Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report. J Neuromuscul Dis 2022;9(1):73-82
Date
08/10/2021Pubmed ID
34366366Pubmed Central ID
PMC8842755DOI
10.3233/JND-210712Scopus ID
2-s2.0-85122787622 (requires institutional sign-in at Scopus site) 16 CitationsAbstract
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be associated with life-threatening hepatic peliosis. Hepatobiliary disease has been reported in up to 17% of XLMTM patients but has not been extensively characterized. We report on five XLMTM patients who experienced intrahepatic cholestasis in their disease natural history, illustrating the need to further investigate these manifestations. These patients shared presentations that included pruritus, hypertransaminemia, and hyperbilirubinemia with normal gamma-glutamyl transferase, following infection or vaccination. Three patients who had genetic testing showed no evidence of genetic mutations associated with familial cholestasis. In one patient, progression to cirrhotic, decompensated liver disease occurred. Further investigations into the molecular pathomechanism underpinning these clinical observations in XLMTM patients will be important for informing patient care.
Author List
Molera C, Sarishvili T, Nascimento A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H, Lawlor MWAuthor
Michael W. Lawlor MD, PhD Adjunct Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
BiopsyCholestasis, Intrahepatic
Fatal Outcome
Humans
Infant
Male
Myopathies, Structural, Congenital
