Case presentation NICU

PREPARED BY DR. MOHAMED DARDASAWI Pediatric resident, NPH

Supervised by Dr.Shireen Abed

Personal history
Name: M H ALATAR Date of birth : 30/11/2013 Date of admission: 6/12/2013 (6 days) Address : Bit Lahia

Chief complaint

Poor suckling , bluish discoloration of mucus membranes , difficult of breathing since 2 days of age.

History of present illness

A 6 days male neonate presented to our department with progressive dyspnea started at age of 2 days, associated with cyanosis and poor suckling .

Perinatal history
FT pregnancy, NSVD The mother has been told 2 days before delivery that fetus has cardiac problem without specific diagnosis.

Family history
healthy mother 33 years old Healthy father 34 years old positive consanguinity 5 healthy siblings ( 2 sister and 3 brother ) no history of genetic , metabolic disorders or similar condition

PHYSICAL EXAMINATION
General appearance : Lethargic , cyanosed ,in respiratory distress Vital sings : RR: 65 O2 Sat (room air): 65% HR: 70 -100 Temp: 38 C BP: unmeasurable

ANTHROPOMETRICS: Weight: 3.5 kg , length 50 cm, HC : 35 cm

Chest : RD II (tachypnea with subcostal and intercostal retractions), decrease air entry bilateral , no added sounds

CVS: poor peripheral perfusion , weak pulses, very faint heart sounds . Abdomen : soft but distended with hepatomegaly (5cm below costal margin) CNS : lethargic, hypotonia with weak reflexes SKIN : olive green jaundice

What is the diagnosis?

Provisional diagnosis
A FT neonate with highly suspected CHD
antenatal diagnosis of cardiac problem RD and poor suckling since 2nd day of life Evident signs of hypoperfusion

laboratory investigations
ABGs : PH 7.2 , PCO2 51, PO2 36 , sat 55%, HCO3 19, BE -9 CBC : Hb 15, WBC 14, PLT 63.000 sugar 8 , ALT 396, AST 918, ALKP 438 , LDH 871 ,CHOL 91, TG 95, Ammonia 141 T.protein 7.3 , Albumin 3.5 , T.bil 21, D. bil 10 PT 40 ,INR 3 ,PTT 65 urea 130, CRE 0.8 , Uric acid 10 , Na 145, K 7.3 , Ca 7.4 ,Ph 7

Radiology
Chest x ray: Cardiomegaly with bilateral lung infiltrations. U/S Abdomen : hepatomegaly U/S brain : normal ECHO : dilated Cardiomyopathy (secondary), normal heart structure , moderate contractility

Diagnosis
Cardiomyopathy complicated by: Heart failure Hepatic failure Acute kidney injury Suspected mitochondrial disorders

Management
Cardiorespiratory stabilization and support Keep on MV Dopamine 10 mic /kg/min Dobutamine 10mic /kg/min monitoring blood pressure

Management
Liver support ADEK vitamins Ursodeoxycholic acid Kept initially NPO, TPN 1g/kg intralipid and 1g/kg aminosol Then given pregestamil milk Randine , flagyl FFP

Management
Acute kidney injury Meticulous attention to fluid input/output Drugs adjusted to GFR

Management
Other lines of management Antibiotics given empirically to cover any possible sepsis Repeat blood transfusion as needed Symptomatic management: phenobarbitone added for development of seizures

Clinical course in NICU

Day 2: Bad general condition HR 160 RR 50 BP 95/50 sat 95% on nasal O2 Assessment : Heart failure with cardiomyopathy( dobutamine) Liver failure AKI Convulsions add luminal

Day 3: Still in bad general condition Dopamine 10 mic /kg/min Dobutamine 10 mic/kg/min Put on MCV Start TPN

Day 7 :
CBC ; Hb 15, WBC 8, PLAT 116 ABGs ; PH 7.5 , PCO2 48, PO2 37 , sat 74%, HCO3 37, BE 10 sugar 117 , ALT 46, AST 30, ALKP 438 , T. protein 7.3 , Albumin 3.5 , T.bil 25, D. bil 15 PT 22 ,INR 1.3 ,PTT 46 urea 34, CRE 0,7 , Uric acid 2,4 , Na 145, K 4 , Ca 9 ,Ph 3,7 Blood and urine culture : negative

Day 8 : Still in bad general condition Kidney function improved( urea 54, crea 0,5) Still on MCV ( dopamine and dobutamine ) TPN Day 18: Start weaning from MCV Dopamine and dobutamine 5mic CVS : irregular heart rate with bradycardia ECG was asked Start pregestamil milk

Day 20:
Stop TPN Extubation from MCV Stop dopamine CBC ; Hb 13, WBC 9,7 , PLAT 247 ABGs ; PH 7,5 , PCO2 34, PO2 190 , sat 100%, HCO3 26, BE 4 (0N MCV) sugar 63 , urea 31, CRE 0,6 ,, Na 137, Cl 119, K 4 , Ca 10 , T.bil 12,5 D. bil 7,5

