫تالين عدوان‬
2. Skin Rash 31 day ‫أحمد أبو صبيح‬
3. Hyperbilirubinemia 30 day ‫بيان نصر‬
4. Recurrent abdominal pain 8.5 year ‫وسام وحشية‬
5. Bloody vomiting 5 3/12 year ‫ميسر عداس‬
6. Poor weight gain 8 month ‫ايهاب فضة‬
7. anemia and thrombocytopenia 4.5 year ‫نرمين الزغاي‬
8. Cough 3 2/12 year ‫فراس سلمي‬
9. Obesity 8 month ‫سديل الوريدات‬
10. Ear swelling 6 month ‫هنا منصور‬
11. Down & congenital heart disease 1 3/12 year ‫ميار داوود‬
12. Congenital heart disease. 3 month ‫عبد الرحمن سمور‬
13. Developmental regression 2 year ‫زين علي‬
14. Abnormal movement and 7 month ‫رهف خليل‬
15. Macrocephaly 8 month ‫محمد بسام‬
16. Autism and speech delay 3 9/12 year ‫غريب بن شمسة‬
17. Cushing 4.5 year ‫مرح الجليس‬
18. Congenital adrenal hyperplasia 4 month ‫ياسر القواسمة‬
19. Abnormal gait 4 8/12 year ‫زين لبد‬
20. Neonate 1 29 + week ‫طفل تالي فهيمة‬
21. Neonate 2 28 + week ‫طفل ماريا بوملي‬
CASE Name: ‫تالين محمد عدوان‬ Address: ‫ الطور‬- ‫القدس‬
Sex: Female Informant: Mother

1
DOB: 23 Feb 2013 Reliability: Good
Age: 44 Day Hx taken by: Almir Qatmosh

Patient profile:
Talin Adwan a 44 day old female infant was admitted to our hospital on 6 April 2013, with Chief
complaint of Fever one hour prior to admission.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:

The above mentioned 44 days old female infant, a product of C/S, with uneventful prenatal history,
full term, birth weight 2.540 Kg, weight at one month 2.390 Kg, so hospital formula was added,
current weight 2.660 Kg (added 270 grams in 14 days).

She was doing well till one hour prior to admission, when she had fever, 38 C rectally, with good
feeding and activity, no associated febrile convulsions cyanosis or loss of consciousness, decreased
consciousness level, vomiting, diarrhea, rash, dyspnea or cough.
No history of decreased activity.
No history of ear discharge. No history of conjunctivitis.
No history of night sweating.
No history of joint swellings.
No history of jaundice. No history of bleeding disorders.
No Kawasaki criteria.

Now she is on Materna formula 120 cc Q 8 hours, following breast feeding, which is about 6 times
per day.
Her mother and brother have upper respiratory tract infection. No family history FMF.

Past medical history:

Free medical, surgical and hospitalization history.


Not on any medications.
No known drug or food allergy.

Immunizations and vaccines:

Up to her age, according to Palestinian ministry of health vaccination schedule. With no reported
side effects.
Birth history:
mother complained pre-eclampsia.
Born at Bekor Holim Hospital, with birth weight of 2540 gram. 38 weeks gestation.
uneventful neonatal history.
Development:
Unresponsive smile and good eye to eye contact.

Feeding history:
Breast feeding Q 3 hours.
Materna Formula Q 8 hours.

Family history:
Parents are not relatives, No family history of serious diseases.

Social history:

Father 37 year old. ‫موظف حكومي‬, healthy.


Mother 28 year old, ‫مدرسة‬, healthy.
3 brothers (7, 5, 2 year), they are healthy.
The family live in their own house, with adequate rooms and goof ventilation, good socioeconomic
status, they are insured.
Physical Examination

Temp 38.5 C Wt. 2.7 kg < 3 SD BP. 82/40, normal for age
H.R 150 / min Ht. 48 cm <3 SD O2 Sat 99 %
R.R 50 / min HC 35 cm 2-SD CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed and not jaundiced, and not in
respiratory distress, afebril, stuffy nose.

Skin, Hair and Nails:


Normal skin, no lesions, no scars, normal hair, no clubbing, leuconychia or koilonychia.

Head and Neck:


No dimorphic features. Normal shape of the head, 2 x 2 cm open anterior fontanel, not plugged. No
jaundice and normal red reflex. No neck stiffness. E.N.T exam free.

Lymph nodes:
No lymph nodes enlargement.

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use
of accessory muscles. Normal Respiratory rate (50/min). No chest deformity. Symmetrical chest
movement with no chest retraction.
Auscultation: good air entry bilateral, normal vesicular breathing sound, . No other added sounds.
Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur.
Palpable femoral pulses bilateral. No radio radial or radio femoral delay.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, small umbilical hernia, no
scars, and no dilated vein.
Palpation: Soft lax Abdomen, liver palpable 2 cm below right costal marin, liver span 5.5 cm, spleen is
not palpable. No enlargement of the kidney. No ascites, hernial orifices are intact. Normal female
genetalia.
Percussion: tympanic all over.
Auscultation: audible bowel sound.
Back and spine:
No deformity.

Extremities:
No deformity, Normal arms, palmer creases, no joint swelling.
Palpable femoral pulses bilateral

Neurological and psychiatric:


Conscious and alert. Not irritable, no eye to eye contact, pupils are equaled reactive.
Normal muscle tone and power. +2 DTR. No clouns.
Good moro and good sucking.

Assessment
Talen Adwan 44 day old female infant, complain of fever 38 C rectally. No other associated
symptoms.
CASE Name: ‫احمد جالل أبو صبيح‬ Address: ‫راس العمود – القدس‬
Sex: Male Informant: Mother & Father

2
DOB: 24 Feb 2013 Reliability: Good
Age: 31 day old Hx taken by: Almir Qatmosh

Patient profile:
Ahmad Abu Sbeh 31 day old male infant was admitted to our hospital on 25 April 2013, with Chief
complaint Skin Rash for 3 days duration.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:


This 31 days old male infant, product of uneventful NSVD at our hospital, full term with birth wt. of
3,100 Kg, was doing well till 3 days ago when he developed skin rash in the morning over head and
trunk, macule, variable size but less 1 cm, non-itchy, regular borders, no bleeding, no discharge from it.

after few hours the baby developed vomiting for that the mother seek medical advised at OPC in
clallit center at ‫ راس العمود‬when she was advised to observe the rash and followed up at our hospital
OPC, the next day rash all over his body associated with vomiting 4-5 times yesterday, projectile after
feed, and was milky content, not bilious.

No abdominal distention, no Hx of fever or malaise, no Hx of diarrhea.


No history of conjunctivitis, no history of cough or coryza.
No history of exposure to person with rash or contact with ill person.
For that our OPC admitted him for further investigation and management.

Past medical history:

Past medical & surgical histories are free, never hospitalized before.
Current Medications: non
Allergies: NKDA

Immunizations and vaccines:


Hepatitis B vaccine only, no complications
He missed one month vaccines because the rash he developed, after the pediatric doctor sough him

Birth history:

Uneventful antenatal history.


Born at Al-makkased hospital, by NSVD, 39 weeks GA and B.W 3100 gram.
Jaundice at birth, serum billiruben 9. 1, discharged after 49 hours, level of phototherapy 12 (law
intermediate risk)
Development:

Good eye to eye contact, unresponsive smile.

Feeding history:

Breastfeeding Q 1-2 hours.


Vitamin D supplements.

Family history:

Parents are first cousin. No family history of the same condition, or any other childhood diseases or
syndromes.

Social history:
Father is 31 years work in building, and he is smoker.
Mother is 22 years, house wife.
They live in there own house which is healthy and good, with good socioeconomics status. They are
insured.

.
Physical Examination

Temp 38.5 C Wt. 3.8 kg mean BP. 80/47, normal for age
H.R 145 / min Ht. 54 cm mean O2 Sat 98 %
R.R 56 / min HC 37 cm mean CR time < 2 sec.

General Appearance:
Well, active not in respiratory distress ,pallor, not jaundiced, not cyanosed.

Skin, Hair and Nails:


Skin macula-papular rash, blenching on pressure, with skin erythema all over the body. No deformities.

Head and Neck:


Free E.N.T. Anterior fontanel is open 2 X 2 cm and flat, not plugged.
Pupils are symmetrical, reactive to light and normal red reflex.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use of accessory
muscles. Normal Respiratory rate (56/min).No chest deformity. Symmetrical chest movement with no chest
retraction. No scars, no intercostals, subcostal, or suprasternal retraction.
Auscultation: good air entry bilateral, normal vesicular and no added sounds.

.
Heart:
Inspection: No chest deformity, no visible pulsation and no scars.
Palpation: Apex beat on the forth ICS, midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur. No basal crackles.
Palpable femoral pulses bilateral.

Abdomen and Genitalia:


Inspection: Symmetrical, scaphoid abdomen. Abdomen moves with respiration, centrally located inverted
umbilicus, no scars, no visible peristalsis, no striae, no visible masses, and no dilated vein. Intact hernial
orifices.
Palpation: Soft lax Abdomen, no tenderness, no palpable masses, the liver is palpable 4 cm below costal
margins. spleen were not palpable. The kidneys were not palotable. No ascites, hernial orifices are intact.
Normal male genetalia.
Percussion: tympanic all over.
Auscultation: audible bowel sound.
Back and spine:

No deformity.

Extremities:
No deformities. Normal arms, palmer creases, no joint swelling
Palpable femoral pulses bilateral.

Neurological and psychiatric:


Conscious, and alert.. DTR +2, normal tone. No clonus,
Good eye to eye contact. Normal moro and good sucking.

Assessment

31 baby has skin rash and vomiting. On examination Skin macula-papular rash, blenching on pressure, with
skin erythema all over the body. Admitted to further evaluation and role out sepsis.
CASE Name: ‫بيان كامل نصر‬ Address: ‫رفح – غزة‬
Sex: Female Informant: Grandmother

3
DOB: 17 march 2013 Reliability: Good
Age: 30 day old Hx taken by: Almir Qatmosh

Patient profile:
Bayan Naser 30 day old female infant was admitted to our hospital on 17 April 2013, with Chief
complaint hyperbilirubinemia since birth.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:

The above mentioned infant patient is a of induced VD, GA 44 weeks, Birth weight=4000 gm, Mother
blood group is A+ with uneventfull prenatal Hx, Born at ‫ االمارات‬.‫م‬, discharged at age of 24 hours on
BF Q 2-3 hrs, the mother noticed yellowish discoloration all over the body, so she sought by OPC,
serum Bilirubin= 17 at level 12. Repeated measurements showed elevated serum Bilirubin, last one:
22.1. So he admitted in Europ hospital for phototherapy for 2 weeks, the baby did not improve, so
they transfer blood 4 times during that period, also did not improved. She is on BF Q 3 hours and S-
26 formula 60 cc q 2-3 hours, tolerated well, mother is satisfied about bottle feeding but she noticed
that her baby started to develop yellowish discoloration of the skin and sclera , and also she
mentioned that her breast fed is not good(she cant tolerate her baby breast feeding),bowel
movement: 3-4 times. baby weight on admission was 3650 gm.

No Hx of hypoactivity . no hx of oral intake.

No Hx of fever, diarrhea or vomiting, No hx of high pitch crying or abnormal movement. No hx of


urine discoloration. Opthalmic exam was normal.

So the patient was referred to our hospital for further management and investigation.

Past medical history:


Past medical & surgical histories are free.
Current Medications: non
Allergies: NKDA
Immunizations and vaccines:

hepatitis B vaccine only, no complications. According to PMH schedule.


.
Birth history:

Uneventful antenatal history.


induced VD, GA 44 weeks, Birth weight=4000 gm, Mother blood group is A+ with uneventfull
prenatal Hx, Born at ‫ االمارات‬.‫م‬. history of maternal bleeding after cut of the placenta.

Development:

Good eye to eye contact, unresponsive smile.

Feeding history:
Breastfeeding Q 1-2 hours.
S 26 60 cc Q 3 hours.

Family history:
Parents are first cousin. Family history of the same condition, No family history of any other
childhood diseases or syndromes.

Social history:
Father is 28 years work in building, and he is smoker.
Mother is 23 years, house wife.
They live in there own house which is healthy and good, with poor socioeconomics status. They are
insured.
.
Physical Examination

Temp 36.5 C Wt. 3.8 kg mean BP. 80/47, normal for age
H.R 155 / min Ht. 54 cm mean O2 Sat 98 %
R.R 49 / min HC 37 cm mean CR time < 2 sec.

General Appearance:
Well, active not in respiratory distress ,pallor, slightly jaundiced, not cyanosed .

Skin, Hair and Nails:


No skin rash or lesions.

