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4 Long Case by DR Kalim Marwat PDF
4 Long Case by DR Kalim Marwat PDF
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LONG CASE FORMAT
PRESENTING COMPLAINT (P.C):
❖ Always ask in in the beginning (after P.C that was the child absolutely physically n mentally well
before these complaints to know abt chronicity of disease)
❖ There should be maximum of 3 presenting complaints
❖ Write in chronological order
BIRTH/FEEDING/VACCINATION/DEVELOPMENTAL/FAMILY/SOCIOECONOMIC
ALWAYS ASK PARENTS UNDERSTANDING OF DISEASE plus whether future T/M strategies
discussed like transplant
NOTE: sequence may be tailored according to case, format is made so no aspect of history is left
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GENERAL PATTERN OF HISTORY TAKING IN LONG CASE Marks 10
(CPSP WEBSITE)
Intro 1
o Name
o Age
o Sex
o Relation of attendant with pt.
o Resident of
o Admission date
o through Medical emergency
P/Complaint.... 3
o Chronologic order
o Detail of each symptom
o D/D(questions related to D/D)
o Systemic review(Head to toe)
o Impact on life
o Current Labs and interpretation
o Rx received & their interpretation
o Current status of symptoms...
o Satisfied with Rx or not…
Past history : 3
o K/c...yrs./c...D/D...Cause
o Labs.Rx interpretation
o Counseling abt disease
o Course illness, Follow up and Rx compliance
o Knowledge abt disease
o Complications of the disease
o Complications of Rx
o Associations...(autoimmune diseases)
o Surgery ,transfusion
Birth,feeding,vaccination 0.5
Development, schooling history...impact 0.5
Nutrition history with calorie 0.5
Family history...cousin marriage 0.5
Socioeconomic history... 0.5
Occupation, education, supported by any group, impact 0.5
on life, parents concerns
2
Marks obtained
Distribution of marks
presentation...5
correct finding....10
Logical interpretation...15
D/D.....10
investigation...10
management plan....15
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SROUTINE QUESTIONS ABOUT CARDINAL SYMPTOMS
PAIN:
Site, intensity, radiation, character, duration, frequency & periodicity, special time of occurrence,
aggravating & relieving factor, associated phenomenon.
FEVER:
Onset, rigors & chills, grade, diurnal variation, night sweats, pattern, associated symptoms like
cough, ear discharge, sore throat, diarrhea, flank pain, dysuria, fits etc.
WEIGHT LOSS:
• Is weight loss subjective or documented?
• How is the appetite, wt loss with loss of appetite is associated with chronic infections like TB or
malignancy, wt loss with good appetite occurs in hyperthyroidism & DM
MASS:
Duration, site, how it was noted, initial size, any recent change in size, pain, change in overlying skin,
any draining sinus, pressure symptoms like dyspnea& dysphagia.
EDEMA:
• Sudden or gradual onset?
• Localized or generalized? Extent of edema like up to ankles or knees
• How it started? Initial start as early morning periorbital puffiness denotes underlying renal disorder,
starting from feet (CCF)
• Ask associated symptoms like SOB (CCF), anorexia, vomiting, oliguria (renal failure), jaundice (CLD),
diarrhea (malabsorption).
DYSPNEA:
• Is it at rest or on exertion?
• If on exertion, mild, mod or on severe exertion? Ask SOB occurs after walking how many steps or on
climbing stairs etc.
• Is it episodic or continuous? Is dyspnea progressively worsening?
• Duration
• H/O orthopnea, PND
• Is quality of life impaired due to SOB? How many pillows used at night.
• H/O chronic cough, wheezing, allergy, wt loss, edema, cyanosis.
PALPATATIONS:
• At rest or on exertion?
• Duration of attack?
• Does it start or terminate gradually or suddenly?
• H/O chest pain, SOB, heat intolerance, wt los
COUGH:
• Duration? Frequency & severity? Diurnal variation? Is sleep disturbed due to cough?
• Dry or productive? Is sputum scanty or copious, thick or thin, color, hemoptysis, amount of sputum
• H/O wheeze (asthma), wt loss. Anorexia (TB), post tussive vomiting, whoop, change in color of face
during cough i.e. bluish discoloration of face (pertussis)
VOMITING:
Duration, frequency, amount, specific timing, color, hematemesis, relation with food, pain
abdomen, jaundice, anorexia, headache.
DIARRHEA:
duration, amount, frequency, consistency, grading of stools, bloating, flatulence, blood in stools,
mucus, foul smelling, oily, bulky, greasy, difficult to flush, perianal rash, rectal prolapse, abdominal distension,
fever, wt loss.
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JAUNDICE:
Onset, duration, anorexia, vomiting, color of urine, colour of stool, pain abdomen, pruritus, pain
abdomen, edema, bleeding diathesis, altered behavior due to encephalopathy.
HEADACHE:
Duration, onset, severity, character, continuous or intermittent, site, aura, unilateral or diffuse
headache, family history, vomiting, fits, personality changes, specific time of occurrence, early morning
headache in SOL brain, aggravating or relieving factor.
FITS:
• Age of occurrence of 1st seizure? Aura? Generalized or focal? Associated with fever?
• Sphincter incontinence? LOC? Post ictal state? Duration of fit? Frequency? Tongue bite? Frothing?
