Abstract
We experienced an infant with congenital myotonic dystrophy (CMyD) who was found to have cerebral white matter lesions in the MRI. Based on the analysis of the clinical course and findings in four autopsy cases of CMyD children, the mechanisms of the formation of the cerebral white matter lesions were discussed. The subject was a 3 year-old boy with a family history of myotonic dystrophy (DM). Hydramnion during the perinatal stage, episodes of respiratory disturbance, myopathic facial appearance, hypotonia and psychomotor retardation were found. According to the MRI, enlargement of the postrior horn of the lateral ventricle and multifocal high signal lesions in the periventricular white matter were observed, which resembled periventricular leukomalacia (PVL). In the neuropathological findings of the four CMyD autopsy cases, all cases were found to have leukomalacia including old malacia focus. Because many CMyD cases have respiratory disturbance during the neonatal stage, PVL may be attributed to perinatal hypoxic barin damage in CMyD patients. However, white matter lesions are also reported in adult-onset DM cases. Therefore, although cerebral hypoperfusion during the perinatal stage can be the main causal factor for PVL in CMyD, it raises the possibility that myotonic dystrophy protein kinase gene abnormality is the predisposing cause of leukomalacia. Further studies are needed to test this possibility.