Head and Neck:

Normal shape of the head and no dysmorphic features. AF: open, flat not plugging measuring about
4 X 3 cm. closed posterior fontanel. Normal sutures. Symmetrical face. No conjunctival hemorrhage,
jaundice of the sclera and normal red reflex bilateral. Normal shape, position, and size of ears. Patent
nasal cavity. Oral thrush in mouth, lip palate, tongue and chin. Normal neck and intact clavicles.

Lymph
. nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use of
accessory muscles. Normal Respiratory rate (49/min).No chest deformity. Symmetrical chest
movement with no chest retraction. No scars, no intercostals, subcostal, or suprasternal retraction.
Auscultation: good air entry bilateral, normal vesicular and no added sounds.

.
Heart:
Inspection: No chest deformity, no visible pulsation and no scars.
Palpation: Apex beat on the forth ICS, midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur. No basal crackles.
Palpable femoral pulses bilateral.

Abdomen and Genitalia:


Inspection: Symmetrical, scaphoid abdomen. Abdomen moves with respiration, centrally located
inverted umbilicus, no scars, no visible peristalsis, no striae, no visible masses, and no dilated vein.
Intact hernial orifices.
Palpation: Soft lax Abdomen, no tenderness, no palpable masses, the liver is palpable 2 cm below
costal margins. spleen were not palpable. The kidneys were not palotable. No ascites, hernial orifices
are intact. Normal male genetalia.
Percussion: tympanic all over.
Auscultation: audible bowel sound.
Back and spine:

No deformity.

Extremities:
No deformities. Normal arms, palmer creases, no joint swelling
Palpable femoral pulses bilateral.

Neurological and psychiatric:


Conscious, and alert.. DTR +2, normal tone. No clonus,
Good eye to eye contact. Normal moro and good sucking.

Assessment
This 30 days old female infant patient from Rafah, presented with hyperbilirubinemia since birth,
serum bilirubin=22.1,on examination was almost normal except jaundice with stable vital signs and
normal growth parameters ,no signs of dehydration.
CASE Name: ‫وسام عثمان حوشية‬ Address: ‫يطا – الخليل‬
Sex: Male Informant: Mother

4
DOB: 20 Nov 2004 Reliability: Good
Age: 8.5 year old Hx taken by: Almir Qatmosh

Patient profile:
Wesam Hoshyya, 8.5 year old male infant was admitted to our hospital on 16 May 2013, with Chief
complaint of recurrent abdominal pain, vomiting, and abdominal distension for 1,5 year duration,
for investigation and management.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:

Wesam was in his usual state of health till 1.5 year ago, when he started gradually to have
generalized abdominal pain, colicky in nature, not radiate and not referred. It was intermittent, with
each attack lasted for about 1 hour, with a frequency of 1 time daily. It was relieved slightly by
defecation, and the severe attack with acamol. It was aggravated by eating, with no relationship to
stress or school time. This was associated with vomiting with 2-3 times daily in frequency, of
undigested food, of same amount of the eating food, 5 minutes after a meal. There was no history of
haematemesis or bilious vomiting. It also associated with abdominal distention, relieved mildly by
defecation.

He has a history of loss of appetite, weight loss (undocumented).


He has a history of recurrent constipation of hard stool with hard defecation (1stool/ 3 days).

There was no history of fever, diarrhea, hematechezia, or melena.


There was no history of dysuria, frequency, urgency, or hematuria.
There was no history of aphthus ulcer, arthritis, or skin lesions.

There was no history of headache, swallowing difficulties, or visual disturbances.


There was no history of jaundice.

He has a positive family history of FMF and Behjet disease (his brother)
He has a positive family history of adult IBD (his ant)
He has no family history of peptic ulcer disease, migraine, chronic abdominal pain, or celiac disease.
Past medical history:

Hospitalization: at age of 1 year, for 2 days for head trauma and he was well.
At age of 1year and 2 months, for 5 days for another head trauma.
Diseases: free.
No history of operation.
Medications: acamol as needed. Allergies: no known drugs or other foods allergy.
Immunizations and vaccines:
Up to his age. Never missed a vaccine. With no reported side effects or complication and according
to Palestinian ministry of health schedule.

Birth history:
Antenatal History: The mother has history of recurrent UTI, treated by antibiotic, in the 1st, 2nd, and
3rd trimester of pregnancy.
Natal History: This baby was born on 6/12/2007 at Ramallah Hospital, is a product of NSVD. GA: 36
weeks. Birth Wt.: 2700g. Maternal blood group and baby blood groups are unknown.
Neonatal History: Uneventful.

Development:

Gross motor: walks steadily, jumps over object, and run


Fine motor: can draw cycle, and write her name.
Speech: can speak, and sing.
Social: playing with other children, and socially active.

Feeding history:

He eats table food with no chocking, with good tolerance except in time of abdominal pain. .

Family history:
Parents are not relatives. The father is 33 years old; the mother is 32 years old. He has 1 brother has
FMF and Behjet disease. And 1 sister who is healthy.

Social history:

Father is a laborer, Mother is a housewife. They live with their owned good-ventilated house (3
rooms) with a fair socioeconomic state. Insurance with Palestinian Governmental insurance. The
father is smoker.
Physical Examination

Temp 36.5 C Wt. 25 kg 25-50% BP. 104/62, normal for age


H.R 80 / min Ht. 128 cm 25-50% O2 Sat 99 %
R.R 26 / min HC 52 cm Mean CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress.

Skin, Hair and Nails:


The skin looked normal, except for one café aue lau spot on the left side of her neck, measured 7mm
in the largest diameter, and she has scratch marks on the back of her both calf. Normal hair, no hair
loss or brittle hair. Nails: normal nails in size and shape.(no clubbing).
Head and Neck:
Normal shape of the head and no dysmorphic features. No jaundice and normal red reflex and
reactive pupils bilaterally. Normal shape, position, and size of ears. Patent nasal cavity. Normal
mouth, lip palate, tongue and chin. No ulcers, but she has several dental caries. Normal neck and
intact clavicles. E.N.T exam free.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use of
accessory muscles. Normal Respiratory rate (26/min).No chest deformity. Symmetrical chest
movement with no chest retraction. No scars, no intercostals, subcostal, or suprasternal retraction.
Palpation: No tenderness, with normal tactile vocal fremitus.
Percussion: resonance all over the lungs.
Auscultation: good air entry bilateral, normal vesicular and no added sounds.

. Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS, midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur. No basal crackles.
Palpable femoral pulses bilateral.

.
Abdomen and Genitalia:

Inspection: Symmetrical, scaphoid abdomen. Abdomen moves with respiration, centrally located
inverted umbilicus, no scars, no visible peristalsis, no striae, no visible masses, and no dilated vein.
Intact hernial orifices.
Palpation: Soft lax Abdomen, no tenderness, no palpable masses, no organomegaly, the liver and
spleen were not palpable. The kidneys were not palotable. No ascites, hernial orifices are intact.
Normal male genetalia.
Percussion: tympanic all over.
Auscultation: audible bowel sound.

Back and spine:

No deformity, no scars, or pigmentation. No sacral edema.

Extremities:

Normal arms, palmar creases, no joint swelling.


Palpable femoral pulses bilateral.

Neurological and psychiatric:

Conscious, oriented, and alert. She has normal gait. DTR +2, normal tone, Power 5/5. Cranial nerves
all are intact.

Assessment

Wesam, is 8.5 years old male, was admitted with 1.5 year history of recurrent abdominal pain,
vomiting, and abdominal distention. She has also constipation and loss of appetite. She has a positive
family history of FMF, Behjet disease, and adult IBD. Physical examination showed his weight
between -2 and -3 SD.
CASE Name: ‫ميسر سفيان عداس‬ Address: ‫البيرة – رام هللا‬
Sex: Female Informant: Mother

5
DOB: 10 Feb 2008 Reliability: Good
Age: 5 3/12 year old Hx taken by: Almir Qatmosh

Patient profile:

Myaser Addas , a 5 & 3/12 years old female patient from Gaza, was admitted on the 5 May 2013,
with a chief compliant of bloody vomiting for 2 months duration.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:

The above mentioned patient was in her usual state of health till 2 months ago when coffee ground
vomiting, non projectile of gastric content small in amount up to small coffee cup 2-3 times between
each 2 -3 hours not associated with diarrhea or abdominal pain or dizziness or fainting or abdominal
distension and not related to food and without Wt loss or changing in stool color or skin color or oral
ulcers.

The family sought medical advice at Ramallah hospital and the patient was admitted and treated
with ratidin then discharged home on the same medication.

Two days later to the discharge the patient developed the same symptoms mentioned above but
with once vomiting only and abdominal pain that is sever (make her cry) not relieved by analgesia
and not localized.

The patient has strong family hx of liver diseases and B-thalasemia

Admitted for further investigations and management.

Past medical history:

No history of major illnesses, recurrent infection, hospitalization, operation, or accident/injury.


NKDA. Current medications: RatidinX 3

Immunizations and vaccines:

Up to her age. Never missed a vaccine. With no reported side effects or complication and according
to Palestinian ministry of health schedule.
Birth history:

This child was born on 10/02/2008 at red crescent Hospital, is a product of NSVD. GA: FT. Birth Wt.:
2650gm.
Uneventful Antenatal and neonatal history.

Development:
Motor (gross and fine) : good .she can walk run around as her age

language and social : good ,interact well and speak adult speech

at kinder garden

Feeding history:

She eats table food, with no reported allergy.

Family history:

The parents are not relatives, there is significant family history of liver disease and B- thalasemia.

Social history:
Father 35 years, ‫نجار‬, healthy. Mother 27 years, House Wife, Healthy
she has 2 brother and one sister, one borother has liver disease and B- thalasemia trait, her sister is
B- thalasemia carrier, the other brother is healthy.
They live in owned house with good ventilation and adequate rooms , his father is smoker. good
socioeconomic status . They have MOH insurance.
Physical Examination

Temp 37 C Wt. 14 kg - 2 SD BP. 110/70, normal for age


H.R 70 / min Ht. 105 cm mean O2 Sat 100 %
R.R 38 / min HC 51 cm mean CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress.

Skin, Hair and Nails:


No skin lesions. No skin rash, no purpura, no palmer erythema. No dryness of skin. Normal hair, no
hair loss or brittle hair. Nails: no clubbing, no leuconychia, no koilonychia..
Head and Neck:

Head size and shape are normal, anterior fontanel is open 2.5x2.5 cm and flat, posterior fontanel is
closed. Pupils are symmetrical, reactive to light, normal red reflux bilateral.
Dysmorphic features: depressed nasal bridge and prominent forehead.
E.N.T exam free.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use
of accessory muscles. Normal Respiratory rate (38/min). No chest deformity. Symmetrical chest
movement with no chest retraction.
Auscultation: good air entry bilateral, normal vesicular breathing sound, . No other added sounds.
Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur.
Palpable femoral pulses bilateral. No radio radial or radio femoral delay.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, centrally located inverted
umbilicus, no scars, and no dilated vein
Palpation: Soft lax Abdomen, there is hepatomegaly(3.5cm below costal margin liver span 8.5,the
liver edge is smooth and not nodular surface ,there are splenomegaly. No ascites, hernial orifices are
intact. Normal female genitalia. Percussion: tympanic all over.
Auscultation: audible bowel sound.
Back and spine:
No deformity.

Extremities:
No joint swelling, free joint movements.
Palpable femoral pulses bilateral.

Neurological and psychiatric:

Conscious, oriented, and alert. The gait couldn't be appreciated, because the child can't walk. DTR +2,
normal tone, Power 5/5. Cranial nerves all are intact. Abnormal shaky movements, increased with
crying. No tremor, no nystagmus.

Assessment

Myasar addas is 4years and 8 months old female with strong family hx of b thalassemia and liver
diseases came with recurrent attack of coffe ground vomiting and in the last attack with abd pain and
vomiting (coffee ground) in exam there are hepatomegaly (8.5cm) and splenomegaly other wise free
referred for evaluation and management

.
CASE Name: ‫ايهاب هاني فضة‬ Address: ‫الزبابدة – جنين‬
Sex: Male Informant: Mother

6
DOB: 28 Aug 2012 Reliability: Fair
Age: 8 month old Hx taken by: Almir Qatmosh

Patient profile:
Ihab Fida a 8 month old male infant was admitted to our hospital on 17 April 2013, with Chief
complaint of poor weight gain since 3 months.
History was taken by Almir Qatmosh, from the mother with good reliability.
History of present illness:

This 8 month old infant is a full term, product of CS, due to maternal causes, birth weight 3500
gram,he was admitted to the NICU for 10 days due to meconium aspiration, 3 month ago the mother
noticed that he didn’t gain weight properly.

She sought medical advice at OPC , the baby diagnosed as a case of hypothyrodisim and treated with
l-thyroxin -25mg every other day- but he his weight didn’t changed .he seen by many doctors since
that and different formulas was tried.

The baby was initially started on exclusive breast feeding then the mother add formula after one
month (she think her son need more milk) , and over the last three months she changed different
formula ( materna –S26 – similac – nutramigen)and recently add smoothed food .

