The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy

We report a male autopsy case of Fukuyama-type congenital muscular dystroph y (FCMD), with unusual neuropathological findings. The patient was a Japane se man aged 26 years at the time of death. He had shown severe psychomotor retardation and muscular dystrophy since early infancy, and was diagnosed a s having FCMD at the age of 5 years. He died of respiratory failure. The ma in neuropathological finding was extensive cerebral and cerebellar cortical dysplasia, characteristic of this disorder. In addition, degeneration of t he cerebellar efferent pathway, including the dentate nucleus, superior cer ebellar peduncle, and red nucleus, and that of the lateral thalamic nucleus were observed. These findings suggest the possibility that the long surviv al can clarify the latent neurodegeneration in the cerebellum and thalamus in FCMD, in addition to congenital malformations. The system degeneration s hould be carefully evaluated in the pathological examination of this disord er.