Diagnostic Dilemma - Pediatric Oncall
Author: Pediatric Oncall
A 1 year old girl born of non consanguineous marriage presented with fever, cough and cold for 4 days and respiratory distress for one day. She had delayed milestones. Birth history was normal. On examination, height was 67 cms, weight was 7.5 kg with large hepatomegaly and drowsiness without focal neurological deficit. The child went into cardiorespiratory arrest but was revived but subsequently had repeated cardiorespiratory arrests in next 15 days and died. Investigations had revealed
• Hemoglobin = 10.7 gm, dl
• WBC count = 20,400, cumm {81 percent polymorphs, 19 percent lymphocytes}
• Platelets = 4,50,000, cumm
• Bilirubin of 0.6 mg, dl, SGOT of 366 IU, L, SGPT of 210 IU, L, total proteins of 5.3 gm, dl, albumin of 3.1 gm, dl
• Prothrombin time = 12.9 sec, partial thromboplastin time = 33.9 sec.
• CPK = 3892 mg, dl
• Urine organic acids = Normal
• Echocardiography, ammonia, uric acid = Normal
• Fundus = Normal
• MRI = white matter demyelination
• USG Abdomen = Hepatomegaly

Post mortem liver biopsy or bone marrow biopsy could not be done as parents refused the same.
Answers of this discussion
Author :- Mindy Klugman on 07 November 2016.
Answer :- glycogen storage

Author :- GILBERT OLBARA on 08 November 2016.
Answer :- Hepatic encephalopathy

Author :- Anna Teano on 10 November 2016.
Answer :- multiple sclerosis

Author :- bunny on 12 November 2016.
Answer :- hepatic enchepalopathy

Author :- Dhafer AlShehri on 13 November 2016.
Answer :- Gusher

Author :- Ronald Eveillard on 13 November 2016.
Answer :- Reye Syndrome

Author :- MERCY KURIAN on 13 November 2016.
Answer :- Alpers syndrome

Author :- lavenya r padmanaban on 13 November 2016.
Answer :- Differentials are Pompe`s disease, Neimann pick disease, mitochondrial disorders

Author :- enrico conti on 13 November 2016.
Answer :- Nieman-pick

Author :- nalini on 15 November 2016.
Answer :- Reye like presentation,r, o Fatty Oxidation Disorder

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