Brain magnetic resonance imaging (MRI) findings in 13 patients with congenital muscular dystrophy (MDCIC) and Fukutin-related protein (FKRP) gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers. MRIs were obtained between 22 months and 11 years of age. Five patients had normal MRIs and normal cognitive abilities. Three had cerebellar cysts and cognitive impairment (IQ 50, 56, and 70); 1 was microcephalic. Five had cerebellar cysts associated with other structural abnormalities, including nodular heterotopia, frontal pachygyria, pontine hypoplasia, microcephaly, lissencephaly, Dandy-Walkerlike malformation, and absence of cerebellar vermis. One patient had Walker-Warburg syndrome (WWS) with involvement of muscle, eye and brain. The severity of CNS involvement reflected the severity of disruption of a-dystroglycan glycosylation (DGG). DGG was almost absent in the patient with WWS and less severely reduced in patients with MDCIC with or without cerebellar cysts. [1]

COMMENT. Only 5 of 13 patients with congenital muscular dystrophy and FKRP gene mutations had normal brain MRIs and normal IQs. Eight patients had structural brain anomalies consisting of cerebellar cysts with or without other structural changes and cognitive deficits of various degrees of severity. Cerebellar cysts, either alone or associated with vermis hypoplasia and white matter abnormalities, were the most common MRI findings with FKRP mutations and MDCIC. The degree of abnormal glycosylation of adystroglycan correlates with disease severity, MDCIC having a more severe depletion compared with later onset limb girdle MD. Congenital MDs are called dystroglycanopathies and include Fukuyama CMD, muscle-eye-brain disease, and Walker-Warburg syndrome.