A 4 month old boy with jaundice since birth

Dr Ira Shah

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A 4 month old boy with jaundice since birth

Dr Ira Shah.

Medical Sciences Department, Pediatric Oncall, Mumbai, India.

ADDRESS FOR CORRESPONDENCE
Dr Ira Shah, Medical Sciences Department, Pediatric Oncall, 1, B Saguna, 271, B St. Francis Road, Vile Parle {W}, Mumbai 400056.

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Clinical Problem
Clinical History: A 4 month old boy born of third degree consanguineous marriage presented with jaundice, high colored urine and yellow stools since day 2 of life. He was a full term normal delivery with birth weight of 3.3 kg. At 27 days of life, he was investigated for his jaundice and had the following reports:
· S. Bilirubin = 9.06 mg/dl (Direct = 6.17 mg/dl)
· SGPT = 211 IU/L, SGOT = 304 IU/L.
· Urine Bile salts & pigments – positive
· GGTP = 605 U/L (↑)
· HIV, HBsAg, Anti HCV = negative
· G-6-PD = normal
· Thyroid function tests = normal
· TORCH IgM = negative
· VDRL = negative
· Blood group = O +ve
· Urine reducing substance = negative
· USG Abdomen = normal

He was treated with multivitamins in cholestatic doses and discharged. At 50 days of life, his jaundice still persisted and he was reinvestigated:

· S. Bilirubin = 9.31 mg/dl (Direct = 4.62 mg/dl)
· SGPT = 294 IU/L, SGOT = 479 IU/L
· GGT = 226 U/L
· Prothrombin time (PT) = 44.6 sec.
· Partial thromboplastin time (PTT) 29.6 sec.
· HIDA scan = Hepatic dysfunction. No tracer excretion after 24 hours
in the intestine.
· Liver biopsy : Marked cholestasis with variable degree of hepatocellular swelling,
multinucleation.
· USG Abdomen = Normal
· CT abdomen = Normal.

He was treated with Fresh frozen plasma (FFP) and discharged. On presentation to us at 4 months, he had icterus, petechiae, hepatosplenomegaly and ascitis with yellow colored stools. His ascitic tap revealed peritonitis (250 cells/cumm, 80% polymorphs) with deranged PT, PTT, positive occult blood in stools and portal hypertension. He was treated with IV antibiotics, FFP, Diuretics, propranolol and blood transfusion. MRI with cholangiogram showed nodular liver with ascitis and splenomegaly with normal excretion suggestive of cirrhosis with portal hypertension. His liver function tests showed increasing bilirubin (22.4 mg/dl – 41.1 mg/dl) with deranged liver enzymes and hypoalbuminemia and normal alkaline phosphatase.
Other workup for his neonatal cholestasis led to the diagnosis.

What further investigations are required to diagnose the etiology of Neonatal Cholestasis?

Discussion
Dr Ira Shah:
This child has a neonatal cholestasis with yellow colored stools. Thus obstructive etiology seems unlikely. Since he has progressed to cirrhosis and portal hypertension, one would suspect an infective or metabolic cause. An infective etiology seems unlikely as he does not have any evidence of other system involvement which would be seen usually with a congenital infection. Thus, one would consider a metabolic cause such as galactosemia, fructosemia, tyrosinemia, Alpha-1 antitrypsin deficiency and even cystic fibrosis. To rule out an infection, apart from IgM titres (which may be elevated in intrauterine period) and come back to normal in post natal life), one must do IgG titres also and if positive, serial monitoring to determine if it is a rising trend or decreasing trend.
For a metabolic screening, one needs to do urine chromatography apart from urine for reducing substance as the latter can also be negative inspite of galactosemia. In this child, his serum alpha-1 antitrypsin levels were normal. His TORCH IgG showed positive CMV, HSV and Rubella which on repeat screening after 1 month showed decreasing trend suggestive of passively transmitted maternal antibodies. His urine chromatography showed galactosuria, increased galactilol and galacterate with increased 4 hydroxylactic acid suggestive of galactosemia which was confirmed by absent epimerase enzyme level in blood. Thus, this child was confirmed to have galactosemia and breast feeding was stopped and child was started on soya milk. However, the child’s jaundice and ascitis continued to increase due to irreversible progression to cirrhosis.
This child would have had a good prognosis if his galactosemia had been diagnosed earlier and intervened early.

Compliance with ethical standards

Funding: None

Conflict of Interest: None

Cite this article as:
Shah I. A 4 month old boy with jaundice since birth. Pediatr Oncall J. 2005;2: 37.