Day 22 : Stop dobutamine Start captopril Day 25: Cholastasis improved (T. bil 6 , D bil 4 ) Lasix Digoxin Stop phenobarbitone Day 29: sugar 73 , urea 19, CRE 0,4 , T.bil 5 , D. bil 3,5 T. protein 5 , Albumin 3

Further investigations
anti-SSA/Ro, anti-SSB/La were negative TORCH: was asked but not done

Our final diagnosis

Dilated cardiomyopathy Arrhythmia Cholestasis

Highly suspected IEM (Mitochondrial disorder)

Discharged to Rantisi Hospital after 31 days of admission

On moderate general condition HR 100 RR 59 BP 97/60 SAT 99% ( room air) Digoxin 20 mic /12h po Lasix 4mg /8h po Captopril 1,5 mg /8h Ursodeoxycholic acid 40mg /8h po Adol 2 drop /24 po Vit k 2mg /24 po

What has been done in the referral hospital?

Severe cardiomyopathy AV block Sebrrhic dermatitis RSV bronchiolitis Acintobacter central line colonization

Pacemaker insertion Lasix 3 mg /24h Captopril 1.5 mg /12h Spironolactone 12.5 mg /24h Carvedilol 1mg /24h Aquacream emollition Ointment polycutan

Diagnosis
CARDIOMYOPATHY COMPLICATED BY AV BLOCk , AKI and CHOLESTASIS

NEONATAL CHOLESTASIS

DEFINITION
Conjugated

hyperbilirubinemia is defined as a conjugated bilirubin concentration greater than 2 mg/dL or more than 20% of total bilirubin Prolonged elevation of the serum levels of conjugated bilirubin beyond the 1st 14 days of life

ETIOLOGIES
Basic distinction is between:
Extrahepatic etiologies Intrahepatic etiologies

EXTRAHEPATIC ETIOLOGIES
Extrahepatic biliary atresia Choledochal cyst Bile duct stenosis Spontaneous perforation of the bile duct Cholelithiasis Inspissated bile/mucus plug Extrinsic compression of the bile duct

INTRAHEPATIC ETIOLOGIES
Idiopathic Toxic Genetic/Chromosomal Infectious Metabolic Miscellaneous

INTRAHEPATIC ETIOLOGIES
Idiopathic Neonatal Hepatitis Toxic

TPN-associated cholestasis Drug-induced cholestasis

Genetic/Chromosomal
Trisomy 18 Trisomy 21

INTRAHEPATIC ETIOLOGIES

Infectious
Bacterial sepsis (E. coli, Listeriosis, Staph. aureus) TORCHS Hepatitis B and C Varicella Coxsackie virus Echo virus Tuberculosis

INTRAHEPATIC ETIOLOGIES

Metabolic
Disorders of Carbohydrate Metabolism
Galactosemia Fructosemia Glycogen Storage Disease Type IV

Disorders of Amino Acid Metabolism

Tyrosinemia Hypermethioninemia

INTRAHEPATIC ETIOLOGIES

Metabolic (cont.)
Disorders of Lipid Metabolism
Niemann-Pick disease Wolman disease Gaucher disease Cholesterol ester storage disease

Disorders of Bile Acid Metabolism

3B-hydroxysteroid dehydrogenase/isomerase Trihydroxycoprostanic acidemia

INTRAHEPATIC ETIOLOGIES

Metabolic (cont.)
Peroxisomal Disorders
Zellweger syndrome Adrenoleukodystrophy

Endocrine Disorders
Hypothyroidism Idiopathic hypopituitarism

INTRAHEPATIC ETIOLOGIES

Metabolic (cont.)
Miscellaneous Metabolic Disorders
Alpha-1-antitrypsin deficiency Cystic fibrosis Neonatal iron storage disease North American Indian cholestasis

INTRAHEPATIC ETIOLOGIES

Miscellaneous
Alagille syndrome Nonsyndromic paucity of intrahepatic bile ducts Carolis disease Bylers disease Congenital hepatic fibrosis

COMMON ETIOLOGIES
Idiopathic neonatal hepatitis 35-40% Extrahepatic biliary atresia 30% Alpha-1-antitrypsin deficiency 5-10% Intrahepatic cholestasis syndromes Premature infants

TPN-associated Sepsis Drug-induced

Treatable causes of cholestasis

Sepsis Hypothyroidism or hypopituitarism Galactosemia Extrahepatic biliary atresia

Is there association between arrhythmia and cholestasis??

Neonatal cholestasis associated with arrhythmia

ECG showing third degree heart block with atrioventricular dissociation and slow ventricular rate (atrial rate is 150, ventricular rate is 85 bpm).

Congenital heart block

Congenital heart block is a rare disorder. It has an incidence of about 1 in 22,000 live births. neonatal lupus structural heart disease(L TGA, AV canal defects ) Many times, no clear etiology is determined for isolated CAVB The prognosis for congenital complete heart block is usually favorable

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