DIVERGENCE OF CENTRAL-NERVOUS-SYSTEM INVOLVEMENT IN 2 ITALIAN SISTERSWITH CONGENITAL MUSCULAR-DYSTROPHY - A CLINICAL AND NEURORADIOLOGICALFOLLOW-UP

We report the clinical and neuroradiological follow-up of 2 Italian si sters, 10 and 6 years of age, affected by congenital muscular dystroph y (CMD) with divergent CNS involvement. In both, CMD was diagnosed by finding dystrophic alterations in muscle biopsy and muscular deficit a t birth. The elder sister suffered also from marked intellectual defic it and epilepsy, as usually reported in children with Fukuyama CMD. In the same patient, at 2 years of age, CT scan showed severe hypodensit y of cerebral white matter and severe ventricular dilatation of occipi tal horns. At 8 years of age, MRI also showed clearcut pachygyria main ly in the parietal and occipital lobes. MRI and CT scan at the same ag e showed improvement of the leukoencephalopathy and unchanged ventricu lar dilatation, as reported for patients with Fukuyama CMD. Unlike Jap anese cases, however, she showed no progression in her muscular defici t and her muscle immunostaining of laminin M chain (merosin) was norma l. The younger sister had normal mental development, never experienced epileptic fits and had always normal EEG. However, as often seen in c lassical CMD, her CT scan showed moderate hypomyelination of cerebral white matter and mild dilatation of lateral ventricles. MRI did not sh ow any other brain abnormalities. Sequential CT scan at 2, 4 and 6 yea rs of age showed improve ment of the leukoencephalopathy. Her muscular deficit had a stationary clinical course. Her immunostaining of muscl e merosin was moderately reduced. The finding of Fukuyama-like and cla ssical CMD in 2 sisters indicates the possibility that different forms of CMD may be different expressions of the same genetic disease.