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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A Japanese male infant with lissencephaly, congenital muscular dystrophy (CMD), and ocular abnormalities is described. This patient represents features of the cerebro-oculo-muscular syndrome. Cranial computerized tomography revealed diffuse agyria, low density of the white matter, and hypoplasia of the cerebellar vermis. Brain histology suggested type II lissencephaly. These findings are correlated with other similar conditions, such as Walker-Warburg syndrome, Fukuyama-type CMD, and muscle, eye and brain disease.
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PMID:Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculo-muscular syndrome. 249 76

We report the case of an infant with facial dysmorphism, congenital hydrocephalus, severe hypotonia and absence of psychomotor development, with ocular and cerebral malformations consistent with the diagnosis of Walker-Warburg syndrome (WWS). Investigations included a cerebral CT scan indicative of type II lissencephaly and a muscular biopsy which showed findings of muscular dystrophy. The association of hypotonia, developmental delay and seizures with a neuronal migration disturbance and retinal involvement raised the suspicion of a peroxisomal disorder. The pertinent biochemical investigations, however, were negative. The features of this syndrome are reviewed, emphasizing the similarities with other related disorders as cerebro-oculo-muscular syndrome. We suggest that muscle involvement should be investigated in every case of WWS.
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PMID:[Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy]. 261 34

The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis of aqueduct, Dandy-Walker cyst and cerebellar micropolygyria. The mode of transmission, the eyes abnormalities and the neuropathological findings of this family resemble the clinical and pathological aspects of Warburg syndrome. However, the presence of congenital muscle dystrophy in one of these children suggests some links with Fukuyama's congenital muscular dystrophy and/or with so-called brain-eye-muscle disease of Santavuori. These three syndromes are shortly discussed. The present case and few others reported in the literature obviously represent a severe and lethal form of a congenital disease involving brain, muscle and eyes.
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PMID:Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant? 229 Apr 88

Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome is a rare disorder encompassing a triad of brain, eye, and muscle abnormalities. The principal central nervous system features are cerebral and cerebellar agyria-micropolygyria, cortical disorganization, glial-mesodermal proliferation within the leptomeninges, neuronal heterotopias, hypoplasia of nerve tracts, hydrocephalus, and, occasionally, encephalocele. Ocular abnormalities include microphthalmia, cataract, immature anterior chamber angle, retinal dysplasia with or without retinal detachment, persistent hyperplastic primary vitreous, optic nerve hypoplasia, and coloboma. Skeletal muscle findings include fiber splitting, variable fiber size, and endomysial fibrosis. Recent evidence has shown that COD-MD syndrome may be identical to the Walker-Warburg (also known as Warburg) syndrome. Fukuyama congenital muscular dystrophy is similar to the COD-MD and Walker-Warburg syndromes, although the ocular manifestations are less severe. We report the histopathologic findings in two siblings with multiple features of COD-MD syndrome.
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PMID:Cerebro-ocular dysplasia-muscular dystrophy syndrome. Report of two cases. 310 22

Retinal dysplasia and agyria without cortical lamination are the constant findings in this autosomal recessive syndrome. There may also be anterior chamber malformations, cataract, and microphthalmos. Brain autopsies have shown a variety of associated malformations such as posterior encephalocele, Arnold-Chiari malformation, agenesis of the septum pellucidum and of the corpus callosum, agenesis of the vermis and hypoplasia of the cerebellum. Muscular dystrophy is probably present in most of these patients. Within the last few years, over 20 cases with a complete autopsy have been described. The syndrome should be differentiated from other syndromes with retinal non-attachment and retinal dysplasia, and from syndromes with hydrocephalus or encephalocele without these ocular features.
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PMID:Ocular malformations and lissencephaly. 311 42

