Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil

Introduction We present herein clinical, histological and magnetic resonance imaging (MRI) findings in a patient with Fukuyama-type congenital muscular dystrophy ( FCMD). He is the first case report in the Japanese population living in Brazil. Case report the child presented with neonatal hypotonia, delayed motor abilities and speech, seizures, cerebral and cerebellar gyrus abnormalities with signal intensity change in the white matter by MRI, high serum level of creatinephosphokinase (CK), and dystrophic skeletal muscle with normal merosin, alpha-sarcoglycan and dystrophin expression. the fukutin gene study showed one founder 3-kb retrotransposal insertion in the 3'-non-coding region, and in the other allele no mutation was detected after screening all exons and flanking introns by sequencing. Discussion - This case report emphasizes the importance to consider FCMD in Japanese people living in other countries.Universidade Federal de São Paulo, Escola Paulista Med, Dept Neurol, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Ctr Genet Med, São Paulo, BrazilOtsuka Pharmaceut Co Ltd, Otsuka Life Sci Initiat, Otsuka Assay Labs, Gene Anal Ctr, Tokushima 77101, JapanOsaka Univ, Grad Sch Med, Dept Postgenom & Dis, Div Funct Genom, Osaka, JapanUniversidade Federal de São Paulo, Escola Paulista Med, Dept Neurol, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Ctr Genet Med, São Paulo, BrazilWeb of Scienc