• Any episode of status epilepticus, H/O head trauma, developmental history, family h/o fits.
• Any specific time of occurrence of seizure.
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ASTHMA
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ASTHMA
P.C
• Known asthmatic
• Recurrent chest symptoms
HOPI:
• Cough… dry, nocturnal, continuous, episodic
• SOB, at rest, on exertion, orthopnea, number of pillows used at night, degree of limitation,
difficulty in talking coz of dyspnea, h/o post tussive vomiting, cyanosis, syncope
• Chest tightness, wheezing
• Night awakenings due to these symptoms
• Seasonal variation of cough plus diurnal variation
• Are symptoms triggered by URTI or viral infections
• Fever…. Absent
• Some degree of FTT
• Eye redness and watering n swelling of eyes…. Allergic conjunctivitis
• Eczema rash
• Other … hx of atopy
• Sneezing and rhinorrhea (allergic rhinitis)
PATTERN OF DISEASE:
✓ Acute & infrequent exacerbation
✓ Episodic, frequent attacks with complete resolution bw attacks
✓ Chronic with persistence of symptoms b/w attacks
R/O DD:
1) CF: ch diarrhea, marked FTT, fever, green sputum
2) PCD: ear discharge
3) GERD: stomach pain, bad taste in mouth at night while sleeping, vomiting, heart burn
LABS: CXR, PFTs, sweat chloride, CT scan, Blood tests, PPD, Sputum
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MANAGMENT:
▪ inhaler… colour, dose, # of puff used, technique, spacer used, how spacer is cleaned, from which
age inhaler is used
▪ How frequently rescue medicines are needed?
▪ Are symptoms reversible with inhaler?
▪ Change in dose and y?
▪ Prophylaxis, LUCAST at night
▪ Compliance to TM
▪ Number of hospitalizations, reason, outcome
▪ How frequently oral steroids used/year? S/E of steroids
▪ How many times in a year ER visits?
▪ Any ICU admissions, intubation for pneumothorax, ventilator needed?
▪ of episodes of status asthmaticus (severe dyspnea, difficulty lying down, drowsiness, cyanosis,
difficulty talking), TM then, length of stay at hospital, outcome
▪ Previous TM , current T/M
▪ Any recent change in symptoms… ABPA
ALLERGENS identified:
▪ Seasonal variation, perfume, cooking, pollen allergy, harvesting season, food allergy, perfume, dust
allergy, smoke, cold, exercise, stress
▪ Are there pets and plants at home?
▪ Any smoker at home? Carpets at home?
LIFESTYLE MODIFICATION:
Damp dusting, removal of carpets, nylon carpets, hypoallergen cover for pillows and mattresses
MONITORING: PEFR, how frequently, technique, record kept, how frequent OPD visits
FAMILY HISTORY of TB asthma, allergies
SCHOOLING:
▪ How many days missed at school?
▪ Does he walks to school? Is inhaler taken with him to school?
▪ Does teachers know abt disease & management?
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ASTHMA
Asthma is the chronic inflammation of the lung airways resulting in episodic airflow obstruction due to
increased hypersensitivity to provocative stimuli which is recurrent & reversible.
ETIOLOGY AND PATHOPHYSIOLOGY:
❖ ENVIRONMENTAL RISK FACTORS: allergens, infections, pollutants, microbes, stress leads to chronic
inflammation & aberrant repair of injured airways. Lung dysfunction i.e AHR airway hyper
responsiveness develops, these factors during early life adversely affects airway growth.
❖ GENETIC predisposition…> 100 genetic loci identified, loci containing proallergen, proinflammatory
genes (IL-4) gene cluster on ch 5, ADAM33 gene
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EARLY CHILDHOOD RISK FACTORS FOR PERSISTENT ASTHMA:
Parental asthma
Allergy i.e eczema, rhinitis, food allergy
Severe LRTI
Wheezing apart from colds
Males
LBW
Tobacco exposure
Possible use of paracetamol
Reduced lung function at birth
ASTHMA TRIGGERS:
Viral infections
Animal dancers/dust mites/cockroach/molds
Pollens
Tobacco
Pollution
Ozone/Sulphur dioxide/dust
Perfumes/hair spray
Cold air/dry air
Occupational pollutants
Exercise/crying/laughter/hyperventilation
Co morbids… rhinitis, sinusitis, GERD
INVESTIGATIONS:
ASTHMA generally is a clinical diagnosis, certain labs that can help in diagnosis are
1) CXR: hyperinflation, flat diaphragm
INDICATIONS OF CXR IN ASTHMA:
1st episode
Any complication like pneumothorax is suspected
If consolidation/pneumonia is suspected
When conventional therapy has failed
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2) LUNG FUNCTION ABNORMALITIES IN ASTHMA
SPIROMETRY:
1) Low FEV1, FEV1/FVC ratio<0.80
2) Bronchodilator response to inhaled beta2 agonist Improvement in FEV1>12% or > 200ml
3) Exercise challenge... worsening in FEV1>15%
4) PEFR……diurnal variation > 20%
3) PERIPHERAL EOSINOPHILIA...