The baby also vomited 5 min after every meal, non projectile, small amount, of stomach contents.
No history of diarrhea , weight loss, jaundice or abdominal distention.
No history of fever, cough or recurrent chest infection.

Past medical history:

Past Medical History: as mentioned


Hospitalizations: he was admitted to caritas baby hospital 1 month ago for investigation. He
Discharged according to the mother without final diagnosis.

Operations: none.
Current Medications: l- thyroxin 25 mg/every other day
Allergy: No Known Drug or Food Allergy.

Immunizations and vaccines:

Up to age. Never missed a vaccine. With no reported side effects or complication and according to
Palestinian ministry of health schedule.
Birth history:

Antenatal: poor weight gain 1 kg till 28 wks , then he gain weight rapidly till birth 3.5kg without any
intervention.
Natal: born at Jenin hospital by CS , full term.
Neonatal :mentioned.

Development:

GM: cant set alone, creeps or lefts head and shoulders off couch.

FM: cant transfer objects from hand to hand, immature palmer grasp.

Speech: vocalize

Social: smile responsively , no stranger anxiety.

Feeding history:

Mentioned.

Family history:

Parents are not relative. He has one sister 3.5 years healthy.
No family history of the same condition, or any other childhood diseases or syndromes.

Social history:

His father 34 years old laborer at Israel, studied till 11th grade, he is smoker and healthy.
His mother 25 house wife, studied till 8th grade, healthy.
The family live in 2nd floor with husbands' family, 2 rooms with good status and ventilation. No pets
at house. There socio-economic status is good.
Physical Examination

Temp 38.4 C Wt. 4.9 kg -3 SD BP. 90/50, normal for age


H.R 110 / min Ht. 69 cm -3 SD O2 Sat 97 %
R.R 32 / min HC 41.5 cm -2 _-3SD CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress. Dysmorphic feature(prominent forehead, depressed nose, large cupped ears,
bilateral semian creases).

Skin, Hair and Nails:


No skin lesions. No skin rash, no purpura, no palmer erythema. No dryness of skin. Normal hair, no
hair loss or brittle hair. Nails: no clubbing, no leuconychia, no koilonychia.
Head and Neck:

Head’s size is small and shape are abnormal- prominent forehead- Open AF ,flat , measured 1*2 cm
Pupils are symmetrical, reactive to light and normal red reflex. E.N.T exam free.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: Chest is symmetrical, no deformity, no scars, no pigmentation, no dilated veins, there are
no retractions.
Palpation: Trachea is centrally located. Auscultation: good air entry bilateral, normal vesicular
breathing sound, no added sounds.

Heart:
Inspection: No chest deformity, no visible pulsation and no scars.
Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur.
Palpable femoral pulses bilateral. No radio radial or radio femoral delay.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, centrally located inverted
umbilicus, no scars, and no dilated vein
Palpation: Soft lax Abdomen, no hepatosplenomegaly. No ascites, Right reducable inguinal hernia
Micropenis and testicles are not palpable.
Percussion: tympanic all over.
Auscultation: audible bowel sound.

Back and spine:


No deformity.

Extremities:
bilateral seminal creases, otherwise normal.
Palpable femoral pulses bilateral.

Neurological and psychiatric:


the baby lies comfortable at his bed, not irritable , in flexion position , spontaneously moving her
limbs & smiles responsively.DTR: +2

Assessment

Ihab Fida, 8 month old male infant, presented with poor weight gain since 3 months despite changing
the type of formulas. Diagnosed as case of hypothyrodisim and treated with l-thyroxin -25mg every
other day- but he his weight didn’t changed. History of vomiting after every meal. On examination,
he has some dysmorphic features, reducible inginal hernia.
CASE Name: ‫نرمين معن الزغاي‬ Address: ‫بيت لحم‬
Sex: Female Informant: Mother

7
DOB: 23 Nov 2008 Reliability: Good
Age: 4 6/12 year old Hx taken by: Almir Qatmosh

Patient profile:
Nirmen Al- Zghari, 4.5 year old female child was admitted to our hospital on 1 may 2013, Referred
with Chief complaint of severe anemia and thrombocytopenia for investigation and management.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:

This 4 year and 6 month old female child is a known case of anemia and thrombocytopenia, treated
with allow 3cm*1 found on regular follow up to has severe anemia HgB=2.5, and thrombocytopenia,
for that she was admitted to Beit Jala hospital for management given 4 doses of IgG immunoglobulin
iv, and referred to our hospital for farther investigation and management.

Her story started at age of 16 months when she developed red palpable rashes after ingestion of
fovea beans. Since that she was admitted multiple times to beit jala hospital given many doses of
platelets and blood transfusion.

She was admitted to our hospital one year ago BM was showed hypoactive bone marrow and absent
megakaryocytic but no malignant cells.

She has history of bruises after minor trauma, petichea and recurrent epistaxis
No history of weight loss, night sweating, cough or recurrent chest infection.
No history of fever, joint swelling or pain.
No history of blood in urine or dark stool.

Past medical history:

Past Medical History: as mentioned


Hospitalizations: she was admitted many times (>10) to beit jala hospital for anemia and
thrombocytopenia and once to caritas baby hospital 2 months ago for chest infection.
Operations: none.
Current Medications: allow 3 cm X 1
Allergies: NKDA
Immunizations and vaccines:

Vaccines and Immunizations: Up to age according to Palestinian Ministry of Health Program, with no
side effects, the mother doesn’t the vaccination card
Birth history:

Antenatal: uneventful.
Natal: born at holy family hospital by NSVD, full term.BWT:2700g.
Neonatal: uneventful.

Development:

GM: runs.
FM: draws across.
Speech: adult speech.
Social: dress herself, play with others.

Feeding history:

Nido 150 cc X 4 , table food, 3 meals per day.

Family history:
Parents are first cousin twice remove. He has one brother 5.5 years healthy No family history of the
same condition, or any other childhood diseases or syndromes.

Social history:

Mother is a house wife 26y , father is laborer 30y and both are healthy.
The family live in their own house, 4 rooms with good status and ventilation. No pets at house.
There socio-economic status is good. They are insured.
Physical Examination

Temp 36.5 C Wt. 12 kg -2_-3 SD BP. 92/63, normal for age


H.R 120 / min Ht. 95 cm -2 SD O2 Sat 96 %
R.R 30 / min HC 50 cm mean CR time < 2 sec.

General Appearance:
Well, active not in respiratory distress ,pallor, slightly jaundiced, not cyanosed. Cushinoid face.

Skin, Hair and Nails:


Multiple burises on extremities and leukonychia and fragile nails.

Head and Neck:


Buffy face.
Dry blood on the nostrils.
Pupils are symmetrical, reactive to light and normal red reflex.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use
of accessory muscles. Normal Respiratory rate (30/min). No chest deformity. Symmetrical chest
movement with no chest retraction.
Auscultation: good air entry bilateral, normal vesicular breathing sound, . No other added sounds.
Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur.
Palpable femoral pulses bilateral. No radio radial or radio femoral delay.

Abdomen and Genitalia:


Inspection: distended abdomen, abdomen move with respiration, centrally located inverted
umbilicus, no scars, and no dilated vein
Palpation: Soft lax Abdomen, no hepatosplenomegaly. No ascites, hernial orifices are intact. Normal
female genitalia.
Percussion: tympanic all over.
Auscultation: audible bowel sound.
Back and spine:
No deformity.

Extremities:
Many bruises, otherwise normal.
Palpable femoral pulses bilateral.

Neurological and psychiatric:


she lies comfortable at her bed, not irritable, conscious ,alert .normal tone and power.
DTR: knee +2 bilateral.
No tremor, no nystagmus.

Assessment

Nirmen Al- Zghari 4 year and 6 month old female child is a known case of anemia and
thrombocytopenia, treated with allow 3cm*1.she now has severe anemia HgB=2.5, and
thrombocytopenia, she has some bruises, petichea and recurrent epistaxis.
CASE Name: ‫فراس سلمي‬ Address: ‫بيت حنينا – القدس‬
Sex: Male Informant: Mother

8
DOB: 17 March 2010 Reliability: Good
Age: 3 2/12 year old Hx taken by: Almir Qatmosh

Patient profile:
Firas salame, 3 2/12 year old male child, was admitted to our hospital on 21 may 2013, with Chief
complaint of Cough and fever for 1 week duration.
History was taken by Almir Qatmosh, from the mother with good reliability.
History of present illness:
The above mentioned patient, was in his usual state of health till 1 week prior to admission, when he
developed dry cough, no sputum, worsen at night and early morning, and it awaked him from
sleeping many times. Associated with fever measured axilary 39-40 C, decreased by Advil children
(ibuprofen 10 cc Q 4-6 hours).

The patient also developed Diarrhea 4 times per day, small amount, watery not bloody, not mucoid.
There is also history of vomiting, 3-4 times per day, small amount of normal gastric content
proceeded by cough, no blood and no bile in the vomits.
History of decreased physical activity, lethargy and poor feeding.

So he was seen by Dr. Hatem Khmash as OPC, diagnosed as a case of follicular tonsillitis, he was given
Augmentin (5 ml x 2), then he was seen at OPC at al Makassed Hospital, and added Azithromycin (5
ml x 2).

The cough didn’t improve, and the fever persists. So he was admitted to our hospital. Chest X-ray was
done and showed infiltration at the right side.

No history of similar condition. His sister had a similar condition few days ago.
No history of shortness of breath, hemaptosis, head ache, ear pain, chest pain or abdominal pain.
No history of runny nose, skin rash or joint pain.
No history of recent travel. He is not in school or nursery. No history of improvement of nebulizer.
Family history of eczema (his father), no family history of Asthma, TB or recurrent chest infections.
Past medical history:
Free medical and surgical history. He is never hospitalized.
Current medications: Augmentin (5 cc x 2)
No known drug or food allergy. No other allergies to pollen, dusts or pets.
Immunizations and vaccines:
Up his age, never missed a vaccine, with no reported side effects or complication and according to
U.S.A schedule.
Birth history:

Uneventful ante natal history.


Born at Kaiser Hospital at U.S.A, with birth weight of 3530 gram.
Baby and mother blood group is A+
Uneventful neonatal history.

Development:
Gross motor: Ride a tricycle, run and jump.
Fine motor: Draw a circle, mature pincer grasp, can feed himself.
Speech: Good, can talk a full sentence in both Arabic and English.
Social: Interactive, play with his siblings and friends.

Feeding history:
Table food, can feed himself, 3 meals per days, and snacks between meals.

Family history:
Parents are not relatives.
His sister had a similar condition few days ago.
Family history of eczema (his father). No family history of Asthma, TB or recurrent chest infections.

Social history:

Father is 35 year old, Freelancers, finished tawjehi, healthy, and he smokes argela.
Mother is 29 year old, house wife, finished tawjehi, healthy.
One brother 8 year old and 2 sisters 9 and 4 year old, all are healthy.
The family live in their own house, 4 rooms, good condition and ventilation, good socioeconomic
status, not insured.
Physical Examination

Temp 36.5 C Wt. 21 kg >97 % BP. 110/60, normal for age


H.R 110 / min Ht. 104 cm at 97% O2 Sat 98 %
R.R 34 / min HC 50 cm mean CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, and not in respiratory distress.

Skin, Hair and Nails:


Normal skin, no lesions, no scars, normal hair, no clubbing, leuconychia or koilonychia.

Head and Neck:


No dysmorphic features. Redness in both eyes, normal tympanic membrane, tonsils are enlarged,
congested and exudative.

Lymph nodes:
Left cervical lymph node enlargement, only one is palpable, which is small (0.5 x 0.5) soft, not tender,
not mobile, no skin changes over it.

Lungs and Thorax


Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use
of accessory muscles. Normal Respiratory rate (34/min). No chest deformity. Symmetrical chest
movement with no chest retraction.
Auscultation: good air entry bilateral, normal vesicular breathing sound, fine inpiratory crackles on
the right upper zone. No other added sounds.
Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur.
Palpable femoral pulses bilateral.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, centrally located inverted
umbilicus, no scars, and no dilated vein
Palpation: Soft lax Abdomen, no hepatosplenomegaly. No ascites, hernial orifices are intact. Normal
male genitalia with descended both tests.
Percussion: tympanic all over.
Auscultation: audible bowel sound.
Back and spine:
No deformity.

Extremities:
Normal arms, palmer creases, no joint swelling.
Palpable femoral pulses bilateral
Neurological and psychiatric:

Conscious, oriented and alert. Pupils are equaled reactive. Normal muscle tone and power. +2 DTR.
Normal gait.

