DOI: https://doi.org/10.36347/sjmcr.2025.v13i12.024

Pages: 2990-2991

Megaconial congenital muscular dystrophy (MCM) is a rare autosomal recessive mitochondrial myopathy caused by mutations in the CHKB gene, affecting lipid metabolism and mitochondrial function. It is characterized by enlarged mitochondria at the periphery of muscle fibers (“megaconia”). Clinical features include early-onset hypotonia, progressive muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Some patients may present congenital heart defects, autistic traits, or ichthyosiform skin lesions. Diagnosis relies on elevated serum CK, electromyography showing a myogenic pattern, muscle biopsy revealing megaconia, and genetic confirmation of CHKB mutations. Management is multidisciplinary, involving physiotherapy, orthotic support, respiratory care, and symptomatic treatment. We report a 10-year-old child with MCM. Due to its multisystem involvement and broad clinical spectrum, differential diagnosis includes other neurometabolic and mitochondrial disorders. Prognosis depends on symptom severity and progression, particularly regarding cardiac and respiratory function.