This Article Full Text (PDF) All Versions of this Article: 0883073808314965v1 23/8/930    most recent References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Cerghet, M. Articles by Mahbubul Huq, A. H. M. Search for Related Content PubMed PubMed Citation Articles by Cerghet, M. Articles by Mahbubul Huq, A. H. M. Social Bookmarking                         What's this?

Homozygous Myotonic Dystrophy With Craniosynostosis

departments of Pediatrics, Wayne State University, Department of Neurology, Wayne State University, Detroit, Michigan, Department of Neurology, Henry Ford Hospital, Detroit, Michigan

Daniela Tapos, MD

departments of Pediatrics, Wayne State University, Department of Neurology, Wayne State University, Detroit, Michigan

Fatema J. Serajee, MD

departments of Pediatrics, Wayne State University, Department of Neurology, Wayne State University, Detroit, Michigan

A. H. M. Mahbubul Huq, MD, PhD

departments of Pediatrics, Wayne State University, Department of Neurology, Wayne State University, Detroit, Michigan, ahuq{at}med.wayne.edu

Myotonic dystrophy is considered a true dominant condition with no difference in the phenotype between heterozygous and homozygous cases. The homozygous state is very rare and only a few patients have been reported in the literature. We report a 2.5-year-old boy from a nonconsanguineous marriage, with a unique combination of clinical and radiological findings: hypotonia, motor and language developmental delay, ventriculomegaly, subcortical white matter lesions, and craniosynostosis. Mutation analysis revealed 2 copies of expansion mutation of 1260 and 60 cytosine-thymine-guanine repeats in the myotonic dystrophy protein kinase gene. Both the mildly symptomatic (434 repeats) mother and the asymptomatic (37 repeats) father are heterozygous. Craniosynostosis has not been reported previously in myotonic dystrophy. This homozygous case expands the clinical spectrum of myotonic dystrophy type 1 and provides support to the hypothesis that myotonic dystrophy type 1 pathophysiology could be, in part, due to the loss of normal function of the wild-type protein.

Key Words: myotonic dystrophy • dominance • homozygous

This version was published on August 1, 2008

Journal of Child Neurology, Vol. 23, No. 8, 930-933 (2008)
DOI: 10.1177/0883073808314965


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?