Diagnostic Dilemma

Chronic liver disease


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Question

Case Report:- A 4½ years old girl presented with abdominal distension which is progressive since 1 year; jaundice, fever and edema feet for past 10 days. She has pain in abdomen. There is no history of jaundice in past or blood transfusion. She was investigated for same and detected to have hepatosplenomegaly on ultrasound with ascitis. Color Doppler was normal. On examination, she had doll’s facies, icterus, pallor, ascitis, hepatosplenomegaly and normal nutrition (weight = 15 kg, height = 96 cm)


 


Investigations showed:



  • Hemoglobin = 8.4 gm/dl

  • WBC = 8,900/cumm (11% polymorphs, 85% lymphocytes)

  • Platelet count = 1,69,000/cumm

  • ESR = 62 mm at end of 1 hour

  • Prothrombin Time (PT) = 16.1 seconds (prolonged)

  • Partial Thromboplastin Time (PTT) = 83 seconds (prolonged)

  • Bilirubin = 13.4 mg% (Direct = 7 mg %)

  • SGOT = 282 IU/L, SGPT = 114 IU/L

  • Total proteins = 6.7 gm% (Albumin = 2.1 gm %)

  • Blood sugar = 107 mg%

  • GGTP = 25 IU/L

  • Ammonia = 349 µg/dl (elevated)

  • Urine reducing substance = Negative

  • Blood gases, uric acid = Normal

  • Ascitic tap = 19 lymphocytes, proteins = 1.8 mg%

  • Ophthalmology = No KF ring/cherry red spot or chorioretinitis

  • ANA, Anti LKM, Anti smooth muscle Antibody = Normal

  • Alpha 1 Antitypic = Normal

  • Echocardiography = Normal heart

  • HCV, HBsAg = Negative

The child was treated with FFP, Metronidazole and Multivitamins. She subsequently had fever, thrombocytopenia (platelet count = 98,000/cumm) and died following a pulmonary bleed.



What is the diagnosis?
Expert Opinion :
This child`s neonatal cholestasis resolved on its own. His HBsAg at 6 months of age was negative. Thus Hepatitis B was not the cause of neonatal cholestasis.
Answer Discussion :
M
ma bhandari
bubble
cirrohsis
17 years ago
K
Karat Dasan
bubble
Glycogen Storage Disease
17 years ago

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