P2.20 Fukuyama congenital muscle dystrophy: A rare mutation

Abstract

The dystroglycanopathies comprise a clinically and genetically heterogeneous group of muscular dystrophies characterized by deficient glycosylation of alpha-dystroglycan. Mutations in the fukutin (FKTN) gene have primarily been identified among patients with classic Fukuyama congenital muscular dystrophy (FCMD), a severe form of dystroglycanopathy. Young girl 30 months old with moderate limb-girdle muscle weakness and history of congenital hip dislocation, from a non consanguineous family, without history of muscle disease. She never achieved independent walk, and clinical examination revealed a predominance of scapular weakness, a myopathic face and a severe mental retardation. Cardiac and ophthalmological evaluations were normal. Investigation performed showed creatine kinase 6777 IU/L; muscle histopathology and immunofluorescence suggestive of an a-dystroglycan glycosylation abnormality. MRI showed cerebellar cists, leukodystrophy and cortical dysplasia (polymicrogyria). POMGnT1 was negative. Fukutine gene was performed and revealed a rare mutation, not previously reported, which was confirmed in muscle and in parents ADN. In this report the diagnosis suspicion was based on MRI achievements, which showed in one child all the mainly image phenotypes described in FCMD.