An insight to Fukuyama congenital muscular dystrophy (FCMD): Report of a rare case

Le résumé fourni par la source

Fukuyama congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder that primarily affects the muscles and the brain. It is caused by mutations in the Fukutin-related protein (FKRP) gene. Radiological imaging is very characteristic and plays an essential role in the diagnosis and evaluation of FCMD. FCMD can also involve other organs and systems, so additional imaging studies may be warranted based on clinical symptoms and suspicions. The case presentation is about 6 months old developmentally delayed infant complaining of generalized muscle weakness and feeding problems. MRI brain showed classic findings of patchy white matter signal abnormalities in bilateral periventricular region and centrum semiovale, marked pontine hypoplasia,fused midbrain colliculi, extensive frontoparietal and cerebellar cortical dysplasia with multiple small cysts in the lateral cerebellum and vermis adjacent to the dysplastic cerebellar cortex. It's important to note that the radiological findings in FCMD can vary from person to person, and the diagnosis is usually confirmed through a combination of clinical evaluation, molecular analysis and imaging studies. Clinico-lab correlation with radiological findings is crucial for proper evaluation and management.

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