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Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report
Muna Khanal1, Adarsh Kumar Jha1, Arun Kumar Sharma2
1Nepal Medical College and Teaching Hospital, Jorpati, Kathmandu, Nepal.
Insights
Infantile cholestasis, often caused by biliary atresia, can also stem from genetic disorders like Myosin 5B gene mutations. This case highlights an unusual cause of severe infantile cholestasis presenting with pruritus.
Area of Science:
- Hepatology
- Genetics
- Pediatrics
Background:
- Infantile cholestasis necessitates prompt etiological evaluation for effective management.
- Biliary atresia is a primary concern, but genetic disorders are increasingly recognized.
- Progressive familial intrahepatic cholestasis (PFIC) encompasses defects in biliary canalicular transport.
Observation:
- A novel disorder involves Myosin 5B gene mutations, causing a PFIC-like phenotype, potentially with intestinal microvillus inclusion disease.
- The incidence of these Myosin 5B-related disorders is largely unknown due to limited research.
- This study details a rare case of refractory infantile cholestasis in a girl with severe pruritus as the main symptom.
Findings:
- The patient presented with severe pruritus, indicating a significant manifestation of cholestasis.
- Myosin 5B gene mutations were identified as the underlying cause of the cholestasis.
- This case expands the known spectrum of genetic causes for infantile cholestasis.
Implications:
- Early genetic testing is crucial for diagnosing rare monogenic causes of infantile cholestasis.
- Understanding Myosin 5B-related disorders can improve diagnostic approaches and patient management.
- Further research is needed to determine the incidence and long-term outcomes of these genetic cholestatic conditions.
Abstract:
Infantile cholestasis is a common clinical problem in early infancy characterised by impairment in bile formation and/or flow. It requires prompt evaluation for underlying aetiology to initiate appropriate management. Although biliary atresia remains the most important aetiology, metabolic and monogenic disorders are increasingly identified with advances in diagnostic genetic testing. Progressive familial intrahepatic cholestasis disorders characterised by defects in biliary canalicular transport are among the most common monogenic disorders of cholestasis. Homozygous or compound heterozygous mutation in the Myosin 5B gene leading to a progressive familial intrahepatic cholestasis-like phenotype with or without intestinal features of microvillus inclusion disease is a relatively recently identified disorder. The incidence of these newer variants of progressive familial intrahepatic cholestasis is not yet known due to the paucity of studies. We report an uncommon cause of refractory cholestasis reported in a girl who presented with severe pruritus as the primary manifestation.
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