J Pediatr Neurol 2006; 04(04): 261-264
DOI: 10.1055/s-0035-1557340
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Magnetic resonance imaging and spectroscopy in Fukuyama-type congenital muscular dystrophy

Zenichiro Kato
a  Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan
b  Center for Emerging Infectious Diseases (CEID), Gifu University, Gifu, Japan
c  Center for Advanced Drug Research (CADR), Gifu University, Gifu, Japan
d  Molecular and Cellular Biology, Harvard University, Cambridge, MA, USA
,
Kayoko Saito
e  Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan
,
Koji Isogai
a  Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan
,
Naomi Kondo
a  Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan
b  Center for Emerging Infectious Diseases (CEID), Gifu University, Gifu, Japan
c  Center for Advanced Drug Research (CADR), Gifu University, Gifu, Japan
› Author Affiliations

Subject Editor:
Further Information

Publication History

24 January 2006

18 June 2006

Publication Date:
30 July 2015 (online)

Abstract

Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by congenital muscular dystrophy and associated with neuropathological anomalies such as polymicrogyria and pachygria. Cerebral abnormalities in FCMD have been well documented by neuropathological examinations and cranial imaging studies. However, the pathologic mechanism of white matter lesions remains controversial. In the present study, magnetic resonance imaging (MRI) of a 7-month-old boy with FCMD showed the previously reviewed characteristic morphological features such as thick cortices with shallow sulci corresponding to polymicrogyria involving the frontal lobe. MRI also showed markedly prolonged T1 and T2 signals in the white matter, while diffusion-weighted images showed no abnormalities. The results of magnetic resonance spectroscopy showed an increase in choline and N-acetylaspartate resonances but normal myo-inositol resonance. The simulation of these findings with those of merosin-negative congenital muscular dystrophy should suggest a further study with larger population using a combination of different imaging techniques.