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Neuropediatrics 1996; 27(6): 305-310
DOI: 10.1055/s-2007-973799
Original Articles

© Hippokrates Verlag GmbH Stuttgart

Lethal Congenital Muscular Dystrophy in Two Sibs with Arthrogryposis Multiplex: New Entity or Variant of Cobblestone Lissencephaly Syndrome?

M. Z. Seidahmed1 , Y. Sunada2 , C. O. Ozo3 , F. Hamid4 , K. P. Campbell2 , M. A. M. Salih5
  • 1Neonatology Unit, Department of Pediatrics, Security Forces Hospital, Riyadh;
  • 2Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa, College of Medicine, Iowa City, USA
  • 3Department of Pathology, College of Medicine, King Saud University, Riyadh;
  • 4Radiology Department, Security Forces Hospital, Riyadh;
  • 5Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh;
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Publication History

Publication Date:
13 March 2007 (online)

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Abstract

We report on two sisters of first degree cousin parents who were born with severe hypotonia, arthrogryposis multiplex congenita (AMC) and dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. They needed assisted ventilation and each died at the age of 5 months. Both had type II lissencephaly (cobblestone lissencephaly) which was visualized by magnetic resonance imaging (MM) in the proband. Ophthalmic evaluation revealed no occular malformations in either of them. Brain auditory evoked potentials (BAEP) revealed bilateral severe sensorineural hearing loss in the proband, whereas an MRI-guided open muscle biopsy of the sartorius muscle (the only remaining thigh muscle) showed features of muscular dystrophy. Immunohistochemistry revealed normal dystrophin, dystrophin-associated glycoproteins (DAG) and merosin.

Certain clinical and pathological features distinguish the disease seen in these sisters from reported isolated cases where lethal AMC was associated with brain dysplasia and from the main syndromes of congenital muscular dystrophy/cobblestone lissencephaly. Differences from the Walker-Warburg syndrome, which simulates it in severity, included the absence of severe hydrocephalus, normal creatine kinase (for age) and minimal (mainly periventricular) white matter abnormalities. The findings suggest either an independent entity, in the studied family, or an allelic variation of the cobblestone lissencephaly (type II lissencephaly) syndrome.

Key words

Congenital muscular dystrophy - CNS malformation - Arthrogryposis

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