Assessment

3 year old male patient, with history of cough, fever, vomiting and diarrhea one week prior to
admission. On examination, both eyes are red, the tonsils is enlarged, congested and exudative.
There is cervical lymph node enlarged. Fine crackles on the right upper zone. Chest X-ray showed
right lung infiltration.
CASE Name: ‫سديل رائد الوريدات‬ Address: ‫الظاهرية – الخليل‬
Sex: Female Informant: Mother

9
DOB: 27 July 2012 Reliability: Good
Age: 8 months old Hx taken by: Almir Qatmosh

Patient profile:
Sadil El Wradat is 8 months old female infant was admitted to our hospital on 23 March 2013, with
Chief complaint of Obesity (12,820 Kg) and Brain atrophy.
History was taken by Almir Qatmosh, 5th year medical student, from the mother with good reliability.

History of present illness:

The above mentioned 8 months old female infant of Diabetic mother, was born by NVD, birth weigh
was 4300 grams, she is on breastfeeding, she was diagnosed to have Reactive Airway Disease at age
of 25 day.

Two months ago she was admitted to Alia Hospital for one week, complaining of fever (39 C) for 2
days documented by her mother taken rectally, associated with shortness of berth and dry cough.
Chest X-Ray was done and started on antibiotics (Recophine and Penicillin). The baby was noted to
be obese and brain CT-scan was done, showed Brain atrophy.

She was complain of constipation at age of 4 months till now, she also complain of excessive
sweating.
She is on Breastfeeding Q 3 hours and smashed food, not on any type of formulas or other milk.
Cushing cortisol study was done and was normal.

No history of jaundice, cyanosis, or chills.

No history of vomiting, diarrhea or abdominal pain.

Family history of large babies and Reactive Airway Disease.

Past medical history:


She is a known case of RAWD, and was admitted several times at Alia Hospital for due to RAWD.
Current Medications: non
Allergies: NKDA

Immunizations and vaccines:


Still has not tack the 6th month vaccines, because of her illness. According to Palestinian Ministry of
Health Program, with no recorded vaccination side effects.
Birth history:
Antenatal: Infant of Diabetic mother, Polyhydramnios ..
Natal Born at Alia Hospital by NVD, 38 week, birth weight 4300 gm, Blood Group unknown and
Mother Blood Group is A+..
Neonatal: admitted uneventful.

Development:

Gross motor: Can sit with support, but can't roll.


Fine motor: Transport objects.
Language: coos.
Social /Cognitive: Can laugh and Cry.

Feeding history:

Brest feeding, Smashed food, Vit A & D supplements.

Family history:
She has 2 brothers , 1 sisters .Two of them were born large for gestational age. All of were
complaining of Reactive Airway Disease.

Social history:
Father 33 years, work at Israel, healthy. Mother 33 years, House Wife, Diabetic.
They live in owned house with good ventilation and adequate rooms , her father is smoker (Argela).
good socioeconomic status. They are insured.
Physical Examination

Temp 36.5 C Wt. 13 kg > 3 SD BP. 83/60, normal for age


H.R 124 / min Ht. 67 cm at 2 SD O2 Sat 99 %
R.R 44 / min HC 45.5 cm mean CR time < 2 sec.

General Appearance:
Well, active not in respiratory distress ,pallor, not cyanosed. Cushinoid face, looks obease.

Skin, Hair and Nails:


No skin lesions. Normal nails color and shape

Head and Neck:

Soft dimorphic features of head, anterior fontanel open and flat, small forehead, full checks, up
slanting eyes.

Lymph nodes:

No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use of
accessory muscles. Normal Respiratory rate (44/min).No chest deformity. Symmetrical chest
movement with no chest retraction. No scars, no intercostals, subcostal, or suprasternal retraction..
Percussion: resonance all over the lungs.
Auscultation: good air entry bilateral, normal vesicular and no added sounds.
Heart:
.

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS, midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur. No basal crackles.
Palpable femoral pulses bilateral.

Abdomen and Genitalia:

Inspection: Symmetrical. Abdomen moves with respiration, centrally located inverted umbilicus, no
scars, no visible peristalsis, no striae, no visible masses, and no dilated vein. Intact hernial orifices.
Palpation: Soft lax Abdomen, no tenderness, no palpable masses, liver and spleen are not palpable.
The kidneys were not palotable. No ascites, hernial orifices are intact. Normal female genetalia.
Percussion: tympanic all over.
Auscultation: audible bowel sound.
Back and spine:

no deformity, no renal angle tenderness. Flat pad.

Extremities:
No muscle weakness was noticed, no joint swelling and no joint movement limitation. No edema,
intact peripheral pulses.

Neurological and psychiatric:


Conscious, and alert.. DTR +2, normal tone, Power at least 3/5.
No clonus, no babenski.

Assessment

The above mentioned 8 months old female infant with: RAWD, Obesity and Brain atrophy..
CASE Name: ‫هنا محمد منصور‬ Address: ‫رام هللا‬
Sex: Female Informant: Mother

10
DOB: 2 Oct 2012 Reliability: Good
Age: 6 months old Hx taken by: Almir Qatmosh

Patient profile:
Hana Mansor is 6 months old female infant was admitted to our hospital on 7 April 2013, with Chief
complaint of Right ear swilling since 2.5 month of age.
History was taken by Almir Qatmosh, 5th year medical student, from the mother with good reliability.

History of present illness:

This 6 month old female infant a first part of triplet, by induction of ovulation, a product of C/S at 32
weeks gestational age, at PMC with birth weigh of 1600 grams, and admitted to NICU for 23 days due
prematurity.

She was in her usual state of health till 2.5 month of age when mother noticed right ear swelling
in prei-auricular area, in front and inferior to auricle, then mother sought medical advice at ENT out
patient clinic, where she was reassured without any medical management. Then she was seen by Dr.
Sameer Khalil who ordered for Head MRI, which showed " a lobulated lesion of mixed intense but
mainly hyper instance with internal vasculature structure. It measures 3X1.4X2 cm, and lies in right
pre-auricular region superficial to right parotid gland and posterior portion of massetar muscle
causing scalloping of the anterior surface of parotid gland, such lesion mostly present hemangioma.

CSF spaces and ventricles for patients age donating mild generalized atrophic brain changes.
Posterior preiventricular CSF intensity area mostly presenting intr-uterine insults (leukomalacia).

One month prior to admission the mother noticed another similar lesion but smaller on the
inferior to the left scapula. And states that her daughter has right upper chest hyper pigmentation
since birth.

The patient was referred to our hospital for further evaluation and management.

Past medical history:


Past medical & surgical histories are free, never hospitalized before.
Current Medications: non
Allergies: NKDA

Immunizations and vaccines:


Up to her age, following Palestinian MOH program, with no reported side effect. No additional
vaccine. .
Birth history:
Antenatal first part of triplet, by induction of ovulation, second female and third male are healthy.
Natal: born at Palestinian medical complex hospital by CS, 32 weeks. BWT: 1600 grams.
Neonatal: admitted to NICU for 23 days due to prematurity.

Development:

GM: Sit with support, roll over.


FM: Transfer objects.
Speech: Coos.
Social: eye to eye contact, social smile, and laugh.

Feeding history:
Materna 120 cc Q 3 hours.

Family history:
Parents are first cousin. No family history of the same condition, or any other childhood diseases or
syndromes.

Social history:
Father 30 year old, ‫موظف حكومي‬. Healthy, not smoker. Mother 19 year old, house wife. Healthy.
One brother 6 months healthy, third part of triplet. Two sisters, 2 year old, and second part of triplet,
they are healthy.
They live in their own house with good condition and ventilation, good socio-economic status, and
the are insured.
Physical Examination

Temp 36.5 C Wt. 7.3 kg mean BP. 96/57, normal for age
H.R 123 / min Ht. 63 cm -2 to 0 SD O2 Sat 90 %
R.R 36 / min HC 42 cm -1to 0 SD CR time < 2 sec.

General Appearance:
Well, active not in respiratory distress ,pallor, slightly jaundiced, not cyanosed. Cushinoid face.

Skin, Hair and Nails:


Right sub-cutaneous clavicular discoloration, about 1.5 cm in largest diameter, raised elevated not
blenching, 5 cm from midline. (strawberry appearance).

Head and Neck:


peri-auricular swilling about 3.5X3.5 cm soft, not tender, bluish discoloration, not hot, nor red, not
pulsatile, no thrill, filling tragus area and closing right EOC, open anterior fontanel about 1X1 cm.
Pupils are symmetrical, reactive to light and normal red reflex.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use of
accessory muscles. Normal Respiratory rate (36/min).No chest deformity. Symmetrical chest
movement with no chest retraction. No scars, no intercostals, subcostal, or suprasternal retraction.
Palpation: No tenderness, with normal tactile vocal fremitus.
Percussion: resonance all over the lungs.
Auscultation: good air entry bilateral, normal vesicular and no added sounds.

.
Heart:
Inspection: No chest deformity, no visible pulsation and no scars.
Palpation: Apex beat on the forth ICS, midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur. No basal crackles.
Palpable femoral pulses bilateral.

Abdomen and Genitalia:


Inspection: Symmetrical, scaphoid abdomen. Abdomen moves with respiration, centrally located
inverted umbilicus, no scars, no visible peristalsis, no striae, no visible masses, and no dilated vein.
Intact hernial orifices.
Palpation: Soft lax Abdomen, no tenderness, no palpable masses, the liver is palpable 4 cm below
costal margins. spleen were not palpable. The kidneys were not palotable. No ascites, hernial orifices
are intact. Normal female genetalia.
Percussion: tympanic all over.
Auscultation: audible bowel sound.

Back and spine:


Swilling about 3X3 cm inferior to left scapula, soft bluish discoloration not hot nor red, not tender.
No deformity, no scars. No sacral edema.

Extremities:
No deformities. Normal arms, palmar creases, no joint swelling
Palpable femoral pulses bilateral.

Neurological and psychiatric:


Conscious, and alert.. DTR +2, normal tone, Power at least 3/5.
No clonus, no babenski, Right convergent squint (since birth).

Assessment

This 6 months old female infant with history of right ear swilling since 2.5 month of age, with similar
one at trunk appeared one month ago. On examination, it's peri-auricular about 3.5 X 3.5 cm, and on
the back 3 x 3 cm referred for further evaluation and management.
CASE Name: ‫ميار مامون داوود‬ Address: ‫طولكرم‬
Sex: Female Informant: Mother

11
DOB: 2 Feb 2012 Reliability: Good
Age: 1 3/12 year old Hx taken by: Almir Qatmosh

Patient profile:
Mayar Dawood a 1 3/12 year old female patient was admitted to our hospital on 5 may 2013,
with Chief complaint of Dysmorphic features suggesting Down syndrome, and referred as a
case of congenital heart disease.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:

The above mentioned patient is a product of NSVD, full term; birth wt. of 2200gram, she was
cyanosed after birth, but didn’t need O2, or admission, noticed to be Dysmorphic since birth
and was reassured by many doctors.

At age of 7 month during routine checkup she was noticed to have heart murmur, so Echo
was done, and showed small apical VSD with mild pulmonary aortic stenosis.

At age of 12 months, her mother noticed that she is stiff, especially at neck and shoulders.
And that her baby is severely crying. So she was seen by Dr. Kamal Ghanaiem, who referred
her because he noticed that she has Dysmorphic features, a hypotonia with congenital heart
disease.

No history of Shortness of breath, fever, respiratory distress, decreased activity, or poor


feeding. No family history of similar condition.

Past medical history:


Free medical and surgical history. She was never hospitalized.
No current medications.
No known drug or food allergy.

Immunizations and vaccines:


Up her age. Never missed a vaccine. With no reported side effects or complication and according to
Palestinian ministry of health schedule.

Birth history:
Uneventful ante natal history.
Born at Al-hilal Hospital at Ramallah, by NSVD, Full term with birth weight of 2200 gram.
she was cyanosed after birth, but didn’t need O2, or admission.
Development:

Gross motor: Sit without support, stand and walk with support.
Fine motor: Can transfer object, mature pincer grasp.
Speech: Say BABA, MAMA.
Social: Interactive.

Feeding history:

Breastfeeding Q 5 hours and table food 3 meals per day.

Family history:

Parents are not relatives.


No family history of similar condition, no family history of congental heart diseases, no family history
of Down’s syndrome.

Social history:

Father is 28 year old, ‫حالق‬, finished 11th grade, healthy, smoker.


Mother is 22 year old, house wife, finished 10th grade, healthy.
One brother, he is healthy.
The family live in their own house, with adequate rooms and goof ventilation, good socioeconomic
status, they are insured.
Physical Examination

Temp 37 C Wt. 9.2 kg 0 to -2 SD BP. 107/66, normal for age


H.R 105 / min Ht. 79 cm 0 to -2 SD O2 Sat 98 %
R.R 34 / min HC 45 cm just below CR time < 2 sec.
the mean

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress.

Skin, Hair and Nails:


Normal skin, no lesions, no scars, normal hair, no clubbing, leuconychia or koilonychia.

