esotropia/эпилептический припадок

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Acute comitant esotropia in a boy with head trauma and convulsions receiving carbamazepine.

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We examined an 11-year-old boy who complained of acute onset of diplopia. The patient had head trauma and postsurgical convulsions and had been treated with carbamazepine. Diplopia developed after the dose of carbamazepine was increased to 700 mg/day. On examination, comitant esotropia and lateral

Infantile esotropia: results in the neurologic impaired and "normal" child at NCMH (six years).

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Charts of all infantile esotropes who received their primary surgical procedure at the North Carolina Memorial Hospital, between February 1978 and June 1984 were reviewed. Neurologic problems (general and ocular) were identified in 29 of the 47 patients (61.7%) followed a minimum three months (mean

[Ocular manifestations of arachnoid cysts in children: report of two cases].

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Arachnoid cysts are congenital benign intracranial collections of cerebrospinal fluid. Most arachnoid cysts are small and asymptomatic. They are usually located in the temporal fossa. Classically described complications result from compression of adjacent structures and include neurologic

Human cerebellar hypoplasia: a syndrome of diverse causes.

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Seven children had congenitally small cerebella. Perinatal asphyxia was not a factor. Clinical signs in infancy were generalized muscular hypotonia, delayed development, truncal titubation, and intention tremor. Most had fixation nystagmus and esotropia. Three had seizures and an abnormal EEG.

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.

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By using an in-house bacterial artificial chromosome-based X-tilling array, we detected a 0.4 Mb novel deletion at Xq24 that included UBE2A in a 4-year-old and 10-month-old boy with mental retardation and various other characteristics inherited from his mother; for example, marked developmental

Optic nerve hypoplasia associated with absent septum pellucidum and hypopituitarism.

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Five children had bilateral optic nerve hypoplasia, absent septum pellucidum, and hypopituitarism. Absence of the septum pellucidum was shown by computed axial tomography. All of the children were first-born. One of the children was definitely not mentally retarded and one at age 7 months was

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

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X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to

Ophthalmologic abnormalities in a de novo terminal 6q deletion.

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OBJECTIVE To correlate the clinical phenotype with the genotype of a boy with a terminal deletion of chromosome 6q and to compare these observations to previous reports of 6q deletions and review of the literature. METHODS Careful clinical evaluation, conventional cytogenetic analysis on GTG-banded

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.

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Polymicrogyria is a cerebral cortical malformation that is grossly characterized by excessive cortical folding and microscopically characterized by abnormal cortical layering. Although polymicrogyria appears to have one or more genetic causes, no polymicrogyria loci have been identified. Here we

[A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation].

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Objective: To report a family diagnosed with Allan-Herndon-Dudley syndrome (AHDS) due to SLC16A2 gene mutation and to summarize the phenotypes, genotypes, diagnosis, treatment, and prognosis. Methods: The clinical features of a family of AHDS diagnosed in Xiangya Hospital of Central South University

Previously unrecognized behavioral phenotype in Gaucher disease type 3.

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OBJECTIVE To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics. METHODS Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in

Autosomal recessive frontotemporal pachygyria.

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Pachygyria is a cortical malformation that results from the abnormal migration of neurons. Regions of the brain with pachygyria have an abnormally thick cortex that lacks normal folding and has deficient layering. We describe three siblings, born to nonconsanguineous Mexican parents, who have

The X-linked syndrome of macroorchidism and mental retardation: further observations.

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We report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X-linked, or possibly autosomal dominant male-limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG (3/4), seizures (2/6), and one instance

Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

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OBJECTIVE To describe the long-term follow-up and distinct phenotype of a large cohort of patients with Gaucher disease type 3 on enzyme replacement therapy (ERT) in Egypt. METHODS A prospective cohort study of 78 patients on ERT who were followed for up to 9 years with yearly evaluations that

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

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The prognosis for 45,X/46,XX mosaicism diagnosed prenatally has yet to be established. We report our experience with 12 patients in whom prenatal diagnosis of 45,X/46,XX mosaicism was detected by amniocentesis for advanced maternal age or decreased maternal serum alpha-feto protein and compared them

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