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Association of Congenital Muscular Dystrophy with Hypoplasia of the Lateral Abdominal Wall Musculature and Hypoplasia of the External Genitalia*By Q. H. Leyien, W. 0 . Renier1, E j. M. Gab reels1, H. G. Brunner2, H. J. ter Laak3 and R. A. Mullaart11 Department of Child Neurology, “Department of Human Genetics, and ^Research Laboratory of Morphological Neurology, University Hospital Nijmegen, P.O. Box 9101, 0500 HB Nijmegen, The Netherlands
Abstract
We present a child with the rare association of ct ngenital muscular dystrophy, hypoplasia of the lateral abdo ninal wall musculature and hypoplasia of the external genitc lia.
Key words
Congenital muscular dystrophy - Arthrogryposis multiplex congenita - Hypoplasia of abdominal musculature - Genital hypoplasia
Introduction
The “pure” congenital muscular dystrophy (CMD type 1) is an autosomal recessive muscular disorder that is present at birth or becomes manifest during the first year of life. It is characterized by generalized muscular weakness with non-progressive or slowly progressive clinical course, (sub)normal cognitive development, and muscle histology showing characteristic changes of fibre necrosis and fat and fibrous tissue infiltration (3, 10). A subgroup of “pure” CMD is associated with cerebral white matter hypodensity and mero- sin-negative staining of muscle biopsy (12, 17, 18), the merosin M-chain-deficient or laminm-a^r deficient CMD according to the new nomenclature (1). The laminin-ot2 gene is linked to chromosome 6q2 (4). CMD can be associated with multiple joint contractures. Congenital joint contractures (arthrogryposis) also occur in amyoplasia (8). Patients with amyoplasia have a higher frequency of non-limb anomalies such as hypoplastic external genitalia (8) and defects in the lateral abdominal wall musculature (14).
We describe a girl with the association of CMD, hypoplasia of the lateral abdominal wall musculature and hypoplasia of the external genitalia.
Received July 10, 1995; revised, accepted October 13, 1995
Case report
A girl, first child of healthy noil-consanguineous parents, was bom at 40 weeks. There was no family history of any neuromuscular disorder. Pregnancy was complicated by breech position, and was terminated by Caesarian section. Apgar score was 9 after 1 min. Birth weight was 3530 g, birth length 50 cm, occipitofrontal head circumference36.5 cm (60th centile). At birth, the neonate was hypotonic and weak, and had contractures of the neck, thumbs, elbows and hips, and slight campylodactyly. Deep tendon reflexes were absent and pathological reflexes could not be elicited. There was a striking hypoplasia of the lateral abdominal wall musculature (obliquus abdominis) with obvious diastasis (Fig. 1). The genitalia were female with absent major labia. There was no webbing of the skin (pterygium).
On admission at three years of age, the child showed marked motor delay, generalized weakness, hypotonia, flexion contractures of the neck, thumbs, elbows and hips, and slight campylodactyly. She was able to stand and walk, but only with support. Mental development was appropriate for her age. Examination of the eyes was normal.
Investigations
The following investigations were normal: full blood count, urea, creatinine, electrolytes, creatine kinase, carnitine, ammonia, proteins (including electrophoresis), lipids, cemloplasmin, purines, pyrimidines, thyroid function, organic and amino acid levels in plasma and urine, white blood cell (lysosomal) enzymes, blood and cerebrospinal fluid (CSF) lactate and pyruvate, and CSF analysis. Serology for toxoplasma, rubella, cytomegalovirus, herpes and syphilis was negative. Chromosome analysis revealed a normal 46,XX karyotype.
Neurophysiological investigations revealed normal motor nerve conduction velocities of the peroneal and median nerves, but myopathic features, i.e. an increased number of brief, polyphasic, small amplitude potentials in the deltoid, quadriceps and tibialis anterior muscles consistent with a myopathy There was no evidence of denervation/reinnervation.
Neuropediatrics 27 (1996) 108-110 © Hippokrates Verlag Stuttgart
* This investigation is part of the research programme “Disorders of the Neuromuscular System” of the University of Nijmegen.
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of the later al abdominal wall musculature, and 3) a “new” CMD subtype with prominent involvement of the lateral abdominal wall muscles, presenting a prune belly in the newborn period. We are presently unable to differentiate between these various possibilities. The first possibility receives some indirect support from observations in hereditary aplasia of specific muscles (2,
. The second hypothesis would parallel the situation in amyoplasia, where lateral wall hypoplasia is commonly seen
,14). Molecular genetic investigations may eventually reveal which of these hypotheses is correct.
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