De Morsier syndrome associated with periventricular nodular heterotopia: case reporte
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چکیده
منابع مشابه
De Morsier syndrome associated with periventricular nodular heterotopia: case report.
INTRODUCTION Septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction. CASE REPORT Third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes,...
متن کاملPeriventricular nodular heterotopia and Williams syndrome.
We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion ...
متن کاملDeletion of chromosome 1p36 is associated with periventricular nodular heterotopia.
Periventricular heterotopia (PH) is a malformation of cortical development characterized by the ectopic localization of neuronal nodules along the lateral ventricle. Mutations in X-linked filamin A gene are the most common cause of PH, although a rarer autosomal recessive form of PH with microcephaly due to ARFGEF2 mutations has been described [Sheen et al., 2001]. Affected individuals generall...
متن کامل47 patients with FLNA associated periventricular nodular heterotopia
BACKGROUND Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable age of onset. Psychomotor development and cognition may be normal or mildly to moderately impaired. Distinct associat...
متن کاملPeriventricular nodular heterotopia with overlying polymicrogyria.
Polymicrogyria (PMG) and periventricular nodular heterotopia (PNH) are two developmental brain malformations that have been described independently in multiple syndromes. Clinically, they present with epilepsy and developmental handicaps in both children and adults. Here we describe their occurrence together as the two major findings in a group of at least three cortical malformation syndromes....
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2007
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2007000400029