Ten infants with congenital myotonic dystrophy admitted to the Dept Pediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, 1982-86, were investigated by ultrasonography or CT brain scans between 1 day and 2 months of age. The infants presented with generalized hypotonia, facial diplegia, and respiratory and feeding difficulties, and the diagnosis was confirmed by demonstrating maternal myotonia.

Cerebral ventricular dilation was demonstrated in 8 (80%) infants, and 3 were scanned on the first day of life. Neonatal asphyia occurred in 7, associated with intraventricular hemorrhage (IVH) in 2. One had subarachnoid hemorrhage and one showed infarcts in the white matter. The pathogenesis of ventricular dilation in congenital myotonic dystrophy was probably IVH in 2, but a developmental anomaly during fetal life was the more likely explanation in the remainder. The authors note that mental retardation in 70% of cases can be related to the ventricular dilation which may be progressive and require surgical treatment. [1]