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Journal of Child Neurology
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Multicore Myopathy, Microcephaly, Aganglionosis, and Short Stature

James J. Kim, MD

Department of Neurology The Children's Medical Center, Dayton, OH

Dawna D. Armstrong, MD

Department of Pathology, Texas Children's Hospital and Baylor College of Medicine, Houston, TX

Marvin A. Fishman, MD

Departments of Neurology, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, Department of Pediatrics Texas Children's Hospital and Baylor College of Medicine, Houston, TX

Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development. We report an unusual case of multicore myopathy with an expanded clinical syndrome involving the central nervous system, as well as additional congenital malformations. Clinical manifestations included microcephaly, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism. (J Child Neurol 1994;9:275-277).

Journal of Child Neurology, Vol. 9, No. 3, 275-277 (1994)
DOI: 10.1177/088307389400900309
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