MANAGEMENT:
1) PARENTAL EDUCATION
2) AVOIDANCE OF TRIGGERS
3) PHARMACOTHERAPY
4) WHEN TO REFER TO HOSPITAL
5) HOME MANAGEMENT
6) FOLLOW UP
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NATIONAL ASTHMA EDUCATION & PREVENTION PROGRAM
CLASSIFICATION
1ST EPISODE OF ASTHMA/NOT ON LONG TERM TM
persistent
Component Intermittent
mild Moderate severe
< 2 days/week
Day times symptoms < 2 days/week but not daily Daily Throughout day
Extreme
Activity limitation None Minor Some limitation limitation
Note: In 2-6 week, evaluate level of asthma control that is achieved & adjust therapy, if no clear benefit
within 4-6 week, consider adjusting therapy or think of alternate diagnosis
ALTERNATIVE Lucast
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Nelson Tables (page # 1095-1115)
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ASSESSING ASTHMA CONTROL & ADJUSTING THERAPY
Several time/day
Use of rescue medicines < 2 days/week >2 days/week
DRUG DOSAGE:
Drug Dose
Low dose ICS 200-400 micgm
Medium dose ICS 800 micgm
Hi dose ICS >1000 micgm
0-4 yrs… 4 mg HS 5-11 yrs… 5mg HS
Lucast LTRA >12 yrs … 10 mg
Theophylline 10 mg/kg/day
Salmeterol 50 mg BD
Formoterol 12mg BD
150-375 mg SC 2-4 weekly in severe Persistent
OMALIZUMAB anti IgE asthma in >12 yrs old.
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RISK FACTORS FOR ASTHMA MORBIDITY & MORTALITY
PSYCOSOCIAL AND ECONOMICAL Poverty, crowding, mother <20 yrs old, uneducated mother
Substance abuse, lack of medical facility
Poor perception of asthma symptoms
Psychopathology in parents
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STATUS ASTHMATICUS:
A sever exacerbation of asthma that does not improve with standard
therapy is termed as status asthmaticus
1) Oxygen via mask or nasal cannula to maintain sats>92%
2) SABA, salbutamol(0.1-0.3mg/kg) inhaled every 20 min for 1 hr or continuous 5-15
mg/hr / albuterol 0.15 mg/kg every 1-4 hr as needed
3) Systemic steroids pred 0.5-1 mg/kg every 6-12 hrs for 48 hrs
4) Ipratropium bromide 0.5 mg 6-8 hrly
5) Adrenaline SC/IM 0.01mg/kg
6) Terbutaline 1-10 micgm/kg
7) MgSO4... 20-75 mg/kg over 20 min IV
DISCHARGE HOME
IF sats>92% in air, PEFR >70% of best, sustained, Imp in symptoms &
bronchodilator therapy at least three Hrs apart taken at hospital, normal physical
findings... follow up after 2 weeks
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What are the types of delivery Devices?
3 main types of inhaled delivery devices according to drug dispersion method
1. pressurized metered dose inhaler(MDI)
• containing a mixture of propellant (Chlorofluorocarbon, Hydrofluroalkanes) and the
drug
• problem with MDI is coordination between actuation and inhalation
2. Dry powder inhaler (DPI)
Utilizing patient’s inspiratory efforts to disperse medications-
Accuhaler/turbohaler/rotahaler
3. Nebulizers
Using the vibration of a piezoelectric crystal to aerosolized liquid
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3) Cough variant asthma
• Cough without wheezing
• Symptoms relapse when therapy is withdrawn
Rx:
The release can be prevented by stabilizing mast cells with
• pre-exercise oral chromoglycate alone or
• with Beta agonists
D/Ds of wheezing
E) Lympholenticular
• Mediastinal mass
D/Ds of Asthma
• Bronchiectasis
• Bronchiolitis in infants
• Bronchopulmonary dysplasia
• CHD/Myocarditis
• TEF
• GER
• Vascular Ring
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What are the classical signs of chronic asthma?
✓ Clubbing
✓ Focal resp. signs
✓ Presence of nasal polyp along with sinusitis (immotile cilia syndrome)
✓ Abd. Scar (meconium ileus in neonatal period)
✓ Firm hepatomegaly with signs of CLD (CF)
✓ Association of wheezing with oral feeds-palatopharyngeal incoordination (H-shaped
TEF and GER)
What are issues to be reviewed when child not responding to antiasthamatics Rx?
1) Noncompliance
✓ Not following regularity in using inhaled corticosteroids
✓ Fear of depennce or side effects of steroids
4) Concomitant disease
✓ Sinusitis
✓ GER
✓ Cleft palate
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Nelson Tables (page #1095-1115)
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CONGENITAL ADRENAL HYPERPLASIA
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Cholesterol
Cholesterol
desmolase
3β-Hydroxysteriod
Dehydrogenase
(D)
Progesterone 17-OH Progesterone Androstenedione
21β-Hydroxylase
(B) 11-Deoxycorticosterone 11-Deoxycortisol
Testosterone
11β-Hydroxylase
(C) ZONA RETICULARIS
ANDROGENS
Corticosterone Cortisol
Aldosterone
synthetase
Aldosterone cortisone
ZONA FASCICULATA
ZONA GRANUMERULOSA GLUCOCORTICOIDS
MINERALOCORTICOIDS
Salt-wasting CAH
• 3β-Hydroxysteriod Dehydrogenase (3β-HSD)
• 21β-Hydroxylase
Hypertension with CAH
• 11β-Hydroxylase
• 17α-Hydroxylase
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Summary of CAH
17α-Hydroxylase 21β-Hydroxylase 11β-Hydroxylase 3β-Hydroxysteriod
Enzyme (A) (B) (C) Dehydrogenase (3β-
↓ ↑ HSD) ... (D)
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CAH
P/C………. recurrent vomiting, fever, failure to thrive,
HOPI…….