Head and Neck:


Anterior fontanel is open 1x1 cm and flat, posterior fontanel is closed. Pupils are symmetrical,
reactive to light, normal red reflux bilateral.
Dysmorphic features: depressed nasal bridge, epicanthial fold bilateral, flat occiput, synophrus. Wide
space nipples. E.N.T exam free.

Lymph nodes:
No lymph nodes enlargement.
Lungs and Thorax
Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use
of accessory muscles. Normal Respiratory rate (34/min). No chest deformity. Symmetrical chest
movement with no chest retraction.
Auscultation: good air entry bilateral, normal vesicular breathing sound. No other added sounds.

Heart:
Inspection: No chest deformity, no visible pulsation and no scars.
Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, pansystolic murmur.
Palpable femoral pulses bilateral. No radio radial or radio femoral delay.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, centrally located inverted
umbilicus, no scars, and no dilated vein
Palpation: Soft lax Abdomen, no hepatosplenomegaly. No ascites, hernial orifices are intact. Normal
female genitalia. Percussion: tympanic all over.
Auscultation: audible bowel sound.
Back and spine:
No deformity.

Extremities:
Left unilateral simian crease. Short fifth digit, sandal sign.
No joint swelling, free joint movements.
Palpable femoral pulses bilateral
Neurological and psychiatric:

Conscious and alert. Not irritable, pupils are equaled reactive.


Mild peripheral hypotonia.
Normal muscle tone and power. +2 DTR. No clouns.
No tremor, no nystagmus.

Assessment

Mayar, 1 3/12 year old female patient, with Dysmorphic features suggestive of Down’s syndrome,
and with mild Apical VSD and Mild PA stneosis (on Echo). On examination, pansystolic murmur, and
peripheral hypotonia.
CASE Name: ‫عبد الرحمن سمور‬ Address: ‫ غزة‬- ‫جباليا‬
Sex: Male Informant: Grandmother

12
DOB: 14 Jan 2013 Reliability: Good
Age: 3 month old Hx taken by: Almir Qatmosh

Patient profile:
Abd El-Rahman Samoor a 3 months old male infant was admitted to our hospital on 9 April 2013,
with Chief complaint of Referred from ‫ مستشفى الرنتيسي‬as a case of large VSD and pulmonary
hypertension.
History was taken by Almir Qatmosh, from the grandmother with good reliability.

History of present illness:

This 3 month old male infant, a product of C/S, birth weight 2.700 Kg, was in his usual state of health
till 10 days prior to admission, when his mother noticed that he has fever, (39 C) rectally, associated
with cough, and harsh breathing, he was also irritable and had poor feeding. So he was admitted to
‫مستشفى الرنتيسي‬, where he was managed as chest infection, and given IV anti-biotics.

Chest X-ray showed cardiomegaly for that Echo was done and showed large VSD 1 cm.
Abdominal U/S showed bilateral hydronephrosis.

So he was referred to Al-Makassed hospital for further evaluation and management.


No history of shortness of breath, edema, apnea, rash, vomiting or diarrhea.
Strong family history of congenital heart disease.
one brother and one sister were did due to congenital heart disease, 20 day female infant, and 7 day
male infant.

Past medical history:

Medical and surgical history and hospitalized were mentioned.


Current medications: Not on any medications.
No known drug or food allergy.

Immunizations and vaccines:

Up his age. Never missed a vaccine. With no reported side effects or complication and according to
Palestinian ministry of health schedule.
Birth history:
Ante natal history, abnormal AFP.
Born at ‫ الرنتبسي‬.‫ م‬by CS with birth weight of 2722 gram. 38 weeks gestation.
Jaundice at birth, serum billiruben 12.3, discharged after 49 hours, level of phototherapy 15.
Development:

Social smile.

Feeding history:

Exclusive breastfeeding Q 3 hours.


On admission switched to Semilak 90cc Q 3 hours. Because his grandmother came instead of his
mother.
Family history:

Parents are first cousins once removed, strong family history of congenital heart diseases, 2 children
died from congenital heart disease, 20 day female infant, and 7 day male infant.

Social history:

Father 25 year old, taxi driver, finished 11th grad, smokes argela, he is healthy.
Mother 25 year old, studied Islamic religion, house wife, she is healthy.
One sister 4 year old, healthy.
They live in their own house, 2 rooms, in good condition, with moderate socio-economic status..
Physical Examination

Temp 36.5 C Wt. 4.2 kg mean BP. 80/50, normal for age
H.R 180 / min Ht. 55 cm mean O2 Sat 989 %
R.R 41 / min HC 38 cm mean CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress.

Skin, Hair and Nails:


Normal skin, no lesions, no scars, normal hair, no clubbing, leuconychia or koilonychia.

Head and Neck:


Congested throat, runny nose. Waxy ears.
No dimorphic features. Normal shape of the head, 2 x 2 cm open anterior fontanel, not plugged. No
jaundice and normal red reflex.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use of
accessory muscles. Normal Respiratory rate (41/min).No chest deformity. Symmetrical chest
movement with no chest retraction. No scars, no intercostals, subcostal, or suprasternal retraction.
Percussion: resonance all over the lungs.
Auscultation: good air entry bilateral, normal vesicular and bilateral wheezes.

Heart:
Inspection: No chest deformity, no visible pulsation and no scars.
Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 loud S2, Pansystolic murmur.
Palpable femoral pulses bilateral.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, small umbilical hernia, no
scars, and no dilated vein.
Palpation: Soft lax Abdomen, liver and spleen are not palpable. No enlargement of the kidney. No
ascites, hernial orifices are intact. Normal male genetalia both testicles are descended.
Percussion: tympanic all over.
Auscultation: audible bowel sound..

Back and spine:


No deformity.

Extremities:
No deformity, Normal arms, palmer creases, no joint swelling.
Palpable femoral pulses bilateral
Neurological and psychiatric:

Conscious and alert. Red reflex is present bilaterally. Normal muscle tone and power. +2 DTR. Good
moro and good sucking.
.

Assessment

3 month old male infant, strong family history of congenital heart disease, presented with fever of 10
days duration associated with cough. On physical exam, tachycardia, pansystolic murmur and
wheezes. Chest X-ray shows cardiomegaly, Echo shows VSD 1cm. Abdominal U/S shows bilateral
hydronephrosis.
CASE Name: ‫زين رجائي علي‬ Address: ‫غزة‬
Sex: Male Informant: Mother

13
DOB: 24 Dec 2010 Reliability: Good
Age: 2 1/12 year old Hx taken by: Almir Qatmosh

Patient profile:

Zein Raja'ie Ali, a 2 & 1/12 years old male patient from Gaza, was admitted on the 11 May 2013,
referred from Al-Rantese Hospital, with a chief compliant of shaky movement and development
regression for one year duration for muscle biopsy.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:


Zein was in his usual state of health till the age of 10 months, when he had head trauma on the
forehead, from about 1 meter height. There was no history of loss of consciousness, no vomiting, and
no swelling of the head, so the parents didn't seek medical advice. At the age of 1 year, he started
suddenly to have shaky movements of his hand. It was persisted all the day. It was increased with
emotional stress (angry) and relieved by sleeping. It didn't stop by holding him. Then, after 5 months
if this, he started to have these shaky movements of all his body. There was no history of fever, loss
of consciousness, up rolling of the eyes, frothy secretion from the mouth, or incontinence.

At the age of 1&6/12 years, he unable to walk or sit without support. By the age of 1&7/12 years, he
couldn't talk. Before this, his development was up to age: he had social smile at age of 4 months,
sitting without support at age of 7 months, and holding objects at age of 10 months.

There was no history of previous seizures.


There is no family history of seizure, epilepsy, or neurological diseases.

EEG showed frank epileptic activity at the RT paraito-occipital area .MRI showed cystic lesion at the
top of the frontal horn, not communicating and not involving the basal ganglion (at Gaza Hospital)

So he admitted to our hospital for muscle biopsy.

Past medical history:

No history of major illnesses, recurrent infection, hospitalization, operation, accident/injury or


current medication. NKDA.

Immunizations and vaccines:


Up to his age. Never missed a vaccine. With no reported side effects or complication and according
to Palestinian ministry of health schedule.
Birth history:

This child was born on 24/12/2010 at Awdih Hospital, is a product of CS. GA: FT. Birth Wt.: 2900gm.
Maternal Blood Group: B+. Baby Blood Group: unknown
Uneventful Antenatal and neonatal history.

Development:
Gross motor: can't walk, or sit without support.

Fine motor: occasionally holding objects.

Language: talk without any comprehensible talking. .

Social /Cognitive: can recognize his family.

Feeding history:

He eats table food, with no reported allergy.

Family history:

The father is 34 years old; the mother is 29 years old. They are not relatives. No family history of
similar cases.

Social history:

Father is a teacher, and the mother is a housewife. They live with their owned good-ventilated house
(4 rooms) with a good socioeconomic state. The father is smoker..
Physical Examination

Temp 37.5 C Wt. 10.3 kg 0_-2 SD BP. 106/62, normal for age
H.R 120 / min Ht. 91 cm 0_ 1 SD O2 Sat 100 %
R.R 36 / min HC 47 cm 0_-1 SD CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress.

Skin, Hair and Nails:

No skin lesions. No skin rash, no purpura, no palmer erythema. No dryness of skin. Normal hair, no
hair loss or brittle hair. Nails: no clubbing, no leuconychia, no koilonychia..
Head and Neck:

Head size and shape are normal, anterior fontanel is open 2.5x2.5 cm and flat, posterior fontanel is
closed. Pupils are symmetrical, reactive to light, normal red reflux bilateral.
Dysmorphic features: depressed nasal bridge and prominent forehead.
E.N.T exam free.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use
of accessory muscles. Normal Respiratory rate (36/min). No chest deformity. Symmetrical chest
movement with no chest retraction.
Auscultation: good air entry bilateral, normal vesicular breathing sound, . No other added sounds.
Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur.
Palpable femoral pulses bilateral. No radio radial or radio femoral delay.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, centrally located inverted
umbilicus, no scars, and no dilated vein
Palpation: Soft lax Abdomen, no hepatosplenomegaly. No ascites, hernial orifices are intact. Normal
male genitalia.
Percussion: tympanic all over.
Auscultation:
Back audible bowel sound.
and spine:
No deformity.

Extremities:
No joint swelling, free joint movements.
Palpable femoral pulses bilateral.

Neurological and psychiatric:


Conscious, oriented, and alert. The gait couldn't be appreciated, because the child can't walk. DTR +2,
normal tone, Power 5/5. Cranial nerves all are intact. Abnormal shaky movements, increased with
crying. No tremor, no nystagmus.

Assessment

Zein Ali, a 2&1/12 years old male is a case of regression of mile stones and abnormal shaky
movements (seizure) with unremarkable physical exam, MRI showed cystic lesion at the top of the
frontal horn, not communicating and not involving the basal ganglion, EEG showed frank epileptic
activity at the RT paraito-occipital area. Admitted for muscle biopsy , R/O mitocenderial diseases .
CASE Name: ‫رهف نادر خليل‬ Address: ‫الدوحة – بيت لحم‬
Sex: Female Informant: Mother

14
DOB: 20 Sept 2012 Reliability: Good
Age: 7 month old Hx taken by: Almir Qatmosh

Patient profile:

Rahaf Khalil a 7 month old female infant was admitted to our hospital on 28 April 2013, with Chief
complaint of abnormal movements and development delay.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:

The above mentioned patient is a product of CS, full term, birth wt. of 3080 gram, with uneventful
birth and prenatal history was in her usual state of health till 3 months ago when her mother noticed
sudden rapid repetitive abnormal movements during sleeping and breast feeding in the upper and
lower limbs, these movements last only few seconds, but many times per days and increase when
she hear loud voice. No mouth secretions, eyes not rolled up, no tongue biting, no loss of
consciousness. So mother sought medical advice for these abnormal movements, and she was
assured that it will disappear with age.

2 months ago the mother also noticed that her baby has developmental delay compared to other
babies of same age, she noticed that her baby has no eye to eye contact, and she cannot follow
objects. So the mother sought ophthalmologist who did ophthalmic exam, and showed poor eye
fixation and delayed visual maturation, and he referred the mother to Caritas Baby Hospital for
neurological exam but the MRI is not available so referred to our hospital for brain MRI and EEG.

There is history of hypotonia, patient can’t sit without support, can’t raise head in prone position,
can’t roo over, no finger feed.
she can’t turn to voice, no fear from strangers.
She smile and coos when she hear her mother and father voice.
No family history of developmental delay, no history of trauma, no history of asphyxia, no history of
fever or any illness, no history of hypoglycemia, no history of maternal illness during pregnancy.

Past medical history:


Free medical and surgical history. She was never hospitalized.
Current medications: Adol (2 x 1)
No known drug or food allergy.
Immunizations and vaccines:

up her age. Never missed a vaccine. With no reported side effects or complication and according to
Palestinian ministry of health schedule.
Birth history:

Uneventful ante natal history.


