Abstract

Tubular aggregate myopathy is a rare neuromuscular condition associated with the presence of myofibers protein accumulations, in the form of dense tubular aggregates. Clinically it is characterized by proximal muscular weakness, exercise-induced cramps, myalgias, and ocular features such as ophthalmoplegia and pupillary abnormalities. The involvement of the central nervous system is rare and not completely elucidated. Variants in STIM1, ORAI1, CASQ1 genes are frequently associated with tubular aggregate myopathy. Here we describe a 35-year-old man who presented neonatal hypotonia, motor delay, seizures, and sensorineural hearing loss. During a SARS-CoV-2 infection at the age of 35, he developed myoclonus, encephalopathy, and marked muscular weakness. A deltoid muscle biopsy revealed the presence of tubular aggregates. Genetic analyses including a Whole Genome sequencing failed to reveal a genetic cause. In conclusion, we enlarge the clinical spectrum of tubular aggregate myopathy associated with central nervous system involvement.

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Guillaume Baille - Neurology department, Fondation Rothschild, Paris

Gianmarco Severa - Université Paris Est, IMRB, INSERM, APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Filnemus, Henri Mondor Hospital, France; 3 Institut Mondor de Recherche Biomédicale, Université Paris Est Créteil, Institut National de la Santé et de la Recherche médicale Université, Créteil, France

Camille Verebi - Service de Médecine Génomique des Maladies de Système et d’Organe, Fédération de Génétique et de Médecine Génomique, APHP, Centre - Université Paris Cité, Hôpital Cochin, Paris, France

Robert-Yves Carlier - APHP, Université UVSQ-Paris Saclay, Hôpital Raymond Poincaré, Service de Radiologie, Garches, France

Edoardo Malfatti -  Université Paris Est, IMRB, INSERM, APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Filnemus, Henri Mondor Hospital, France; Institut Mondor de Recherche Biomédicale, Université Paris Est Créteil, Institut National de la Santé et de la Recherche médicale Université, Créteil, France

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Copyright (c) 2024 Acta Myologica

How to Cite
Baille, G., Severa, G., Verebi, C., Carlier, R.-Y., & Malfatti, E. (2024). Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case. Acta Myologica, 43(4). Retrieved from https://www.actamyologica.it/article/view/675
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