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Molera C, Sarishvili T, Nascimento A, et al. 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):73-82doi: 10.3233/JND-210712.
Molera, C., Sarishvili, T., Nascimento, A., Rtskhiladze, I., Muñoz Bartolo, G., Fernández Cebrián, S., Valverde Fernández, J., Muñoz Cabello, B., Graham, R. J., Miller, W., Sepulveda, B., Kamath, B. M., Meng, H., & Lawlor, M. W. (2022). Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report. Journal of neuromuscular diseases, 9(1), 73-82. https://doi.org/10.3233/JND-210712
Molera, Cristina, et al. "Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report." Journal of neuromuscular diseases vol. 9,1 (2022): 73-82. doi: https://doi.org/10.3233/JND-210712
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 MW. 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. doi: 10.3233/JND-210712. PMID: 34366366.
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J Neuromuscul Dis. 2022;9(1):73-82. doi: 10.3233/JND-210712.

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.

Journal of neuromuscular diseases

Cristina Molera, Tinatin Sarishvili, Andrés Nascimento, Irakli Rtskhiladze, Gema Muñoz Bartolo, Santiago Fernández Cebrián, Justo Valverde Fernández, Beatriz Muñoz Cabello, Robert J Graham, Weston Miller, Bryan Sepulveda, Binita M Kamath, Hui Meng, Michael W Lawlor

Affiliations

  1. Pediatric Gastroenterology, Hepatology and Nutrition Department, Hospital Sant Joan de Déu, Universidad de Barcelona, España.
  2. Pediatric Department, Medical Center Mrcheveli, Tbilisi, Georgia.
  3. Unidadde Patología Neuromuscular, Servicio de Neurología Pediátrica, Hospital Sant Joan de Déu, Universidad de Barcelona, CIBERER, España.
  4. Department of Pediatric Hepatology, Hospital Universitario La Paz, Madrid, España.
  5. Sección de Gastroenterología, Hepatología y Nutrición Pediátrica. Departamento de Pediatría. Complexo Hospitalario Universitario de Ourense, España.
  6. Sección de Gastroenterología, Hepatología y Nutrición Pediátrica UGC Pediatría. Hospital Infantil Virgen del Rocio, Sevilla, España.
  7. Sección de Neuropediatría, Hospital Infantil Virgen del Rocío, Sevilla, España.
  8. Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  9. Astellas Gene Therapies, San Francisco, CA, USA.
  10. The Hospital for Sick Children and University of Toronto, Toronto, Canada.
  11. Department of Pathology and Laboratory Medicine and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, WI, USA.

PMID: 34366366 DOI: 10.3233/JND-210712

Abstract

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.

Keywords: X-linked myotubular myopathy; hepatobiliary disease; intrahepatic cholestasis; liver abnormalities; myotubularin

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