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Congenital Muscular Dystrophy, White-Matter Abnormalities, and Neuronal Migration Disorders: The Expanding Concept

Department of Neurology, Royal Children's Hospital

Andrew J. Kornberg, MB, BS (Hons), FRACP

Department of Neurology, Royal Children's Hospital, Department of Paediatrics, University of Melbourne

Lloyd Shield, MB, BS, FRACP

Department of Neurology, Royal Children's Hospital

Ethna Phelan, MB, BCh, FRCR

Department of Radiology, Royal Children's Hospital

Michael J. Kean, Dip Appl Sci, Grad Dip Educ

Department of Radiology, Royal Children's Hospital

Lee T. Coleman, MB, ChB, FRACR

Department of Radiology, Royal Children's Hospital

Xenia Dennett, BS, PhD

State Neuropathology Service, University of Melbourne Parkville, Victoria, Australia

The congenital muscular dystrophies are a heterogeneous, recessively inherited group of disorders that have been subclassified on the basis of clinical central nervous system involvement. We report two children with "pure" congenital muscular dystrophy, one merosin negative and one merosin positive with extensive white matter and occipital cortical neuromigration abnormalities on magnetic resonance imaging (MRI). The first patient (merosin-negative congenital muscular dystrophy) presented with hypotonia and weakness in the neonatal period and subsequently was found to have a leukoencephalopathy and occipital cortical dysplasia on magnetic resonance imaging. The second patient presented with developmental delay without definite weakness. Initial investigations revealed a leukoencephalopathy and cortical dysplasia, but the patient subsequently was shown to have merosin-positive congenital muscular dystrophy. These patients illustrate that white-matter changes are not specific for merosin-negative congenital muscular dystrophy alone and that extensive cortical abnormality can be found in both groups of patients. In addition, our second patient illustrates a non-muscular mode of congenital muscular dystrophy presentation that should be considered in patients with a "nonprogressive leukodystrophy." (J ChiLd Neurol 1998;13:481-487).

Journal of Child Neurology, Vol. 13, No. 10, 481-487 (1998)
DOI: 10.1177/088307389801301003


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