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
