Akademik Veri Yönetim Sistemi
18th International Child Neurology Congress, Cape-Town, Güney Afrika, 6 - 10 Mayıs 2024, ss.1
Introduction: Anoctamine 5 (ANO5) muscle disorders are a clinically heterogeneous group of disorders caused by mutations in ANO5, with adult onset but extremely rare in the pediatric population. These disorders has four phenotypes: limb-girdle muscular dystrophy type R12, Miyoshi distal myopathy type 3, asymptomatic hyperCKemia, and pseudometabolic phenotype. We aimed to present an asymptomatic case with a homozygous pathogenic mutation in ANO5 gene in the etiology of transaminase elevation. Case report: An eight-year-old girl was evaluated by the pediatric gastroenterology department because of minimal transaminase elevation seen during routine check-up and was consulted to our department after creatine kinase (CK) elevation was detected. She was born after an uneventful pregnancy and delivery to second degree consanguineous parents. She had no clinical complaints and her developmental milestones were compatible with her age. Her physical and neurological examinations were normal. Gastroenterologic and metabolic examinations revealed no pathologic findings suggestive of any specific disease. Electroneuromyographic and echocardiographic evaluations were normal. The MLPA analysis of the duchenne muscular dystrophy (DMD) gene was normal. A homozygous splice donor mutation (c.1898+1G>A) in the ANO5 gene was detected in the neuromuscular diseases gene panel and the patient was diagnosed with the asymptomatic hyperCKemia phenotype of ANO5 muscle diseases. Conclusion: Neuromuscular disorders are a group of diseases with an extremely broad phenotypic spectrum. Even in asymptomatic cases, in the presence of persistently elevated serum transaminase and creatine kinase levels, neuromuscular disorders should be kept in mind in etiological investigations.