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Short communication
108
Association of Congenital Muscular Dystrophy with Hypoplasia
of the Lateral Abdominal Wall Musculature and Hypoplasia
of the External Genitalia*
By Q. H. L eyien, W. 0 . Renier1, E j. M. Gab reels1, H. G. Brunner2, H. J. ter Laak3 and R. A. Mullaart1
1Department 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
Case report
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 - Arthro
gryposis 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)nor
mal 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 m atter hypodensity and merosin-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 chro
mosome 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.
A girl, first child of healthy noil-consangui
neous parents, was bom at 40 weeks. There was no family
history of any neuromuscular disorder. Pregnancy was compli
cated 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 circumference
36.5 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 muscu
lature (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) lac
tate 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 nor
mal motor nerve conduction velocities of the peroneal and
median nerves, but myopathic features, i.e. an increased num
ber of brief, polyphasic, small amplitude potentials in the
deltoid, quadriceps and tibialis anterior muscles consistent with
a myopathy There was no evidence of denervation/reinnerva
tion.
Received July 10, 1995; revised, accepted October 13, 1995
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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Neurovediatrics 27
t\ lX
Q. H. Leyten et al
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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.
10
11
12
13
14
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mmm
■
Department of Child Neurology
University Hospital Nijmegen
Box 9101
NL-6500 HB Nijmegen
The Netherlands
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