This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal 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 Google Scholar Articles by Habeeb, Y. K. R. Articles by Moosa, A. Search for Related Content PubMed PubMed Citation Articles by Habeeb, Y. K. R. Articles by Moosa, A. Social Bookmarking                   What's this?

Congenital Muscular Dystrophy in Arab Children

Neurology Unit Department of Pediatrics, Mubarak Al-Kabeer Hospital, Kuwait, yhabeeb{at}kma.org.kw

Maliha A. Al-Bloushi, MD

Neurology Unit Department of Pediatrics, Mubarak Al-Kabeer Hospital, Kuwait

Eman S. Al-Jumah, MD

Neurology Unit Department of Pediatrics, Mubarak Al-Kabeer Hospital, Kuwait

Thomas M. De Souza, MSc

Department of Pediatrics Faculty of Medicine, Kuwait University, Kuwait

Allie Moosa, MD

Neurology Unit, Department of Pediatrics, Mubarak Al-Kabeer Hospital, Kuwait, Department of Pediatrics Faculty of Medicine, Kuwait University, Kuwait

The congenital muscular dystrophies are autosomal recessive disorders with different clinical phenotypes, the spectrum of which varies between different ethnic communities. We report our findings in 21 Arab children with congenital muscular dystrophy. All 21 cases were of the pure type, with normal mental status, except 1 case with perinatal hypoxic-ischemic insult. Fourteen were laminin 2 (merosin) deficient, and six were laminin 2 positive; laminin 2 status was not determined in one patient. None of the laminin 2—deficient patients achieved independent ambulation, whereas three of the laminin 2—positive patients were able to walk. The elevated levels of serum creatine kinase did not differentiate the two groups and tended to decrease after the age of 5 years. Radiologic evaluation demonstrated an abnormal central white-matter signal in 11 of 13 laminin 2—deficient and in 1 of 5 laminin 2—positive patients; none had evidence of brain dysplasia. Nerve conduction velocities were normal in 5 of 5 laminin 2—positive patients, whereas in the laminin 2—deficient patients, it was slow in 9 of 11 for the motor nerves and normal in 8 of 9 for the sensory nerve. Two of the laminin 2—positive patients had pseudohypertrophy of the calves, and two of the laminin 2—deficient ones had seizures. The patient in whom the laminin 2 status was not determined had a severe course, an abnormal central white-matter signal, and epilepsy and resembled more the laminin 2—deficient group. ( J Child Neurol2006;21:400—405; DOI 10.2310/7010.2006.00104).

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