Diagnostic Dilemma

Neonatal Cholestasis

A 3½ months old boy born of non-consanguineous marriage presented with jaundice since Day 3 of life, fever, vomiting and loose motions with blood for 3 days and swelling over left thigh since 2 days. There was no clay coloured stools or maternal fever during pregnancy. He was a full term normal delivery with birth weight of 2.5 kg and had achieved normal milestones till date. On examination, he was deeply icteric, had tense anterior fontanelle with decerebrate posturing. Fundus examination was normal. There were no cataracts. He had pallor with hepatosplenomegaly. There were no signs of dehydration. Investigations showed:
• Hemoglobin = 8.4 gm, dl
• WBC = 12,300, cumm {43 percent polymorphs, 52 percent lymphocytes}
• Platelet count = 3,10,000, cumm
• SGOT = 1330 IU, L, SGPT = 310 IU, L
• Serum bilirubin = 24.2 mg, dl {direct = 9.1 mg, dl}
• Total proteins = 6.3 gm, dl, Albumin = 3.3 gm, dl
• GGTP = 22 mg, dl {Normal}
• Alkaline phosphatase = 3011 IU, L {elevated}
• Calcium, phosphorus, electrolytes, blood gas = Normal.

The child died within 4 hours of admission due to pulmonary hemorrhage.

What is the cause of neonatal cholestasis_?
Answer Discussion :
Ramya Kemparaju
13 years ago
azeem khanc
Galactosemia, Tyrosenimia or NISD
13 years ago

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