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Mental Retardation and Early Onset of Weakness in a Girl With a Dystrophinopathy and a Large Xp21-23 Deletion

Department of Pediatrics and Pediatric Neurology Azienda Policlinico University of Catania Catania, Italy

Giusi Romeo

Department of Pediatrics and Pediatric Neurology Azienda Policlinico University of Catania Catania, Italy

Anna Sorge

Department of Pediatrics and Pediatric Neurology Azienda Policlinico University of Catania Catania, Italy

Rio Bianchini

Department of Pediatrics and Pediatric Neurology Azienda Policlinico University of Catania Catania, Italy

Angelo DiGiorgio

Department of Pediatrics and Pediatric Neurology Azienda Policlinico University of Catania Catania, Italy

Tatiana Trigilia

Department of Pediatrics and Pediatric Neurology Azienda Policlinico University of Catania Catania, Italy

Teresa Mattina

Department of Pediatrics and Pediatric Neurology Azienda Policlinico University of Catania Catania, Italy

Anne M. Connolly

Department of Neurology and Pediatrics St. Louis Children's Hospital Washington School of Medicine St. Louis, Missouri connolly{at}kids.wustl.edu

A 2-year-old girl presented with severe global developmental delay, weakness, and an elevated serum creatine kinase level. Her muscle biopsy was consistent with an active dystrophy with absence of dystrophin in about half of the muscle fibers. Fluorescent in situ hybridization analysis showed her karyotype to be 46, X, del X p23.1-p21.1. This large deletion includes the dystrophin gene as well as the region involved in X-linked mental retardation. The genetic mechanism for the manifestation of both diseases is likely non-random inactivation of the X chromosome. To our knowledge, the combination of this dystrophinopathy in association with severe mental retardation has not been described in a girl. (J Child Neurol 2003; 18: 79—81).

Journal of Child Neurology, Vol. 18, No. 1, 79-81 (2003)
DOI: 10.1177/08830738030180012001


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