Ask # of vomiting per day, relation of vomiting with feed, is the child hungry after vomiting, mass
abdomen, age of onset of vomiting (pyloric stenosis) technique of feeding, burping, is vomiting more
with liquid or semisolid(GERD) wt loss, fever, irritabity, excessive crying, jaundice, FTT(IEM)
❖ Polyuria, FTT(RTA)
✓ Older child….
1. male...precocious puberty… (21-α, 11-β hydroxylase)
2. Female…clitoromegaly, pubic hair, acne, deep voice, facial hair (11-β hydroxylase, 17-α
hydroxylase)
3. Hypertension… (11-β, 17-α)
4. Lethargy, disorientation (cortisol lack)
5. Salt craving (aldosterone lack)
6. Anorexia, wt loss
7. Ambiguous genitalia
8. Skin pigmentation generalized
9. Increased pigmentation in axilla & genitalia
10. H/O jaundice, urinary problems abnormal odor…. R/O IEM
11. Recurrent sinus or pul. Infections (poor response from stress of infection)
12. Drug/infection/ autoimmune diseases hx which cause Addison’s disease
13. R/O causes of 2nday Addison’s disease (pituitary tumors, Pituitary radiation, isolated cong.
ACTH def, Head trauma)
• When, where, how… diagnosis made, length of hospital stay, education given and Rx at
hospital and for home.
• If older child with CAH ask about deterioting school performance, ataxia… ALD
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✓ F. up and monitoring… frequency, wt, ht, bone age, electrolytes at each visit and drug compliance.
COMPLICATIONS
FAMILY HISTORY… consanguinity, similar illness, sib’s death, antenatal screening, sib screening and
Genetic counselling.
SOCIAL HISTORY:
DIAGNOSIS
1. PRENATAL:
Hormonal level in amniotic fluid AF
HLA typing of AF or CVS cells
Molecular genetic testing of AF or CVS cells
CYP21 gene mutation
2. NEONATAL:
✓ Neonatal screening method.
✓ ↑ 17-OH progesterone
✓ Affected females have ↑↑ testosterone levels
✓ Both genders have ↑ androstenedione levels
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Management of CAH
✓ Function of adrenal
✓ Multidisciplinary approach
• Neonatologist
• Pediatrician
• Endocrinologist
• Urologist
• Plastic surgeon
• Radiologist
• Geneticist
❖ 21-β hydroxylase Deficiency
>90 % cases, 2 types
a. Classical b. Nonclassical
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o GLUCOCORTICOIDS THERAPY
• HYDROCORTSINE SODIUM SUCCINATE 15-20 mg/m2/day in 3 equally divided
doses with
✓ Single morning dose
✓ 2/3rd dose in afternoon and
✓ Rest in evening
• Double or triple doses are required in times of stress, surgery or infections.
• Natural steroids like Hydrocortisone and corticosterone are the only steroids that
have necessary mineralocorticoids activity.
• Synthetic steroids like dexamethasone, prednisolone don’t have sufficient
mineralocorticoid effect.
• Monitoring therapy:
✓ Pubertal development by period examination
✓ Skeletal maturation by serial radiograph of wrists and hands
✓ 17-OH progesterone level and androstenedione level early in morning
before taking the morning medications.
✓ Desirable 17-OH progesterone is in high normal or several times normal
level … low level indicate high excess glucocorticoids therapy.
✓ linear growth… maintain along percentile. Higher height percentile under
treatment while loss of percentile and weight gain overtreatment.
o ADRENAL CRISES
• Triggered by stress, infection, surgery.
• Presents as vomiting, dehydration, collapse and shock.
• Decrease (Na, glucose), increase K+ + Hormones (Renin, ACTH, 17-OH
progesterone)
• Mx: Of
✓ of dehydration and shock
✓ correction of electrolytes imbalance
✓ Hydrocortisone IV --mg/m2 stat & then --mg/m2 in 4 divided doses for 1st 24
hrs (infant- 10mg, toddler-25 mg, child-50mg, adolescent-100mg)
✓ Fluid of choice is 5-10% dextrose water with normal saline.
o MINERALOCORTICOIDS THERAPY
FLUDROCORTISONE (FRLURINEF)
• Infant--- (0.1-0.3 mg in 2 divided doses, up to 0.4 mg can be given) often require
sodium supplementation (sodium chloride, 8 mmol/kg) in addition to the
mineralocorticoid.
• Children: --- 0.05 – 0.1 mg daily which is a maintenance dose
• Monitoring therapy:
✓ Vital signs; tachycardia and hypertension are signs of overtreatment with
mineralocorticoids.
✓ Serum electrolytes should be measured frequently in early infancy as
therapy is adjusted.
