esotropia/癲癇性発作

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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