“Aims: we report a rare case of a patient with a Neuroacanthocytosis-associated mutation in the VPS13A gene.
Materials and Methods: biochemical tests, brain and muscle MRI, electrodiagnostic testing, muscle biopsy, and next-generation sequencing (NGS).
Results: a 28-year-old man with a history of isolated but relevant increased CPK since age 12 (>2000 U/I) with normal value of transaminases. Normal milestones, no neurological impairment and no family history of neuromuscular diseases was reported. Muscle biopsy at 18 revealed non-specific myopathic changes,as variation in fiber size and some nuclear centralizations with slight increase in connective tissue. So we decided to perform an NGS panel for myopathies, which did not detect significant variations. His medical history and his neurological evaluation remained normal up to the age of 27 years when, following a fever episode, he experienced two generalized tonic-clonic seizures and rhabdomyolysis. EEG showed epileptiform abnormalities, while the brain MRI was normal. Considering the association of central nervus system impairment we decided to perform an analysis of the exome which highlighted an heterozygous mutation of VPS13A (c.799C > T; p.R267X) associated with neuroacanthocytosis.
Conclusion: Isolated hyperCKemia is often a diagnostic challenge for neuromuscular experts, with a non-negligible percentage remaining without a molecular diagnosis. In this context, it’s important to also consider some rare conditions not commonly classified among myopathies, such as neuroacanthocytosis. Our case demonstrates the possibility of having isolated hyperCKemia for many years without signs of CNS involvement, and it might be appropriate to include this VPS13A gene in NGS panels for myopathies.”