Case presentation, case diagnosed in Sri lanka when I was a Senior Registrat

Background:

Progressive Familial Intrahepatic Cholestasis Type 10 (PFIC10) is a rare autosomal recessive cholestatic liver disease caused by mutations in the MYO5B gene (Gonzales et al., 2014; Liu et al., 2023), which encodes myosin Vb, a motor protein essential for apical membrane trafficking (Wang, 2021) in hepatocytes. It typically presents in infancy with cholestasis, low or normal gamma-glutamyl transferase (GGT), pruritus, and progression to cirrhosis (Sogo, Komatsu and Inui, 2021). Early diagnosis is crucial for optimizing management and delaying disease progression.

Case Presentation:

An 11-month-old female presented with a 3-month history of progressive jaundice, persistent pruritus, and growth failure. Anthropometric parameters were significantly below age standards. Clinical examination revealed icterus, hepatomegaly, and generalized excoriations. Laboratory findings showed direct hyperbilirubinemia, elevated transaminases and alkaline phosphatase, normal GGT, and prolonged activated partial thromboplastin time (APTT). Imaging revealed hepatomegaly and a 7 mm gallbladder neck calculus without biliary dilation. Liver biopsy demonstrated evolving cirrhosis (Batts-Ludwig stage 2–3) with intracytoplasmic cholestasis and no lobular inflammation. Whole exome sequencing confirmed a diagnosis of PFIC10 through pathogenic MYO5B mutations (Clayton, 2012).

Management and Outcome:

The patient was commenced on ursodeoxycholic acid and high-dose fat-soluble vitamin supplementation. Nutritional rehabilitation was implemented alongside regular monitoring of liver function, growth parameters, and imaging. Genetic counseling was offered to the family.

Conclusion:

This case illustrates the importance of considering PFIC10 in infants presenting with cholestasis, normal GGT, and early hepatic fibrosis. Timely genetic confirmation enables tailored medical management and appropriate family counseling, potentially improving long-term outcomes.

To be updated shortly..