strabismus/epileptische aanval

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Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature

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Background: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with

Ring chromosome 18 in a child with febrile seizures.

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Ring chromosomes are uncommon cytogenetic findings but have meanwhile been reported for nearly all human chromosomes. Among the rare observations of ring chromosomes in man, the diagnosis of ring chromosome 18 represents a prominent group. We here describe on the cytogenetic analysis results

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome.

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We report on a family in whom the combination of mental retardation (MR), anterior maxillary protrusion, and strabismus segregates. The healthy, consanguineous parents (first cousins) of Israeli-Arab descent had 11 children, 7 of whom (5 girls) were affected. They all had severe MR. Six of the seven

[Autoscopic occipital seizures and occipital poroencephalic lesion: considerations on a case].

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Autoscopy is an hallucinatory phenomenon during which the subject see his own image. It may be caused by organic processes like migraine, vascular diseases, tumoral lesions, and exceptionally by epileptic seizure. The case of 15 years old boy is reported, affected by hemianopia, surgically treated

Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype?

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Intellectual disability (ID) results from a heterogeneous group of disorders and affects 1% to 2% of children. ID frequently occurs in association with other clinical features such as seizures or malformations. We suspected that strabismus might also be unusually frequent in this

Congenital infection with human herpesvirus 6 variant B associated with neonatal seizures and poor neurological outcome.

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Human herpesvirus 6 (HHV 6) has neurotropic and neuroinvasive properties. The virus has been found in the cerebrospinal fluid of many children with aseptic meningoencephalitis. Intrauterine transmission has been documented by HHV 6 DNA detection in cord blood specimens of apparently healthy newborns

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

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We studied three siblings, born to consanguineous parents who presented with severe intellectual disability, cachexia, strabismus, seizures and episodes of abnormal respiratory rhythm. Whole exome sequencing led to identification of a novel homozygous splice site mutation, IVS29-1G > A in the NALCN

Postoperative pseudoepileptic seizures in a known epileptic: complications in recovery.

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A 47-yr-old woman underwent general anaesthesia for a squint correction. She had previously suffered a cerebral venous thrombosis, presenting as grand mal seizures during recovery from general anaesthesia for minor surgery. Subsequently, she was affected by Jacksonian limb seizures and petit mal

Epileptic ictal strabismus: a case report and review of the literature.

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Ictal strabismus, sometimes associated with epileptic nystagmus, is an extremely rare epileptic phenomenon, suggestive of cortical involvement in monocular eye movement control. We describe a patient with ictal disconjugate contraversive horizontal eye deviation of cortical origin as the main

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

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Incidental reports suggest that antenatal treatment of pyridoxine dependent seizures (PDS) may improve neurodevelopmental outcome of affected patients. Two families with PDS are reported, both with two affected siblings. Antenatal treatment with pyridoxine was instituted during the second pregnancy

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.

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BACKGROUND FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of

Epileptic seizures induced by cycloplegic eye drops.

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OBJECTIVE To assess the incidence of seizures induced by cycloplegic ophthalmic drops. METHODS A survey among members of the American Association for Pediatric Ophthalmology and Strabismus yielded five patients who received cycloplegic eye drops between 1998 and 2010 and who consequently developed a

Malignant migrating partial seizures in infancy.

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The syndrome of malignant migrating partial seizures in infancy (MMPSI) was first reported in 1995, and is now included among the childhood epileptic syndromes in the revision proposal of the ILAE Commission on classification and terminology. The main clinical features are seizure onset in the first

Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.

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A regional population-based survey identified six patients with pyridoxine dependency. Four presented on the first day of life and the other two at 1 and 8 months of age. Apart from multiple seizure types, other presenting features included jitteriness; encephalopathy, at first thought to be

Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.

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We report a 15 month old boy with prominent metopic suture, epicanthal folds, strabismus, low-set ears, microretrognathia, large anterior fontanel, bilateral simian creases, muscular hypotonia, and severe psychomotor retardation. He also had West syndrome. An electroencephalogram showed

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