✓ Plasma renin activity is a useful way to determine adequacy of therapy; it
should be maintained in or near the normal range but not suppressed.
o ANTIANDROGEN
• such as FLUTAMIDE to block the effects of excessive androgen levels, and/or
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• an aromatase inhibitor such as ANASTROZOLE, which blocks conversion of androgens to
estrogen and thus retards skeletal maturation, a process that is sensitive to estrogens in
both boys and girls. Aromatase inhibitors generally should not be used in pubertal girls
because they will obviously retard normal puberty and may expose the ovaries to
excessive levels of gonadotropins.
o GROWTH HORMONE,
with or without LUTEINIZING HORMONE–RELEASING HORMONE AGONISTS to retard
skeletal maturation, has been suggested to improve adult height.
o SURGICAL MANAGEMENT OF AMBIGUOUS GENITALS
• 2-6 months of age should be the age of intervention
• Each reconstructive surgery should be preceded by cystourethroscopy.
• Steps of surgery
✓ Clitoral resection
✓ Vaginal extravasation
✓ Labioscrotal resection
✓ Reconstruction of labia minora
• Revised surgery at adolescence.
2. SIMPLE VIRILIZING 21-β HYDROXYLASE DEFICINCY
• Hydrocortisone to suppress adrenal androgen synthesis
• This may stimulate pituitary gonadotrophins release leading to true precocious puberty.
• Such patient should be treated with GnRH analogue like Leuprolide
• PRENATAL RX
✓ Dexamethasone that crosses placenta 20 µg/kg pre-pregnancy maternal weight
in 2 or 3 divided doses.
✓ This suppresses secretion of steroids by the fetal adrenal, including secretion of
adrenal androgens. If started by 6 wk of gestation, it ameliorates virilization of
the external genitals in affected females.
✓ CVS is then performed and Rx continued only if fetus is female.
✓ Effects of therapy:
➢ Fetus: Low birth weight, increased shyness
➢ Maternal side effects of prenatal treatment have included edema,
excessive weight gain, hypertension, glucose intolerance, cushingoid
facial features, and severe striae.
3. 11- β HYDROXYLASE DEFICINCY
• In 11-Oh def, aldosterone and cortisol are not formed but Deoxycortisone (DOC),
precursor of aldosterone is formed in excess causing HTN & Hypokalemia, alkalosis,
• Salt wasting doesn’t occur
• 17-OH progesterone towards formation of excessive androgens resulting ambiguous
genatalia in females and precocious puberty in male.
RX:
• ↑ DOC HTN Rx with Antihypertensive
• Excessive Androgens suppression then by Glucocorticoids
(hydrocortisone).
• Ambiguous genatalia in female Plastic surgery
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4. 3-Β HYDROXYSTEROID DEHYDROGENASE (3Β-HSD) DEF,
• In 3β-HSD def neither cortisol nor aldosterone is formed
• Testosterone is also not formed while DHEA is formed which causes mild virilization in
female and males so both with ambiguous genatalia due to lack of DHT.
• They are salt loser as both aldosterone and cortisol are absent.
Rx:
• Fludrocortisone
• Hydrocortisone
• Male will require Testosterone depots for phallic enlargement in infancy and
replacement therapy at puberty.
5. 17-Α HYDROXYLASE Def
• ↑ DOC HTN
• ↑ progesterone & Pregnenolone
• Hypokalemia
• Suppression of renin
• Male will have ambiguous genatalia
• Female with delayed puberty
Rx:
• Antihypertensive
• Genetic males will require Estrogen/Testosterone replacement at puberty depending
upon gender of rearing.
• If Severe def… even if genetic male … do Gonadectomy & Estrogen replacement at
puberty.
6. LIPOID ADRENAL HYPERPLASIA
• Rare disorder of lipid accumulation in adrenals
• Majority die in infancy
• Severe salt wasting
• Male … pseudo hermaphrodite
• Female … normal at birth, delayed puberty
Rx:
• Glucocorticoid, Flurinef & Estrogen replacement at puberty
7. P450 OXIDOREDUCTASE DEF
• POR is required for activity of CYP17 & CYP21
• Partial def of 17-α & 21-β hydroxylase
• an alternative (“backdoor”) biosynthetic pathway is utilized in which 17 -
hydroxyprogesterone is converted to intermediate metabolite that is a much better
substrate for the 17,20-lyase activity of CYP17 than the usual substrate, 17-
hydroxypregnenolone. The metabolite is then converted in several enzymatic steps to
dihydrotestosterone, a potent androgen.
• Glucocorticoid def
• Male & Female…pseudo hermaphrodite
• Maternal virilization
• Antley Bixler syndrome with features of craniosynostosis; brachycephaly; frontal
bossing; severe midface hypoplasia with proptosis and choanal stenosis or atresia;
humeroradial synostosis; medial bowing of ulnas; long, slender fingers with
camptodactyly; narrow iliac wings; anterior bowing of femurs; and malformations of
the heart and kidneys.
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COUNSELING
Family including parents and patients
✓ AR pattern of inheritance
✓ Prenatal diagnosis
✓ Gender of rearing
✓ Fertility issues
GENDRE OF REARING
In case of 17 hydroxylase & 3Β-HSD) DEF
✓ Controversial issue
✓ Discuss with parents?
✓ Genetic sex & sex of rearing should be the same.
