JPGN Reports · 4 authors, 3 centres
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A case report of a newborn with congenital myotonic dystrophy who developed progressive cholestatic liver disease in early infancy, attributed to combined heterozygous ATP8B1 and ABCB4 mutations alongside intestinal failure-associated liver disease, and who underwent successful liver transplantation at age 4 years 9 months with good long-term outcome.
This case report describes a newborn delivered at 34 weeks gestation with congenital myotonic dystrophy confirmed by DMPK gene expansion, who developed conjugated hyperbilirubinemia at 2 months of age despite no identifiable infectious, metabolic, or endocrine causes. Genetic testing revealed heterozygous mutations in ATP8B1 (2855G>A[p.R952Q]) and ABCB4 (1954A>G[R652G]), associated with PFIC type-1 and type-3 respectively. Despite achieving enteral autonomy at 6 months, liver dysfunction progressed with serum bilirubin peaking at 471 µmol/L, and the child developed decompensated liver disease requiring liver transplantation at 4 years 9 months. Post-transplant recovery was uneventful with no anesthetic complications, and at 7 years post-transplant the patient had normal allograft function. The authors propose the liver disease resulted from cumulative injury from congenital myotonic dystrophy predisposition, dual heterozygous PFIC gene mutations, and intestinal failure-associated liver disease.
