Low Gamma-Glutamyl Transferase Cholestasis in a Patient With X-Linked Myotubular Myopathy and Crohn's Disease
Rasha Abi Radi Abou Jaoudeh,
Brendan McCleary,
Kadakkal Radhakrishnan
Abstract:X-linked myotubular myopathy (XLMTM) is a neuromuscular disorder manifesting at birth with hypotonia and respiratory distress. We describe the XLMTM case presenting at birth who developed normal gamma-glutamyl transferase cholestasis at 1 year of age. He was also diagnosed with Crohn's disease 4 years later. His cholestasis could be attributed to progressive familial intrahepatic cholestasis (PFIC) or primary sclerosing cholangitis in the setting of Crohn's disease. However, genetic testing ruled-out PFIC, and… Show more
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