▪ Drugs
✓ Antiandrogen (flutemide)
✓ Aromatase inhibitors
✓ GH with or without LHRH agonists
1st approach
• Regime include Low dose glucocorticoid plus an antiandrogen or aromatase inhibitor
2 approach
nd
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Adrenocortical insufficiency
Clinical presentation: suspected in any moderately or severally ill child who has
1. Unexplained hypoglycemia, hyponatremia and hyperkalemia
2. Antecedent weight loss
3. Hyperpigmentation due to increase in MSH
4. Vomiting
5. Vitiligo
6. Normochromic anemia or unexplained eosinophilia
Diagnosis
Step I: confirm diagnosis & define cause for Adrenocortical insufficiency
Quantity of: cortisol, ACTH, Aldosterone, Renin, 17-OH Progesterone (in newborn)
Diagnosis Cortisol ACTH Aldosterone Renin
Addison’s disease ↓ ↑ ↓ ↑
Aldosterone Def N N ↓ ↓
Pseudohypoaldesteronism N N ↓ N
Adrenal hypoplasia ↓ ↓ or ↑ ↓ ↑
ACTH unresponsiveness ↓ ↑ N N
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Management
❖ Emergency:
1. Fluid to restore intravascular vol. & Renal perfusion
a) 0.9 % NaCl 500 ml/m2 over 1 hr for vol. expansion
b) If hypoglycemia 25 % glucose 2ml/kg (10% in newborn)
2. Glucocorticoids Replacement- Hydrocortisone succinate 75mg/m2/day divided
into 4 doses (this amount has mineralocorticoids activity & can make up for
mineralocorticoids due to infused Na). Normally BP improves in an hr.
Drug Dose
Hydrocortisone 1-2 mg/kg
Prednisone 2 mg/kg divided 3 doses
Methylprednisolone 0.25 mg/kg/day
Triamcinolone 0.03-0.2 mg/kg
Dexamethasone 0.2 mg/kg
❖ Maintenance:
• Oral Fludrocortisone if salt losing variety with physiologic 0.1-0.3 mg/day
• Hydrocortisone 15-20 mg/m2/3 doses
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Addison’s Disease
D/Dx
• ALD… gait issues, regression of milestones
• CAH… dehydration, vomiting, genatalia, FTT
• APG… celiac, thyroid, alopecia, DM, etc
• Fanconi … blood Ix, bleeding, skeletal abnormalities
Cause:
• TB… fever, wt loss, TB contact
• Meningococcemia… rash, child abuse, difficult to sort
• HIV… AIDS
• Drugs … ketoconazole
Labs:
• ACTH, stimulation test, cortisol, aldosterone
• Glucose, S. electrolytes and RFTs
Complication:
• Growth
• Puberty
• Infections
• Fits
• Drug S/E
Course:
• # of admissions
• Complications & management
• Maintaining Rx
END
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CEREBRAL PALSY
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CEREBRAL PALSY
BIODATA: Name, Age, Sex, Address, who is Historian
PRESENTING COMPLAINT:
• Chest infection with fever & cough
• seizures,
• GER
• delayed milestones
NATAL:
Mode of Delivery, Gestational Age, Birth Wt, Instrumental Delivery, Delayed Cry,
Resuscitation, Oxygen Given at Birth, Admission in NICU, Duration of Stay, Reason,
POST NATAL:
NNS, Resp Distress, Seizures, Jaundice(NNJ), Phototherapy, Exchange Transfusion, Meningitis in
Early Infancy, Head Trauma
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DEVELOPMENTAL HISTORY: (establish Isolated or globally)
DETAILED HISTORY/Complications:
❖ FITS (frequency, duration, age of onset, type, last fit, TM compliance, S/E, drug level,
change of TM, episodes of status epilepticus)
❖ Vision (Focus/Clonus, Squint, Nystagmus)
❖ HEARING… Response/ Aids
❖ SPEECH (dysarthria, expressive or receptive aphasia)
❖ MR
❖ Spasticity… contractures(motor) & ascertain type of CP… quadriplegic spastic, diplegic,
dyskinetic, hemi, floppy
✓ Establish type of CP
• Spastic … Hemiplegic/diplegic/quadriplegic
• Ataxia
• Dyskinetic … 1st ataxia then spastic
❖ Abnormal movements/ fine Motor… Toy play
❖ Behavior (hyperactivity, depression)
❖ Activity of daily living (sitting/standing/walking, teething, bathing, washing, combing hair,
toilet, feeding … calculate calories/current calories)
❖ Ask abt recurrent LRTI, UTI, otitis media, constipation
❖ Bed sores…. Dental caries... incontinence, neurogenic bladder, sphincter control
FEEDING HISTORY:
• Feeding & nutrition (sucking, swallowing difficulty, NG feed, GERD, gastrostomy, aspiration,
FTT)
• # of calories taken per day
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INVESTIGATIONS: CT/MRI brain, EEG, karyotyping, metabolic, TORCH screening
FOLLOW UP: # of visits, local GP, pediatrician, physio or speech therapist, ortho, neuro
SOCIAL HISTORY:
• impact on family, financial burden, social burden, how much time mother spends with
child?
• Are other children affected/neglected?
• Is family relation affected by child’s illness?
