Diagnostic Dilemma

Is it really biliary atresia_?

A 10 years old boy presented with ascites and joint stiffness for 1 month. He was operated at 4 months of age for biliary atresia and a Kasai surgery was done. There is a history of neonatal ichthyosis and now prolonged itching. He also had persistent jaundice post kasai surgery. He was born of third degree consanguineous marriage and milestones were normal. On examination, weight was 29.2 kg, height was 134.5 cm, he had clubbing with jaundice, hepatosplenomegaly, ascites, hypotrichosis, alopecia and dry scaly skin {Figure 1}. Other systems were normal. Investigations showed: bilirubin 3.3 mg, dl {direct 2.7 mg, dl}, SGOT = 124 IU, L, SGPT = 65 IU, L, Total proteins = 4.2 gm, dl, Albumin = 2.1 gm, dl and alkaline phosphatase 418 IU, L. Prothrombin time {PT} was 19 sec and PTT was 36 sec. Ultrasound abdomen showed cirrhosis with splenomegaly and ascites and reversal of flow in portal vein. He had hypersplenism in form of hemoglobin of 8.8 gm, dl, white cell count of 4900 cells, cumm and platelets of 1,19,000, cumm. He was suspected to have NISCH syndrome and peripheral smear did not show vacuolated white cells but thyroid functions showed Free T3 of 3.93, Free T4 of 1.29, TSH of 7.555 and lipid profile was normal {cholesterol = 129 mg, dl, triglycerides = 108 mg, dl though HDL cholesterol was low 15 mg, dl}. He was advised genetic studies but was subsequently lost to follow up.

Is this biliary atresia with neonatal ichthyosis and alopecia_?
Expert Opinion :
The child seems to fit into Neonatal Ichthyosis Sclerosing Cholangitis {NISCH} syndrome is a rare autosomal recessive condition characterized by ichthyosis, sclerosing cholangitis and alopecia. It has been determined to be an autosomal recessive disorder with mutation in gene encoding claudin-1 being mapped to chromosome 3q27-q28. {1,2} Other abnormalities that have been detected are hypodontia, oligodontia, enamel hypoplasia and intracytoplasmic vacuoles in leukocytes.

1. Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal S et al. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. J Jhvest Derm. 2002`119:70-76.
2. Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M et al. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis : a tight junction disease. Gastroenterology 2004`127:1386-1390.
Answer Discussion :
somanath kumbhar
yes, this is biliary atresia
8 years ago
ruby osabutey
8 years ago

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