Born at Bait Jala Hospital, with birth weight of 3282 gram.
40 weeks gestation, Uneventful neonatal history.
Development:
Gross motor: She cannot raise head up to 45 dgree in prone position.
Fine motor: No palmer grasp.
Speech: Can’t turn to sounds out of sight.
Social: Cannot smile responsively.
Feeding history:

Breastfeeding. No other formulas or foods.

Family history:

Parents are not relatives.


No family history of developmental delay, neurological diseases or psychiatric problems.

Social history:
Father is 33 year old, building worker, finished 8th grad, healthy, not smoker.
Mother is 30 year old, house wife, finished 8th grade, healthy.
One brother and one sister, both are healthy.
The family live in their own house, with adequate rooms and goof ventilation, good socioeconomic
status, they are insured.
Physical Examination

Temp 36.5 C Wt. 7.4 kg mean BP. 107/66, normal for


age
H.R 140 / min Ht. 66 cm mean O2 Sat 98 %
R.R 35 / min HC 42 cm mean CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress.

Skin, Hair and Nails:

Normal skin, no lesions, no scars, normal hair, no clubbing, leuconychia or koilonychia.

Head and Neck:


Head size and shape are normal, anterior fontanel is open 1x1 cm and flat, posterior fontanel is
closed. Pupils are symmetrical, reactive to light, normal red reflux bilateral.
Dysmorphic features: epicanthial fold bilateral.
E.N.T exam free.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use
of accessory muscles. Normal Respiratory rate (34/min). No chest deformity. Symmetrical chest
movement with no chest retraction.
Auscultation: good air entry bilateral, normal vesicular breathing sound, . No other added sounds.
Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur.
Palpable femoral pulses bilateral. No radio radial or radio femoral delay.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, centrally located inverted
umbilicus, no scars, and no dilated vein
Palpation: Soft lax Abdomen, no hepatosplenomegaly. No ascites, hernial orifices are intact. Normal
female genitalia.
Auscultation:
Back and spine:audible bowel sound.

No deformity.

Extremities:
Left unilateral simian crease.
No joint swelling, free joint movements.
Palpable femoral pulses bilateral
Neurological and psychiatric:

Conscious and alert. Not irritable, no eye to eye contact, pupils are equaled reactive.
Complete head lag, no head raise on prone position.
Normal muscle tone and power. +2 DTR. No clouns.
No tremor, no nystagmus.

Assessment

Rahaf, a 7 month old infant, presented with abnormal movements and developmental delay of 3
month duration. On examination, she has axial hypotonia, some Dysmorphic features, no eye to eye
contact. Admitted for Brain MRI and EEG.
CASE Name: ‫محمد بسام محمد‬ Address: ‫ نابلس‬- ‫عصيرة القبلية‬
Sex: Male Informant: Mother

15
DOB: 27 July 2012 Reliability: Good
Age: 8 month old Hx taken by: Almir Qatmosh

Patient profile:

Mohammad Bassam a 8 month old male infant was admitted to our hospital on 22 April 2013, with
Chief complaint of macrocephely and developmental delay.
History was taken by Almir Qatmosh, 5th year medical student, from the mother with good reliability.

History of present illness:

This 8 months old male infant, a product of induced VD, weight at birth 3,600 Kg was referred by Dr.
Imad Dweikat for Neuro-metabolic workup.

This baby was doing well till age of 4 month when his mother noticed that her baby is not active
enough, and his head is large, So he was seen by doctor Abdullah Othman, and fowled for his Head
circumference, and his developing.

His mother noticed that her baby don’t grow up like others, especially in motor function; he can’t sit
without support, he cannot roll over, and he even can’t raise head at prone position.
He can transfer objects, can smile, laugh, coos and bubble.
She also noticed that her baby is not active enough, he did not move his limbs like other babies, he
also can’t feed for more than 12 minutes.

Investigations were done, thyroid function – Normal, and ophthalmic test – Normal, Brain CT scan –
bilateral basal ganglia lesions. So referred to Dr. Imad Dweikat, who asked for urine organic acids,
Serum amino acid, Brain MRI and CSF lactic acid.

History of diarrhea before 2 weeks for 3 days duration, history of constipation before one month for
2 weeks duration.
History of chest infection one week ago, he was on anti-biotic.
No family history of same condition.

Past medical history:


Mohammad is known to have esophageal spasm, free surgical history. he was never hospitalized.
Current medications: nothing.
No known drug or food allergy.

Immunizations and vaccines:


Up to age. Never missed a vaccine. With no reported side effects or complication and according to
Palestinian ministry of health schedule.
Birth history:

Mother hypertension at 21 week gestation age, she was seen by gynecologist and prescribed anti-
hypertensive drug, but mother didn't tack it.
Born at , ‫ مستشفى نابلس التخصصي‬by Induced vaginal delivery with birth weight of 3282 gram.
40 weeks gestation, apgar score 9/10. Uneventful neonatal history.

Development:

Gross motor: He cannot raise head up to 45 degree in prone position, can’t sit without support
and can’t . roll over
Fine motor: Can transfer objects.
Speech: Coos and babbles.
Social: Can smile responsively and laugh.

Feeding history:
On regular diet, started at age of 7 months.
Breast feeding 2 times daily, and bottle feeding 210 cc once daily.
Family history:
Parents are not relatives.
No family history of the same condition, or any other childhood diseases or syndromes.

Social history:
His father 30 years old work ‫ موسرجي‬at Israel, he is smoker.
His mother 25 years old study at Al-quds Open University, 2nd year, his grandfather tack care him
when his mother is at university, 2 days every week.
Has one brother and one sister, they are healthy. The family live in 2nd floor with husbands' family, 2
rooms with good status and ventilation. house.
There socio-economic status is good.
Physical Examination

Temp 38.5 C Wt. 6.86 kg -2 SD BP. 90/50, normal for age


H.R 120 / min Ht. 69 cm -2 SD O2 Sat 97 %
R.R 40 / min HC 46.5 cm 1-2 SD CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress.

Skin, Hair and Nails:

No skin lesions. No skin rash, no purpura, no palmer erythema. No dryness of skin. Normal hair, no
hair loss or brittle hair. Nails: no clubbing, no leuconychia, no koilonychia..
Head and Neck:

Head size and shape are normal, anterior fontanel is open 2.5x2.5 cm and flat, posterior fontanel is
closed. Pupils are symmetrical, reactive to light, normal red reflux bilateral.
Dysmorphic features: depressed nasal bridge and prominent forehead.
E.N.T exam free.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use
of accessory muscles. Normal Respiratory rate (40/min). No chest deformity. Symmetrical chest
movement with no chest retraction.
Auscultation: good air entry bilateral, normal vesicular breathing sound, . No other added sounds.
Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur.
Palpable femoral pulses bilateral. No radio radial or radio femoral delay.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, centrally located inverted
umbilicus, no scars, and no dilated vein
Palpation: Soft lax Abdomen, no hepatosplenomegaly. No ascites, hernial orifices are intact. Normal
male genitalia.
Auscultation:
Back and spine:audible bowel sound.

No deformity.

Extremities:
No joint swelling, free joint movements.
Palpable femoral pulses bilateral.

Neurological and psychiatric:


Conscious and alert. Not irritable, eye to eye contact, pupils are equaled reactive.
Complete head lag, no head raise on prone position.
Normal muscle tone and power. +2 DTR. No clouns.
No tremor, no nystagmus.

Assessment

Mohammad bassam, 8 month old male infant, presented with macrocephaly and gross motor
developmental delay of 4 month duration. On examination, he has axial hypotonia and some
Dysmorphic features.
CASE Name: ‫غريب محمد شمسة‬ Address: ‫بيتا – نابلس‬
Sex: Male Informant: Mother

16
DOB: 7 July 2009 Reliability: Good
Age: 3 9/12 months old Hx taken by: Almir Qatmosh

Patient profile:

Gharib Shamssa is 3 9/12 year old male child was admitted to our hospital on 27 April 2013, with
Chief complaint of Autistic behavior. Developmental and speech delay.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:

This 3 9/12 year old male child a II part of twins, by NVD at 38 weeks gestational age, birth weigh of
3000 grams, at delivery the first part was delivered easily, but there was delayed and difficulty in
delivery of second part (our patient), and admitted to NICU for 2 days for unknown cause. Discharged
in good condition, breastfeeding and sucking good.

At age of 6 months, his parents noticed that their baby is hypoactive, sough by pediatrician, he was
hypotonic, and delayed in developing mile stones, in comparing to his sister (second part of twin).
He sit at age of 1 year, walk at age of 2 10/12 year, history of saying BA and MA at age of 1 year, but
now lost.

At age of 3 year started to be socially inactive, not responding and poor eye to eye contact.
History of repetitive movements and sleep disturbances, no history of abnormal movements

No history of aggressive behavior, followed by Dr. Imad Dwikat, kept on vitamins (Vit E, Vit B 12 and
Vit B50 complex) treatment.
Brain MRI was done and Normal, hearing test was done and normal.
He is referred for neuro metabolic work up and genetic testing for fragile X syndrome.

Past medical history:

Past medical & surgical histories are free, never hospitalized before.
Current Medications: non
Allergies: NKDA

Immunizations and vaccines:

Up to his age, following Palestinian MOH program, with no reported side effect. No additional
vaccine. .
Birth history:
II part of twins, by NVD at 38 weeks gestational age, birth weigh of 3000 grams, at delivery the first
part was delivered easily, but there was delayed and difficulty in delivery of second part (our
patient), and admitted to NICU for 2 days for unknown cause. Discharged in good condition,
breastfeeding and sucking good.
Development:
Delayed in developing mile stones, in comparing to his sister (second part of twin).
He sit at age of 1 year, walk at age of 2 10/12 year, history of saying BA and MA at age of 1 year, but
now lost.
At age of 3 year started to be socially inactive, not responding and poor eye to eye contact.

Feeding history:

selective food type, (No meat, no fruits).

Family history:

Parents are first cousin. No family history of the same condition, or any other childhood diseases or
syndromes.

Social history:

Father 32 year old, ‫موظف حكومي‬. Healthy, not smoker. Mother 27 year old, house wife. Healthy.
3 sisters, all are healthy, They live in their own house with good condition and ventilation, good
socio-economic status, and the are insured.
Physical Examination

Temp 36.5 C Wt. 15 kg -1 SD BP. 92/57, normal for age


H.R 122 / min Ht. 97 cm -2 to 0 SD O2 Sat 98 %
R.R 36 / min HC 47 cm -2 SD CR time < 2 sec.

General Appearance:
Well, active not in respiratory distress ,pallor, slightly jaundiced, not cyanosed.

Skin, Hair and Nails:


No skin lesions. No skin rash, no purpura, no palmer erythema. No dryness of skin. Normal hair, no
hair loss or brittle hair. Nails: no clubbing, no leuconychia, no koilonychia.

Head and Neck:

Elongated face, periauricula skin tags.


Pupils are symmetrical, reactive to light and normal red reflex.
Lymph nodes:

No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use of
accessory muscles. Normal Respiratory rate (36/min).No chest deformity. Symmetrical chest
movement with no chest retraction. No scars, no intercostals, subcostal, or suprasternal retraction.
Percussion: resonance all over the lungs.
Auscultation: good air entry bilateral, normal vesicular and no added sounds.

.
Heart:
Inspection: No chest deformity, no visible pulsation and no scars.
Palpation: Apex beat on the forth ICS, midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur. No basal crackles.
Palpable femoral pulses bilateral.

Abdomen and Genitalia:

Inspection: Symmetrical, scaphoid abdomen. Abdomen moves with respiration, centrally located
inverted umbilicus, no scars, no visible peristalsis, no striae, no visible masses, and no dilated vein.
Intact hernial orifices.
Palpation: Soft lax Abdomen, no tenderness, no palpable masses, the liver is palpable 4 cm below
costal margins. spleen were not palpable. The kidneys were not palotable. No ascites, hernial orifices
are intact. Normal male genetalia.
Percussion: tympanic all over.

Auscultation: audible bowel sound.

Back and spine:


Swilling about 3X3 cm inferior to left scapula, soft bluish discoloration not hot nor red, not tender.
No deformity, no scars. No sacral edema.

Extremities:

No deformities. Normal arms, palmer creases, no joint swelling


Palpable femoral pulses bilateral.

Neurological and psychiatric:


Conscious, and alert.. DTR +3, normal tone, Power at least 3/5.
No clonus, no babenski.
Normal gait, poor eye to eye contact.

