Magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) complicated by cerebral anomalies were analysed from data collected at several Departments of Child Neurology, The Netherlands: Free University Hospital, and Emma Children’s Hospital, Amsterdam; Sophia Children’s Hospital, Rotterdam; Leiden University Hospital; Groningen University Hospital; and St Radboud University Hospital, Nijmegen. Four subgroups of CMD were defined by MRI characteristics: Grp 1, Walker-Warburg syndrome (WWS) (5 cases), CMD with retardation, macrocephaly, hydrocephalus, and eye abnormalities, showed posterior fossa abnormalities, aqueductal stenosis, polymicrogyria, and cerebral white matter demyelination on MRI; Grp 2, less severe form of muscle-eye-brain disease than WWS (4 patients), with normal or only focal white matter changes, less severe cerebral cortical dysplasia, frequent myopia, and similar posterior fossa abnormalities; Grp 3, CMD with isolated occipital agyria (3 patients), normal intelligence, no eye abnormalities, white matter changes, and hypoplasia of pons and vermis; and Grp 4, classic merosin-deficient CMD (MD-CMD) (8 patients), with diffuse cerebral white matter abnormalities only. [1]

COMMENT. The MRI is important in the classification of patients with congenital muscular dystrophy, both in terms of prognosis and in genetic studies. Four subgroups may be defined: Walker-Warburg syndrome, muscle-eye-brain disease, merosin-deficient CMD, including the classic form and that of Fukuyama, and a newly recognized subtype with occipital agyria.