Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil.
Acta Neurol Scand
; 106(2): 117-21, 2002 Aug.
Article
em En
| MEDLINE
| ID: mdl-12100373
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofias Musculares
Limite:
Child, preschool
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Asia
/
Brasil
Idioma:
En
Revista:
Acta Neurol Scand
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Brasil