Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?

M Z Seidahmed; Y Sunada; C O Ozo; F Hamid; K P Campbell; M A Salih

doi:10.1055/s-2007-973799

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Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?

Journal article

Peer reviewed

Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?

M Z Seidahmed, Y Sunada, C O Ozo, F Hamid, K P Campbell and M A Salih

Neuropediatrics, Vol.27(6), pp.305-310

12/1996

DOI: 10.1055/s-2007-973799

PMID: 9050048

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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 (MRI) in the proband. Ophthalmic evaluation revealed no ocular 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.

Diagnosis, Differential

Muscular Dystrophies - congenital

Humans

Arthrogryposis - complications

Muscle, Skeletal - ultrastructure

Brain - abnormalities

Muscular Dystrophies - complications

Magnetic Resonance Imaging

Evoked Potentials, Visual

Fatal Outcome

Female

Muscular Dystrophies - diagnosis

Infant, Newborn

Details

Title: Subtitle: Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?
Creators: M Z Seidahmed - Department of Pediatrics, Security Forces Hospital, Riyadh
Y Sunada
C O Ozo
F Hamid
K P Campbell
M A Salih
Resource Type: Journal article
Publication Details: Neuropediatrics, Vol.27(6), pp.305-310
Publisher: Germany
DOI: 10.1055/s-2007-973799
PMID: 9050048
ISSN: 0174-304X
eISSN: 1439-1899
Language: English
Date published: 12/1996
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984020870602771

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