Journal of child neurology
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Case Reports
16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report.
We describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegia-epilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal 16p13.11 microdeletion that confers susceptibility to various types of epilepsy. This is the first report detailing an association of hemiconvulsion-hemiplegia-epilepsy syndrome with a 16p13.11 deletion and identifies another potential causal factor for hemiconvulsion-hemiplegia-epilepsy syndrome.
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Neurofibromatosis type 1 disease is an autosomal dominant disorder associated with numerous ophthalmic and systemic manifestations. Organic causes of visual loss include optic pathway gliomas, orbital plexiform neurofibroma, and glaucoma. In this study, the authors analyzed the prevalence of ametropia as a cause for visual loss in children with neurofibromatosis type 1 disease younger than age 12 years compared to matched controls. ⋯ A higher need for optical correction was found in children with neurofibromatosis type 1 disease (33.3% vs 17.1% of controls, P = .049). In conclusion, children with neurofibromatosis type 1 disease have a higher prevalence of ametropia, especially mild myopia and astigmatism, often requiring optical correction. Routine refraction screening is recommended for limiting preventable visual loss.
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Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies. We report a 2-year-10-month-old white female with this syndrome caused by mutations in the ZEB2 gene, and in addition a duplication of the 22q11.23, a previously undocumented occurrence.