Assessment

This 3 9/12 year old male child, presented with developmental delay, speech loss, and inactive
socially, for neuro metabolic work up and genetic testing for fragile X syndrome.
CASE Name: ‫مرح رفيد الجليس‬ Address: ‫غزة‬
Sex: Female Informant: Mother

17
DOB: 10 Oct 2008 Reliability: Good
Age: 4.5 year old Hx taken by: Almir Qatmosh

Patient profile:

Marah Rafied Al-Jaleis, a 4 6/12 years old female patient from Ghazza, was admitted on the 7 may
2013 referred from Al-Rantese Hospital with a chief compliant of obesity for 6 months duration for
endocrine workup.
History taken by Almir Qatmosh, from the patient mother with good reliability.

History of present illness:


Marah, who is a known case of lactose intolerance (diagnosed at age of 3 months), and
Thalassaemia carrier(diagnosed at age of 1 year), was in her usual state of health till 6 months ago,
when her mother noticed that she was obese over a short time 1 week (no documented weight),
without an increasing in her appetite. It was mainly in the trunk and face (moon like face). It was
associated with red cheeks, hirsutism over the legs, and low exercise tolerance. There was a history
of recurrent bruising, with delayed healing. There was no history of behavioral or mood disturbances.
History of recurrent UTI treated with zenat during the last 3 months, U/S showed left hydronephrois
with reflux. No history of operation, accident/injury or current medication

There was no history of exogenous steroids.


There was no history of cold intolerance, or constipation.
There was no history of headache, visual disturbances or any abnormal movement.
There was no history of polyuria, or polydipsia.
There was no history of dysmorphic features.

There was no family history of obesity (childhood and adults).


There is a positive family history of lactose intolerance (her younger brother), asthma (1sister and 1
brother), and Thalassaemia trait (1 sister and 1brother).

Past medical history:


Marah is known to have lactose intolerance and she is and Thalassaemia carrier, free surgical history.
Hospitalized about 25 times due to the diseases mentioned above.
Current medications: nothing.
Allergies: Lactose intolerance with No known drug or other food allergy.

Immunizations and vaccines:


Up to age, following Palestinian MOH program. There is side effect at the age of 4 months from DTP
(high grade fever , admitted to the hospital because of it) , so she was given a special vaccine instead
of DTP( no report).
Birth history:

Antenatal History: The mother has history of recurrent UTI, treated by antibiotic, in the 1st, 2nd, and
3rd trimester of pregnancy.
This baby was born on 20/8/2008 at Al-Shifa' Hospital, is a product of NVD induced by vacuum. GA:
FT. Birth Wt.: 3700g. Maternal Blood Group: B+, Baby Blood Group: B+.
Neonatal History: Admitted to the NICU for 28 days because of fever (sepsis), need multiple bloods
exchange, she discharged, but readmitted after 1 week for the same reason, and discharged at the
age of 3 months as a case of Lactose intolerance.

Development:
Gross motor: walks steadily, and run
Fine motor: can draw square.
Speech: can speak, and sing.
Social: playing with other children, and socially active.

Feeding history:
She eats table food with restrictions on milk and its products. No chocking, with good food intake. .

Family history:
Parents are not relatives.
The father is 31 years old; the mother is 30 years old. They are first cousins. Family history of
Thalassaemia trait, DDH, spina bifida. She has 4 sisters; all are healthy except one is asthmatic and
Thalassaemia carrier. And she has 3 brothers, one with asthma, other one with lactose intolerance
and Thalassaemia, and the last is healthy.

Social history:

Father is a ‫موظف سلطة‬, Mother is a housewife. They live with their owned good-ventilated house (3
rooms) with a fair socioeconomic state. Insurance. The father is smoker.
Physical Examination

Temp 36.5 C Wt. 21 kg 0 to +2 SD BP. 110/67, normal for age


H.R 92 / min Ht. 111 cm 0 to +2 SD O2 Sat 100 %
R.R 24 / min HC 51 cm 1 SD CR time < 2 sec.

General Appearance:
The patient was alert, conscious, not pale, and not cyanosed and not jaundiced. Not in respiratory
distress. She has cushinoid face, with red cheeks, and trunkal obesity.

Skin,
. Hair and Nails:

The skin looked normal. No dryness of the skin. No striae, no skin lesions. No skin rash, no purpura,
no palmer erythema. Normal hair, no hair loss or brittle hair. Nails: normal nails in size and shape.

Head and Neck:


Normal shape of the head and no dysmorphic features. no jaundice and normal red reflex and
reactive pupils bilaterally. There was redness of the left sclera with no discharge. Normal shape,
position, and size of ears. Patent nasal cavity except for runny nose. Normal mouth, lip palate,
tongue and chin. Normal neck and intact clavicles.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use of
accessory muscles. Normal Respiratory rate (24/min).No chest deformity. Symmetrical chest
movement with no chest retraction. No scars, no intercostals, subcostal, or suprasternal retraction.

Palpation: No tenderness, with normal tactile vocal fremitus.

Percussion: resonance all over the lungs.

Auscultation: good air entry bilateral, normal vesicular and no added sounds except for transmitted
sound.
Heart:

Inspection: No chest deformity, no visible pulsation and no scars.

Palpation: Apex beat on the forth ICS, midclavicular line, with no thrill or heave.

Auscultation: Regular heart rhythm, normal S1 and S2, no murmur. No basal crackles.
Palpable femoral pulses bilateral.
Abdomen and Genitalia:
Inspection: Symmetrical, protuberant abdomen, and full flanks. Abdomen moves with respiration,
centrally located inverted umbilicus, no scars, no visible peristalsis, no striae, no visible masses, and
no dilated vein. Intact hernial orifices.

Palpation: Soft lax Abdomen, no tenderness, no palpable masses, no organomegaly, the liver and
spleen were not palpable. The kidneys were not palotable. No ascites, hernial orifices are intact.
Normal female genetalia (no pubic hair)

Percussion: tympanic all over.


Auscultation: audible bowel sound.
Back and spine:
No deformity, no scars, or pigmentation. No sacral edema.

Extremities:
No joint swelling, free joint movements.
There was increased hair on the legs.
Palpable femoral pulses bilateral.
Neurological and psychiatric:

Conscious, oriented, and alert. She has normal gait. DTR +2, normal tone, Power 5/5. Cranial nerves
all are intact.
No tremor, no nystagmus.

Assessment

Marah Rafied Al-Jaleis, a 4&6/12 years old female who is a known case of Lactose intolerance and
Thalassaemia trait, was admitted with a chief complain of trunkal obesity, associated with moon like
face, hirsutism, low exercise tolerance. Physical examination showed the same with stable vital signs,
and unremarkable for other systems. She admitted for endocrine workup and diagnosis.
CASE Name: ‫ياسر يعقوب قراسمة‬ Address: ‫راس الجورة – الخليل‬
Sex: Male Informant: Mother

18
DOB: 21 Jan 2013 Reliability: Good
Age: 4 month old Hx taken by: Almir Qatmosh

Patient profile:

Yaser Yaqub Quasma, a 4 months old male patient from Hebron, Ras el jora, was admitted on the
14th of May 2013 referred from OCP Dr. Abd Elsalam Abu Libda, as a case of recurrent vomiting and
electrolytes disturbances since early neonatal period.
History was taken by Almir Qatmosh, from the mother with good reliability.

History of present illness:

The above mentioned 4 months old male patient, is a product of induced VD, G.A of 38 week and
B.Wt 3033 gram at Al-hilal Hospital, they found him to have serum lights disturbances and they did
gastric levage then discharged at same day. The patient was in his usual state of health till about 2
weeks of age, when started to have recurrent vomiting which become persistent, the vomits was
normal gastric content and small amount, but 2 of it was greenish, his mother noticed that her baby
did not fed good, and is losing weight. She noticed also that his skin is dry and did not pass urine.

So he was admitted to Alia hospital, for 3 days, and was found to have dehydration with
hyponatremia and hyperkalemia, he was managed on IVF. At age of 28 day his mother tacked him to
Ciritas Baby Hospital against Alia Hospital advice, because of persistent vomiting and dehydration. On
admission his weight was 2600 gram length 54 cm and HC 35 cm. they did labs for him which
showed normal CBC, Na 116, K 8, Cl 84, Ca 10.9 Cr 1.1, BUN 34, normal liver enzymes, BG: pH 7.40,
PCO2 18, HCO3 11, BE -11. –ve blood culture, free urin and stool analysis. 17-hydroxyprogesterone >
20 ( NL 0.7-2.5), cortisol 781 (NL 171-535), and he was discharged on Hydrocortisone, 1.5 mg x 2 and
Florinet 0.2 mg x 2.

History of decreased activity and history of poor feeding during the first month. His mother gives him
now Novalac 60 cc Q one hour, the short period is to decrease the frequency of vomiting, as she was
advised by doctors at alia hospital. Breastfeeding & S26 was stopped on 2 nd month of age.

His development is good, he can sit with support, can smile and laugh, can hold object, can coos and
has good eye to eye contact.
No history of any abnormal movements, no history of fever, no history of weight loss, no history of
cough, diarrhea, abdominal distension.
There's no family history of similar condition.
Past medical history:

Hospitalizations: he was hospitalized 2 times in one at Alia Hospital and the other at Critas Baby
Hospital, as mentioned above.
Operations: Never.
Current medications: Hydrocortisone, 1.5 mg x 2 and Florinet 0.2 mg x 2
Allergies: NKDFA.

Immunizations and vaccines:

Up her age. Never missed a vaccine. With no reported side effects or complication and according to
Palestinian ministry of health schedule.

Birth history:
This baby is a product of induced NVD. GA: 38 weeks. Birth Wt.: 3033g.
Uneventful prenatal and neonatal birth history.

Development:
.

Gross motor: can sit with support.


Fine motor: can hold objects.
Hearing and speech: Coos.
Social: socially active plays, smiles spontaneously, can laugh. Good eye to eye contact.

Feeding history:

Novalac 60 cc Q one hour. Breastfeeding & S26 was stopped on 2nd month of age.

Family history:

Parents are not relatives.


No family history of the same condition, or any other childhood diseases or syndromes.
Social history:

Father work ‫أعمال حرة‬, his education is 12th grade. Mother is housewife; her education level is 12th
grade. The father is smoker. Yaser is the first family baby.
The family live in 2nd floor with husbands' family, 2 rooms with good status and ventilation. No pets
at house.
There socio-economic status is good.
Physical Examination

Temp 36.5 C Wt. 3.5 kg -1 to -2 SD BP. 88/55, normal for age


H.R 120 / min Ht. 60 cm -1 to -2 SD O2 Sat 100 %
R.R 38 / min HC 40.5 cm -1 to -2 SD CR time < 2 sec.

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress.

Skin, Hair and Nails:

No skin lesions. No hyperpigmentation. No skin rash, no purpura, no palmer erythema. No dryness


of skin, Normal skin turger. Normal hair, no hair loss or brittle hair. Nails: no clubbing, no
leuconychia,
Head no koilonychia.
and Neck:
Head size and shape are normal, anterior fontanel is open 2x2 cm and flat, posterior fontanel is
closed. Pupils are symmetrical, reactive to light, normal red reflux bilateral. Eyes and fontanel are not
sunken, no dryness of mucous membrane.
No dysmorphic features. E.N.T exam free.

Lymph nodes:
No lymph nodes enlargment,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use
of accessory muscles. Normal Respiratory rate (38/min). No chest deformity. Symmetrical chest
movement with no chest retraction.
Auscultation: good air entry bilateral, normal vesicular breathing sound, . No other added sounds.
Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 and S2, no murmur.
Palpable femoral pulses bilateral. No radio radial or radio femoral delay.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, centrally located inverted
umbilicus, no scars, and no dilated vein
Palpation: Soft lax Abdomen, no hepatosplenomegaly. No ascites, hernial orifices are intact.
Hyperpigmented scrotum, normal male genetalia with descended both tests.
Percussion: tympanic all over.

Auscultation:
Back and spine:audible bowel sound.

No deformity.

Extremities:
No joint swelling, free joint movements.
Palpable femoral pulses bilateral.

Neurological and psychiatric:


Conscious and alert. Not irritable, eye to eye contact, pupils are equaled reactive.
No head lag, no axial hypotonia.
Normal muscle tone and power. +2 DTR. No clouns.
No tremor, no nystagmus.

Assessment

Yaser Yaqoub Qwasmi, 4 months old male infant, have persistent vomiting, dehydration,
Hyponatremia, hyperkalemia, elevated 17-hydroxyprogesterone and cortisol, on exam
hyperpigmented scrotum.
CASE Name: ‫زين حسام لبد‬ Address: ‫غزة‬
Sex: Male Informant: Mother

19
DOB: 9 Aug 2008 Reliability: Good
Age: 4 8/12 year old Hx taken by: Almir Qatmosh

Patient profile:

Zain lobad 4 8/12 year old male child was admitted to our hospital on 17 April 2013, with Chief
complaint of abnormal gait for 4 years, and developmental delay.
th
History was taken by Almir Qatmosh, 5 year medical student, from the mother with good reliability.

