hydranencephaly/seizures

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Electroencephalography, Doppler vascular scanning, and single photon emission computed tomography in a child with hydranencephaly and intractable seizures.

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In a child with hydranencephaly and refractory seizures, the electroencephalogram showed a flat isoelectric pattern with no significant slow waves or epileptiform activity; cranial computed tomography, magnetic resonance imaging, Doppler vascular scanning, and single photon emission computed

Brainstem seizures in hydranencephaly.

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Hydranencephaly.

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Hydranencephaly is a rare congenital condition where the greater portions of the cerebral hemispheres and the corpus striatum are replaced by cerebrospinal fluid and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon.

Hydranencephaly: clinical features and survivorship in a retrospective cohort

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Objectives: Hydranencephaly is a congenital central nervous system disorder characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia. Due to its rarity, data on the clinical features and survivorship

Porencephaly and hydranencephaly: a neuropathological study of four autopsy cases.

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Four autopsy cases of porencephaly and hydranencephaly were evaluated clinico-pathologically. The patients showed profound mental retardation, convulsive seizures and spastic quadriplegia. The life spans were much shorter in the hydranencephalic cases. Pathologically, the cerebral cortex in the

Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature.

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Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic

Porencephaly and hydranencephaly in six dogs.

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A retrospective study was performed to identify dogs with cerebrospinal fluid-filled cavitatory lesions on MRI. Six dogs were included and the lesions were classified. In the three dogs in the present study with hydranencephaly, unilateral but complete loss of the temporal and parietal lobes was

[Case of a Japanese female presenting severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) syndrome with a K650M mutation in the fibroblast growth factor receptor 3 gene].

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We diagnosed a Japanese female as having severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) syndrome. Genetic analysis revealed a K650M point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, described in only six other individuals in the world. The

Pattern of childhood neuronal migrational disorders in Oman.

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OBJECTIVE To record the pattern of different neuronal migrational disorders (NMD) and their associated neurological conditions. METHODS The data were collected at the Child Neurology Services of Sultan Qaboos University Hospital, Oman, from January 1993 to September 2006 from all children with

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

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Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder, caused by mutations in FLVCR2. Hallmarks of the syndrome are glomerular vasculopathy in the central nervous system, severe hydrocephaly,

SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS.

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The appearance of untreated severe hydrocephalus with long-term survival is infrequent; here we report a case with these characteristics, mild neurological alterations and kidney and skeletal anomalies. A female patient showed severe hydrocephalus (initially mistaken with hydranencephaly) at 4 years

Pattern of childhood epilepsies with neuronal migrational disorders in Oman.

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Neuronal migrational disorders form a significant cause of psychomotor delay and intractable epilepsy in children. Pediatric neurology services are available at Sultan Qaboos University Hospital, Muscat, Oman, which is a tertiary care hospital for the whole country. The children undergoing

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

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We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the corpus callosum (ACC). We now report 13 novel and two recurrent mutations of ARX, and one nucleotide change of

Antepartum fetal intracranial hemorrhage, predisposing factors and prenatal sonography: a review.

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Our objective was to review current literature pertaining to antepartum fetal intracranial hemorrhage. To this goal we selected all manuscripts published in the English language regarding this topic obtained from a MEDLINE search for 1966 through January 1998. Additional sources were identified

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