polymicrogyria/asthenia

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Stranica 1 iz 17 rezultatima

Occipito-temporal polymicrogyria and subclinical muscular dystrophy.

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Prijava Registriraj se

We report a two-year-old Caucasian boy who had neonatal seizures and was found to have bilateral occipito-temporal polymicrogyria on neonatal brain MRI. The child had no additional neurological abnormality other than the neonatal seizures, but serum CK was found to be elevated (5 - 7 times normal

Congenital muscular dystrophy associated with micropolygyria - report of two cases.

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This is a report on two autopsy cases of congenital muscular dystrophy associated with micropolygyria. The first case was that of an 11-year-old boy and the other of a 22-year-old male adult. Both cases had similar clinical features, very early onset of disease, diffuse and extensive wasting of

Partial Encephalocraniocutaneous Lipomatosis Syndrome.

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Prijava Registriraj se

Encephalocranial lipomatosis is a rare disorder that characteristically involves ectomesodermal tissues such as skin, eye, and the central nervous system. Here, we report a 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and weakness of right lower limb. Imaging

Fukuyama type congenital progressive muscular dystrophy.

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Prijava Registriraj se

Clincopathological features of Fukuyama type congenital muscular dystrophy (FCMD), a combination of brain malformation and muscular dystrophy with facial muscle and CNS involvement and high prevalence in Japan, are reviewed. Evidence of progressive dystrophy, negative correlations between muscle

Neurological manifestations of Ehlers-Danlos Syndrome.

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Prijava Registriraj se

Ehlers-Danlos Syndrome (EDS) is more identified for its cutaneous features but its neurological manifestations have not received the focused attention. Four patients of Ehlers-Danlos Syndrome (EDS) with neurological manifestations were evaluated for phenotypic data. These four men were from three

[Recent advances in congenital muscular dystrophy research].

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Prijava Registriraj se

Congenital muscular dystrophy (CMD) is a group of heterogeneous disorders characterized clinically by delayed milestones due to generalized muscle weakness and dystrophic muscle pathology. The discovery of fukutin, responsible gene for Fukuyama CMD (FCMD) and defective glycosylation in its muscle

[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases].

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Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and

Neuroimaging abnormalities in infants with congenital hemiparesis.

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Prijava Registriraj se

Clinical and neuroimaging characteristics of congenital hemiparesis were examined in a retrospective cohort study nested within 199,176 births within the Kaiser Permanente Medical Care Program, 1997-2002. Infants with a physician diagnosis of paresis or cerebral palsy were electronically identified,

The childhood muscular dystrophies: making order out of chaos.

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Prijava Registriraj se

New discoveries have dramatically changed the way we approach and think about patients with childhood muscular dystrophies. An aura of order and organization seems to be at hand for a group of diseases which previously seemed endlessly heterogeneous. We have learned that young boys and girls with

Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy.

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We report the brain magnetic resonance imaging (MRI) findings in 23 patients with merosin-positive congenital muscular dystrophy (CMD). Twelve patients had normal scans. Eight other children had essentially normal scans but showed mild non-specific periventricular white matter changes. Three

Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.

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OBJECTIVE Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.

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Prijava Registriraj se

BACKGROUND Muscle-eye-brain disease (MEB) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities, and type II lissencephaly. Previous reports of brain abnormalities on magnetic resonance images (MRIs) in MEB have been in children older

Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family.

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Prijava Registriraj se

A Dutch sibship is described consisting of a girl and a boy affected by the same disease. Both suffered from hydrocephalus and severe generalized weakness with death at 2 days and 4 months respectively. Full autopsy was done on the boy and this revealed a lissencephalic, partly polymicrogyric,

Pena-Shokier phenotype: case presentation and review.

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Prijava Registriraj se

Pena-Shokier phenotype is an early lethal disorder involving multiple joint contractures, facial anomalies, and pulmonary hypoplasia. Alternative terms for this syndrome used in the literature include fetal hypokinesia syndrome, lethal congenital contracture syndrome, and Pena-Shokier syndrome type

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

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To describe fetal, clinical, radiological, morphological features of TUBB3 related syndrome.We report two families each of two generations harboring a novel and a previously described heterozygous TUBB3 pathogenic variants. We compared these patients with

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