DRUGS:
• Epival: fast, bleeding & jaundice
• Revotril: increase secretion of resp. tract and drowsiness
• Debritone:
• Carbamazepine:
• Lerace:
EXAMINATION:
• Introduction, consent, Rt side of patient
• Inspection: posture, accessary, dysmorphism
• GPE:
✓ Pallor, clubbing, vitals, jaundice, Ht & Wt(plot), OFC
✓ Signs of micronutrient … hairs, eye, oral hygiene & thrush, ears
✓ Pedal edema, hypo/hyperpigmentation
✓ Bed sores
• Developmental assessment: hand preference
• Primitive reflexes:
✓ Moro
✓ Grasp
✓ Landau
✓ Tonic neck reflex
• Motor:
✓ UL + LL
✓ Contracture & range of movement
✓ If patient can walk … look for gait
• Cereberal signs:
• SOMI:
• Fundoscopy: optic atrophy
• Sensory system + spine:
• Relative:
✓ Heart: murmur
✓ Chest: detail for infections
✓ Abdomen: fecal impaction, urinary bladder, kidneys
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D/Dx of CP
a) Post-meningetic sequale:
sudden regression, ↑ ICP, large head.
b) DBD/SSPE:
regression of mile stones, Hx of measle, ↑CSF protein
c) Tumor:
regression and ↑ ICP,
d) Muscular dystrophy:
No spasticity, ↓↓ /absent reflexes, normal /↑ CPK,
e) SMA:
• Mimic atonic cp
• Early hpotonia
• Normal mentally
• Absent reflexes
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CEREBRAL PALSY
It is a static encephalopathy/ disorder of posture & movement due to any insult to growing brain in
1st 2 years of life often accompanied by disorder of speech, vision & hearing.
CAUSES: 80% structural brain malformation, 10% HIE…. MRI is more useful
❖ Commando crawl: the child uses arms in normal reciprocal fashion but tends to drag the legs
behind the arm as rudder. Most common muscles involved are paraspinal, hip flexors,
adductors, hamstrings, gastrocnemius
❖ SPASTICITY: increased resistance in 1st few degrees of passive movt & then suddenly
decreases. UMNL… lead pipe rigidity
❖ RIGIDITY: increased resistance thruout passive movt… basal ganglia lesion… clasp knife
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problems,
athetosis is
often present
❖ SPASTICITY:
➢ oral diazepam… 0.5-7.5mg/dose BD/QID
➢ BACLOFEN…. 0.2-2mg/kg/day BD/TDS or dantrolene… 0.5-10/kg/day BD
➢ L DOPA … 0.5-2mg/kg/day for dystonia,
➢ Trihexyphenidyl 0.25mg/day BD/TDS
➢ Resperine ….0.01micgm/kg/day
➢ IT baclofen, implantable pump continuous delivery S/E… apnea, dec HR, RR, BP, local inf,
meningitis
➢ BTX A I/M: prevents release of Ach…. Onset of action in 1-3 days, duration for 3-6 mths
indication…
• dynamic contracture in absence of fixed deformity, given to gastrocnemius,
tibilalis posterior, hamstring, neck flexor, iliopsoas.
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• S/E: local weakness, falls, local pain, incontinence, gait disturbance
❖ ORTHOPEDIC SURGERY:
❖ HEARING:
▪ Mild (25- 45 db) … No T/M
▪ Moderate. (45-65 db) … hearing aid
▪ Severe (65-85 db) … Aid
▪ Profound (> 85db) … special education of deaf
❖ EXCESSIVE SALIVATION….
▪ Reimplant duct into pharynx,
▪ Gland removal,
▪ Section of chorda tympani,
▪ BTX inj in salivary gland,
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▪ Anti-cholinergic
❖ GERD, FEEDING, VISION, HEARING, DIET, SCHOOLING, SPEECH THERAPY
Manifestation Percentage
Fits 60
Hearing defect 10-15
MR 25-50
Visual defect 30 %
Microcephaly 25%
Speech defects 40%
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• Familial Delay … IEMs
• Environmental … Neglected Child
Sit unsupported
< 2yrs 97% will walk
Bw 2-4 yrs 50%will walk
After 4 yrs 3% will walk
ATNR at 4 yrs 0%
Hemi.100%
di.90
Walking prognosis Ataxic… 88% Quadriplegic..18%
❖ PRIMITIVE REFLEXES:
▪ ATNR: is present from birth till 3 mths, if present till 6 mths, suspect cerebral palsy
▪ Dolls eye reflex: neonates eye moves in direction of head till 3 week.
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NEPHROTIC SYNDROME
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Approach to a child with Generalized Body Swelling
Generalised
Body Swelling
History Taking
Greet and take consent
Name? Age? Resident of?
• Swelling:
✓ For how long? is it increasing, decreasing or static?
✓ More marked in morning and gradually subsides as the day passes?
