Total Bilirubin of 46mg in a 10year old

A case of Pyruvate kinase deficiency post splenectomy presenting with Bilirubin of 46mg %.

Dr.Akshay Kishore , Dr.Bhanu Vikraman Pillai , Dr.C.Jayakumar AIMS Kochi

10 year old female known case of Pyruvate kinase deficiency post
splenectomy presented with of severe abdominal pain and child was yellowish in
appearance of acute onset .Fever/abdominal-distension were absent.
Clinically vitals were stable but icteric till legs. Hepatomegaly of 3cm below the right costal
margin was noted . Other GI examination and systems were normal . Differential diagnosis
Considered were various causes of Hepatitis and choledocholithiasis in view of severe
abdominal pain. CBC (except HB 8.9gm%),CRP were normal. Total serum bilirubin was 46
mg% with direct fraction of 40.51mg% Total protein PT/INR Hepatitis serology were normal
and there was no AG reversal. There was no transaminitis. Pre op serology(HIV,HepB HepC
) were negative. Magnetic resonance cholangiopancreatography(MRCP) was done and that
showed distal gall bladder calculus causing proximal biliary dilatation – cholelithiasis.
Endoscopic retrograde cholangiopancreatography was done subsequently which showed
dilated CBD. Bilateral sphincterotomy was done and stone fragments were retrieved.

1st image showing the stone fragment which was black in colour. Second image is of ERCP
showed filling defect in CBD. Post ERCP , bilirubin remained almost the same. Plan is to
give a trial of Ursodeoxy cholic acid and Fat soluble vitamins in view of obstructive jaundice
and if no reduction of Bili happen to do cholecystectomy.
Pyruvate kinase deficiency (PKD) is the 2nd most common enzyme-related glycolytic defect
that results in pigment gall stones .At least 30% of patients develop cholelithiasis. Pyruvate
kinase deficiency diagnosis was made detecting the mutation in PKLR gene genetic
testing. Family members screened and all were having low pyruvate kinase levels. Here in
this scenario child had cholelithiasis after 3 years of splenectomy. Child was on hydroxyurea
and was compliant to medications. Chance of recurrence is high even with medications.
Drug used in cholelithiasis is ursodexycholicacid ,which suppresses hepatic secretion and
inhibits intestinal absorption of cholesterol.
Carry home message : If a patient with hemolytic anemia presents with abdominal pain and
direct hyperbilirubinemia always think of choledocholithiasis.

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