Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 12-year-old boy was admitted to our hospital in May 1990. Since two years previously, he became restless and could not adapt himself to his new school mates and teacher. He came to refuse going to school, and his intellectual performance rapidly deteriorated, thereafter. During the following two years, he gradually became mutic and incontinent with dystonic involuntary movements, and was admitted to our hospital. Examination revealed melanoderma, mutism, dementia and grossly normal visual and auditory system except for bilateral optic atrophy. Volitional movements were severely limited because of marked truncal and extreme dystonia and spastic paresis. Urinary 17-KS and 17-OHCS were decreased. Serum cortisol did not increase normally on rapid ACTH test. Very-long-chain fatty acids in serum were increased. Serial CTs and MRI demonstrated marked ventricular dilatation and diffuse white-matter lesions involving the frontal lobes, corpus callosum, internal capsules, and less markedly parieto-occipital regions with slight calcification in the optic radiations. Those in the frontal lobes had been visualised in CTs taken 18 months after the onset. School refusal, the initial symptoms of the patient, is one of serious socioeducational problems in Japan. While the majority of children with school refusal might be of non-organic affections, those with apparent mental deterioration and behavioral abnormalities should undergo non-invasive CT or MRI evaluation during the early stage of the disorder. And if diffuse white matter lesions is suggested even in the frontal lobe, the possibility of adrenoleuko-dystrophy should be considered.
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PMID:[A case of adrenoleukodystrophy having progressed from the frontal lobes]. 142 38

A mentally-retarded 21-year-old female with narrowing of the visual field was admitted to our hospital because of dystonia in the body and extremities which appeared 6 months before and was gradually exacerbating. On admission, torsion dystonia, pyramidal tract sign, and retinitis pigmentosa with optic atrophy, urinary incontinence, hyperhidrosis and insomnia were noted. On the Wechsler Adult Intelligence Scale, she achieved less than 60 for verbal-IQ. Laboratory tests including serum copper and ceruloplasmin, were all normal. A computed tomography of the brain showed small hyperdense spot in the globus pallidus on the both sides. There was neither cortical atropy nor ventricular dilatation. A Magnetic Resonance Imaging was obtained using both moderate-field (0.5 Tesla) and high-field (1.5 Tesla) superconducting MR systems. T2-weighted spin echo images demonstrated markedly decreased signal intensity area restricted in the globus pallidus and substantia nigra on both system. Moreover, in the center of the globus pallidus, a small high signal spot was seen ("eye-of the-tiger" sign coined by Sethi et al). There was no abnormal signal in the putamen, caudate nucleus, red nucleus, and dentate nucleus. On the other hand, T1-weighted inversion recovery images were not remarkable. These striking low attenuation on T2-weighted findings suggests an increased iron deposition limited to the globus pallidus and substantia nigra which is characteristic of Hallervorden-Spatz disease/syndrome (H-S). Moreover, "eye-of-the-tiger" sign on T2-weighted MR images in the globus pallidus is previously described in H-S.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[The role of magnetic resonance imaging in the diagnosis of Hallervorden-Spatz disease]. 226 8

We report the neurological, intellectual and visual outcome of 77 children with hydrocephalus of non tumoral origin. Neurological deficits and epilepsy were common, particularly in those with severe intellectual deficit and with acquired brain damages. Intellectual level prognosis was usually good, although lower than in a healthy population: 75% of children had full intellectual quotient (FIQ) higher than 70 but often, there was an heterogeneous pattern of the IQ with greater differences between verbal and performance results because of poor visual-spatial skills. Attention and syntax comprehension of language disabilities were also specifically encountered. Meningitis or toxoplasmosis secondary to hydrocephalus often resulted in a poor intelligence level but other causes did not influence intelligence level or pattern. Visual-spatial deficits, attention disorders and language disabilities did not seem related to the degree of hydrocephalus or the delay before shunting, but were especially encountered when ventricular dilatation persisted in spite of the operation. Functional amblyopias were frequent, certainly related to strabismus. Optic atrophy was rare and linked to direct compression of the optic nerves or to major and repeated episodes of intracranial hypertension.
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PMID:[What future is there for hydrocephalus children? Intellectual and visual neurological prognosis in series of 77 cases of non-tumor hydrocephalus]. 344 57

This study describes a series of 28 cases of neurosyphylis presenting atypical oligosymptomatic syndromes involving epileptic attack, chronic headache, peripheral facial paralysis, deafness, isolated optic atrophy, and cerebral ataxia. Diagnosis was based on positive results (VDRL-TPHA) of serological reactions in blood samples and analysis of cerebrospinal fluid showing pleocytosis (mean lymphocyte level, 69%) and elevated protein levels. Epilepsy and chronic headache were the most common clinical manifestations. Brain scan demonstrated low-grade ventricular dilatation associated with nonspecific cerebral atrophy in 8 cases and isolated cerebral atrophy in three. In the remaining 17 cases brain scans were normal.
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PMID:[Atypical neurosyphilis: 28 cases observed at the University Hospital Center of Conakry]. 1219 11