History of present illness:


Zain lobad, a 4 year and 8 month old male child, showed normal developmental pattern until the age
of 6 month when his mother noticed that he was not developing like the rest of children of his age,
this developmental problem manifested in the form of inability to roll over, sit with support and poor
fine motor skills. Otherwise development was normal. For that she sought medical advice multiple
times, the doctors reassured her and prescribed her vitamins. However the condition did not
improved, at the age of 18 months she sought medical advice from a pediatrician, who advised her to
do physiotherapy and seek specialized care.

The child showed gradual improvement on physiotherapy and started to walk at the age of 2 years
but with an abnormal tip-toeing gait. The mother was not satisfied with this mild improvement and
sought medical advice again at the age of 3.5 years, at ‫ مستشفى كمال عدوان‬which referred her al-
Makassed hospital. where he was evaluated by the orthopedics and neurology team, he was found to
have contractures which were treated by bilateral adductor-hip and achilles tenectomy on
15/5/2012, brain MRI was done for him and showed evidence of White Matter Disease. Urine organic
acid and serum amino acids were negative, the patient was also negative for krabbe mutation and
was discharged on Biotin 10 mg P.O daily, Folinic acid 15 mg P.O daily and B50 complex.

The patient was scheduled for further follow up and evaluation, last of which was on 28/11/2012, the
mother is now waiting for a pending VLCFAresult.

Past medical history:

Medical, surgical and hospitalization history were mentioned above.


Current medications: Biotin 10 mg P.O daily.
Folinic acid 15 mg P.O daily.
B50 complex (stopped 2 months ago)
No known drug or food allergy.
Immunizations and vaccines:
Up his age. Never missed a vaccine. With no reported side effects or complication and according to
Palestinian ministry of health schedule.
Birth history:

Antenatal: mother has a history of recurrent preterm labor and required cervical cerclage. And was
given Dexamethasone at the end of week 32.
Born at Al-shifaa’ Hospital, with birth weight of 2350 gram. 34 weeks gestation.
jaundice developed after 2 days of age, this also happened to all of his siblings, not treated by
phototherapy.
Development:
Gross motor, Can't ride tricycle, unsteady gait , W shaped sitting.
Fine Motor, can draw a circle and straight line.
Social, has friends and does well in kinder garden. Toilet trained. Can feed himself.
Language & speech, good.

Feeding history:

Table food 3 times a day and snacks between meals.

Family history:

Parents are not relatives. No family history of similar condition.

Social history:

Father is 39 year old, ,‫ أمن وطني‬IT graduate, healthy and not smoker.
Mother is 33 year old, housewife, Physics graduate, healthy and not smoker. She is pregnant.
He has healthy sister 6.5 year old, and healthy brother 5 years old.
They live in their own house under good conditions and good socioeconomic status.
Insured, ‫تامين عسكري‬.
Physical Examination

Temp 36.5 C Wt. 20 kg 0 to -2 BP. 113/70, normal for


SD age
H.R 100 / min Ht. 108 cm mean O2 Sat 100 %
R.R 28 / min HC 51 cm 0 to -1 CR time < 2 sec.
SD

General Appearance:
The patient looks alert, conscious, well, active, not pale, not cyanosed, not jaundiced and not in
respiratory distress.

Skin, Hair and Nails:

Two Cafeَ aulait spots, 3 cm on the left buttock and 2 cm on the right thigh. Otherwise normal
skin, no lesions, no scars, normal hair, no clubbing, leuconychia or koilonychia.

Head and Neck:


Head size and shape are normal, Pupils are symmetrical, reactive to light, normal red reflux bilateral.
No Dysmorphic features. E.N.T exam free.

Lymph nodes:
No lymph nodes enlargement,

Lungs and Thorax

Inspection: No flaring of the nose, no cyanosis on the lips, tongue and mucous membrane. No use of
accessory muscles. Normal Respiratory rate (28/min).No chest deformity. Symmetrical chest
movement with no chest retraction. No scars, no intercostals, subcostal, or suprasternal retraction.
Percussion: resonance all over the lungs.
Auscultation: good air entry bilateral, normal vesicular and bilateral wheezes.

Heart:

Inspection: No chest deformity, no visible pulsation and no scars.


Palpation: Apex beat on the forth ICS midclavicular line, with no thrill or heave.
Auscultation: Regular heart rhythm, normal S1 loud S2, no murmurs.
Palpable femoral pulses bilateral.

Abdomen and Genitalia:


Inspection: no abdominal distension, abdomen move with respiration, small umbilical hernia, no
scars, and no dilated vein.
Palpation: Soft lax Abdomen, liver and spleen are not palpable. No enlargement of the kidney. No
ascites, hernial orifices are intact. Normal male genetalia both testicles are descended.
Percussion: tympanic all over.
Auscultation:
Back audible bowel sound.
and spine:
C shaped back.

Extremities:
limited adduction of the hip, limited flexion and extension of the left knee, limited abduction of the
shoulders mostly left side.

Neurological and psychiatric:


Unsteady gait, +ve gower sign, Spasticity in the arms and legs.
Conscious and alert. Normal muscle tone and power. +2 DTR.
No tremor, no nystagmus.

Assessment

a 4 years and 8 months mail child, has unsteady gait, and motor developmental delay, +ve gower
sign, Spasticity in the arms and legs. Limited adduction of the hip, limited flexion and extension of
the left knee, limited abduction of the shoulders mainly at left side. C-shaped spine. Brain MRI,
showed evidence of white matter disease.
Neonate Name: Ra'ed (Tali Fahemia son)
Sex: Male

Case 1 DOB:
Date of admission:

Patient profile:
1 May 2013
1 May 2013

This premature new born is a product of urgent C/S due to cord prolapse, GA 29 +2 weeks, birth
weight 1080 gram, Apgar score 4/7, admitted directly from OR.

Problem list:

1. Prematurity 29 + 2 weeks.
2. Respiratory distress.
3. Role out sepsis.

Maternal history:

Hyperthyroidism, she was taking medications (mother don't know the name) and free past surgical
history .

Mother is 37 years old. Prim-gravida.

Mother Blood Group: A Positive Baby Blood Group: A Positive Coombs test: Negative

Course: Unbooked at our hospital.

ANC Dr. Jehad Al-khateb.


DUSS NAD, by Dr. Jehad Al-khateb
GCT Normal.

LMP: 6. 10.2012 EDD: 13.7.2013 GA: 29+ Weeks.

Delivery:

C/S due to Cord prolapse and PPROM. A/S: 4/7


She was given 2 doses of Dexacord.

Resuscitation
Arrived flaccid and apneic, cyanosed. Drying, stimulation, and gentle sucking were done HR was <
100 bagging for 30 sec and the HR was also <100, intubated at 2 min HR become >100, O2 sat was
91%. Then the baby was transferred to NICU.
Reason of admission:
Prematurity 29 + 2 weeks, respiratory distress and to role out sepsis

Examination on admission:
BWT: 1080 gram (25-50 %), HC: 26 cm (25 - 30 %), Ht: 37(25 %)

General : well, pink hypotonic.

Head: normal shape, AF open and soft. Face not dysmorphic.

ENT: No clefting.

Neck : no masses.

Chest : good air entry bilateral, no added sound.

Heart : RHR and no murmurs.

Abdomen: soft lax slightly distended, Femoral pulses palpable bilateral.

Extremities and back : no deformity.

CNS : Hypotonic.

Hips: no click.

Skin: no rashes.

Umbilicus inverted.

Assessment:

Premature newborn, 29 +2 weeks, was referred to NICU due to prematurity, respiratory distress and to
role out sepsis. History of cord prolapse.

Plan:

Connect to MV (as soon as possible)


CXR, if HMD changing, give one dose of surfactant.
NPO
IVF D/W 10% , 80 cc/kg/day.
Strict Urine output.
Umbilical lines, arterial and venous.
CBC, CRP, Blood gas.
Ampicellin & Gentamicine.

Hospital course:

-General : well, active in incubator.

-Respiratory: initially the baby was connected to MV, SIUV mode FiO2 30% High rate 4 L/min,
blood gas (PH 7.25, PCO2 46, PO2 47, HCO2 20), Extubated on 2/5/2013 with good air entry
bilateral, no added sound, then connected to N/C FiO2 21%, and rate 3L/min decreased to 2L/min.
Chest X-ray was done at admission, showed HMD changing, the baby was given one dose of
surfactant, and improved. next day.
The baby is on Caffeine.

-CVS: Remained hemodynamiclly stable all the time.

-GIT: initially he keep it on NPO on IV 80 cc/kg/day and Dextro was ok, trophic feeding started
on 2/5/2013, and TPN 100 cc/kg/day. He started to feed gradually NGT. And become on full feed on
9/5/2013.
On second day of admission he developed mild abdominal distention, X-ray was done, and showed
distended bowel loops. Septic workup was done.

-Sepsis : started initially on Ampi/Genta then on 4/5/2013 shifted to IV Tazocin 50 mg q 8


hrs/Amikacin 7.5mg q 8 hrs (blood and CSF cultures were –ve) So discontinue anti-biotics on
7/5/2013.
Neonate Name: Maria Hatem Bomale girl (III)
Sex: Female

Case 2 DOB:
Date of admission:

Patient profile:
1 May 2013
1 May 2013

This premature new born is a product of urgent C/S due to cord maternal cause and triplet in labor, GA
28 +3 weeks, birth weight 1000 gram, Apgar score 6/8, admitted directly from OR.

Other parts of triplet:

Part I : Female, Birth weight 980 gram, Apgar score: 4/9

Part II : Female, Birth weight 930 gram, Apgar score: 6/8

Problem list:
1. Prematurity 28 + 3 weeks.
2. Respiratory distress.
3. Role out sepsis.
4. Very low birth weight.

Maternal history:

5 years infertility, IVF pregnancy. Free past medical and surgical histories.

Mother is 26 years old. Prim-gravida.

Mother Blood Group: O Positive Baby Blood Group: O Positive Coombs test: Negative

ANC Dr. Firas Abd El Jawad.


DUSS NAD, by Dr. Firas Abd El Jawad.
GCT Normal.

LMP: 1. 10.2012 EDD: 7.7.2013 GA: 28+ Weeks.

Delivery:

C/S due to maternal causes, and triplet in labor.


She was given 2 doses of Dexacord.
Resuscitation

Arrived flaccid and apneic, cyanosed. Drying, stimulation, and gentle sucking were done HR was <
100 bagging for 30 sec and the HR was also <100, intubated at 2 min HR become >100, O2 sat was
90%. Then the baby was transferred to NICU.

Reason of admission:
Prematurity 28 + 3 weeks, respiratory distress and to role out sepsis.

Examination on admission:
BWT: 1000 gram (25-50%), HC: 28 cm (25 - 30 %), Ht: 38(25 %)

General : well, active, pink.

Head: normal shape, AF open and soft. Face not dysmorphic.

ENT: No clefting.

Neck : no masses.

Chest : in respiratory distress, FiO2 40%, good air entry bilateral, no added sound.

Heart : RHR and no murmurs.

Abdomen: soft lax slightly distended, Femoral pulses palpable bilateral.

Extremities and back : no deformity.

CNS : Hypotonic.

Hips: no click.

Skin: no rashes.

Umbilicus inverted.

Assessment:

Premature newborn, 28 +3 weeks, part III of triplet IVF pregnancy, was referred to NICU due to
prematurity, respiratory distress and to role out sepsis.

Plan:

Connect to MV (as soon as possible)


CXR, if HMD changing, give one dose of surfactant.
NPO
IVF D/W 10% , 70 cc/kg/day.
Humidity.
Strict Urine output.
Umbilical lines, arterial and venous.
CBC, CRP, Blood gas.
Ampicellin & Gentamicine.

Hospital course:

-General : well, active in incubator.

-Respiratory: initially the baby was connected to MV, SIUV mode FiO2 40% High rate 4 L/min,
blood gas mild acidosis (PH 7.26, PCO2 49, PO2 47, HCO2 21), Extubated on 2/5/2013 with good air
entry bilateral, no added sound, then connected to N/C FiO2 21%, and rate 3L/min decreased to
2L/min.
Chest X-ray was done at admission, showed HMD changing, the baby was given one dose of
surfactant (3 ml), and improved. next day.
The baby is on Caffeine.

-CVS: Remained hemodynamiclly stable all the time.

-GIT: initially he keep it on NPO on IV 70 cc/kg/day and Dextro was ok, trophic feeding started
on 2/5/2013, and TPN 100 cc/kg/day. She started to feed gradually NGT. And become on full feed on
11/5/2013.

-Sepsis : started initially on Ampi/Genta then on 3/5/2013 shifted to IV Tazocin 50 mg q 8


hrs/Amikacin 7.5mg q 8 hrs (blood and CSF cultures were –ve) So discontinue anti-biotics on
5/5/2013.
THANK
YOU

Neurological and psychiatric:

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