The authors report two cases with severe cerebro-ocular malformations and muscular dystrophy who died at 14 and 8 months of age. In both, muscular dystrophy was confirmed by EMG and high muscle enzyme values. In one case, autopsy showed severe cerebral malformation consisting of lissencephaly, hydrocephalus, agenesis of corpus callosum, chiasma and olfactory bulb and lobe, absence of pyramides and cerebellar vermis. In sections of cerebral cortex a clear absence of structural cellular organization and spongiosis of the white matter were evident. Similar disorganization was found in the cerebellum where numerous calcifications were present. The muscle showed signs of primitive muscular dystrophy. The clinical autonomy of the cerebro-ocular-dysplasia-muscular-dystrophy syndrome is discussed. The clinical and pathological data are compared with the two other similar syndromes (i.e. Fukuyama's and Warburg's diseases).
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PMID:Cerebro-ocular dysplasia and muscular dystrophy: report of two cases. 337 64

The Fukuyama form of congenital muscular dystrophy (FCMD), first described in Japan, is associated with distinct dysplastic cerebral malformations including agyria and micropolygyria of cerebral cortex, micropolygyria of cerebellum, and leptomeningeal gliomesodermal proliferations. We describe seven cases in four families from the United States with a syndrome similar to FCMD but with additional ophthalmic malformations. We believe that these cases represent a form of congenital muscular dystrophy different from FCMD and termed it cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.
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PMID:Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome. 644 38

The present study is a review of four new cases of lissencephaly and two others previously reported. This study demonstrates that lissencephaly is a gross feature of the brain occurring in two different groups of cortical malformations. The first group, the classic agyria syndrome extensively analyzed by Jellinger and Rett [8] includes two types of abnormal cortical organization. They may be found in familial syndromes and also can appear sporadically. The second group includes smooth brains with the internal features of polymicrogyria and a more severely disorganized cortex. This type appears in familial lissencephaly in the cerebro-oculo-muscular syndrome, belonging to the same group as Fukuyama congenital-cerebro-muscular dystrophy. The other incidences of this type of cortical malformation require further investigation. The clinico-pathological differential diagnosis of two types of lissencephaly are also discussed.
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PMID:Lissencephaly: two distinct clinico-pathological types. 661 89

Familial occurrence of cerebral malformations with muscular dystrophy was described by Fukuyama as congenital cerebromuscular dystrophy. We have observed a new syndrome belonging to the same group in three siblings. These syndromes differ in the degree of CNS involvement and abnormalities in the eye. The main clinical characteristics of our cohort were dysmorphic face, hypotonia, areflexia, failure to thrive, corneal opacity, cataract, dysgenesis of the anterior chamber of the eye, and death within the 1st year of life. Hydrocephalus and agyria were verified by computed tomography. Neuropathologic examination demonstrated malformations of the CNS. The agyric hemispheres with polymicrogyria in several cortical segments and severe cortical disorganization in other segments represented the principal anomaly. Congenital muscular dystrophy was also found. The CNS anomalies demonstrated a long-lasting pathologic process extending to involve the eye and muscle, which is most likely an inborn error of metabolism with autosomal recessive inheritance.
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PMID:Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy. 682 Mar 33

The merosin M-chain (or laminin-alpha 2) is one of three subunits of laminin-2 which is highly expressed in striated muscle and peripheral nerve. Complete lack of laminin-alpha 2 expression in skeletal muscle is the hallmark of one form of congenital muscular dystrophy which is characterized by dysmyelination of the central nervous system (CNS), links to chromosome 6q2 and is common among Caucasians. Laminin-alpha 2 expression was also found to be significantly reduced in Fukuyama congenital muscular dystrophy which links to chromosome 9q3. We report consistently preserved laminin-2 expression, including laminin-alpha 2, as detected by immunofluorescence in skeletal muscle from five patients with Walker-Warburg syndrome which is characterized by congenital muscular dystrophy and, in addition, type II lissencephaly or pachygyria, defective CNS myelination, and ocular dysgenesis. These findings show that in spite of partial phenotypic overlap between Fukuyama CMD and Walker-Warburg syndrome the two disorders are nosologically separate disease entities. They also exclude that Walker-Warburg syndrome is allelic to the common form of congenital muscular dystrophy with laminin-alpha 2 deficiency.
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PMID:Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. 897 52


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