Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case.

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 <i>STIM1</i>, <i>ORAI1, CASQ1</i> 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.