✓ Ask for associated hematuria, oliguria, dysuria, cola colored urine, headache, upper
respiratory tract infection (1-2 weeks back) or skin infection (2-3weeks back)→nephritic
symptoms
• Chronic diarrhea (PLE)
History of jaundice? Duration? Vaccination? Blood Tx? Surgical interventions (CLD)
• Dyspnea, palpitation, recurrent chest infection, chest pain (CCF)
• Detail dietary history with caloric intake (Malnutrition)
• Fever, joint pain, rash, seizure, oral ulcer, abdominal pain, hematochezia (SLE/HSP)
Rule out complications of NS:
▪ Cough and respiratory distress (Pleural effusion)
▪ Abdominal pain, vomiting and fever (SBP)
▪ Seizure and Hemiplegia (Emboli)
▪ Unilateral limb swelling (DVT)
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Previous history of swelling, age at onset, hospitalization, reason of admission, labs conducted,
duration of treatment, drugs, steroid exposure pattern (Try to establish SDNS, FRNS and SRNS),
and complications related to disease or drugs, biopsy done or not
Past history of prolonged cough, TB or DM
Family history of NS, anyone on dialysis or renal transplant
Drug history:
• -Steroids: striae, skin infections, cushingoid, oral thrush, cataract, hypertension
• -Cyclophosphamide (Endoxan): Leucopenia, hemorrhagic cystitis, alopecia and gonadal
toxicity
• -Levamisole: leucopenia, pruritis, alopecia
• -Cyclosporine: nephrotoxicity, hypercholesterolemia, gout, HTN
• -Tacrolimus: nephrotoxicity, hyperglycemia, GI upset
Vaccination status/Development/ Birth history
Examination:
Refer to Wayne Harris short case of edema
✓ Greet and consent
✓ Height, weight and blood pressure
✓ Edema- extent and grade
✓ Look for pleural, pericardial, ascetic and scrotal fluid collection
✓ Look for signs of drug toxicity
✓ Eye exam cataract
✓ Neurological exam→weakness of any limb
❖ Definition / criteria:
o Edema: Progressively increasing edema (1)Decreased intravascular oncotic pressure
→Dec renal perfusion→ RAAS, 2)ADH release secondary to increased Osmolality
3)Inhibition of ANP
o Proteinuria: > 3 gm/day or Spot ratio urinary protein and creatinine > 2 (Filtration
barrier defect)
o Low serum albumin: < 2.5mg/dl
o High cholesterol: > 200 (increased hepatic anabolic activity production of proteins and
lipids)
Management:
1)Edema:
-Daily weight
-Fluid and salt restriction
-Diuresis in NS is indicated only if child develops respiratory distress, tense ascites or
anasarca compromising daily activity.
-Furosemide – bolus or infusion
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2)Proteinuria
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❖ Relapse off steroids:
▪ Treat as per relapse protocol. Steroids 2mg /kg daily for 2 weeks then
▪ 1.5mg/kg EOD 6 weeks and then stop
❖ Levamisole failure:
▪ Two relapses during any 6 months of Levamisole therapy
❖ Steroid resistant Nephrotic syndrome: (No urinary remission despite 4-6 weeks of full
dose steroids)
➢ Nelson text book and Wyne Harris → 8 weeks
▪ Cyclosporine 5mg/kg/day divided twice a day OR Tacrolimus 0.1mg/kg/day divided
twice a day
▪ Steroid 1mg/kg every alternate day
▪ -MMF
▪ -Rituximab
3) Hypoproteinemia
▪ Albumin infusion in case of significant edema
▪ Dose: 1gm/kg over 45-60min with Furosemide 2mg/kg
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Special Considerations
➢ Nutrition:
✓ Restrict fluids and added salt till edema is present. Otherwise advise normal healthy
diet.
✓ Increase proteins in diet by 130-140% of RDA
✓ Avoid saturated fats
➢ NPO children: If child is NPO for any reason then administer intravenous hydrocortisone
1/4th dose of prednisolone or equivalent dose of methylprednisolone
Recent Advances:
• Genetic workup and avoidance of immunosuppression in hereditary and Syndromic NS
• Diagnosis of steroid resistance on the basis of biomarkers
1. -Steroid resistant NS
2. -Nephrotic syndrome with persistent renal failure
3. -Adolescent NS (age > 12 years)
4. -NS with low compliment levels
5. -Prior to starting CNIs in SDNS or FRNS
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Nephrotic Syndrome
Nephrotic Syndrome is characterized by
a) edema,
b) Hypoalbuminemia (< 2.5 mg /dl),
c) proteinuria (> 40mg/m2/hr or Pr: Cr > 2) and
d) hypercholesterolemia (> 20mmg /dl)
SDNS
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Treatment of first Episode
Deltacortil 2mg/kg/day
Deltacortil 2mg/kg/day
F/U 2 weeks with urine dipstick
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Treatment of Relapse
Deltacortil 2mg/kg/day
❖ Treatment of Adolescent NS
▪ Protocol for the treatment of Adolescent NS remains same as that of childhood.
Few additional steps are followed like:
✓ Renal biopsy to establish histopathological diagnosis at the initial visit
✓ -Labs: Hepatitis B and C Serology Compliments C3, C4, ANA and dsDNA
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Treatment of SDNS
Continue CyP
Deltacortil 1mg/kg EOD
Continue CyP
Deltacortil 0.5mg/kg EOD
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Treatment of FRNS
Continue Levamisole
Deltacortil 1.5mg/kg EOD 2 weeks
Deltacortil 1 mg/kg EOD 2 weeks
❖ Relapse on steroids:
▪ Switch to full dose steroids 2mg/kg daily for weeks 2 weeks then
▪ 1.5mg/kg EOD for 6 weeks
▪ Then keep on original dose of steroids on which child relapsed
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❖ Relapse off steroids:
▪ Treat as per relapse protocol. Steroids 2mg /kg daily for 2 weeks then
▪ 1.5mg/kg EOD 6 weeks and then stop
❖ Levamisole failure:
▪ Two relapses during any 6 months of Levamisole therapy
£…. End …. £
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