Affiliations: Department of Pediatrics, Graduate School of Medicine,
Gifu University, Gifu, Japan | Center for Emerging Infectious Diseases (CEID), Gifu
University, Gifu, Japan | Center for Advanced Drug Research (CADR), Gifu
University, Gifu, Japan | Molecular and Cellular Biology, Harvard University,
Cambridge, MA, USA | Institute of Medical Genetics, Tokyo Women's Medical
University, Tokyo, Japan
Note: [] Correspondence: Zenichiro Kato, MD, Department of Pediatrics,
Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194,
Japan. Tel.: +81 58 230 6386; Fax: +81 58 230 6387; E-mail:
[email protected]
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.
Keywords: Fukuyama-type congenital muscular dystrophy, magnetic resonance imaging, spectroscopy
