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 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)
 ...
PMID:[The role of magnetic resonance imaging in the diagnosis of Hallervorden-Spatz disease]. 226 8

Creutzfeldt-Jakob disease (CJD) is a presenile dementia characterized by rapidly progressive mental deterioration, myoclonic jerking, and other less common neurological signs. Few autoctonous cases have been described in Brazil. A 54-year-old white woman, was admitted in our service with a month history of progressive, bilateral cortical blindness. After admission, she developed right partial motor seizures( right facial, upper and lower limbs), she became progressively aphasic( mixed aphasia). Seizures were controlled with phenytoin, but she developed choreoathetotic movements on her right dimidium, with partial control after introduction of chlorpromazine 25 mg q/d. She could no longer stand up or walk due to severe ataxia. The first EEG (October, 2001) showed left hemisphere severe seizure activity (status epilepticus partialis). She was delivered home with enteral nutrition, phenytoin, chlorpromazine and mepacrine 100 mg qd. The following laboratorial tests were negative or normal: blood series, platelets, ESR, kidney and liver function, copper, ceruloplasmin, VDRL, HIV, HTLV-1, lactate, and cerebral DSA (performed in other service).A spinal tap with normal opening pressure was perform and CSF examination was normal. CSF 14-3-3 protein was positive, CSF specific neuronal enolase 7.5 ng/ml(normal). Genetic study of PRNP gene did not disclosed any known mutation. A MRI (October, 2001) showed areas of hyperintense signal (T2 and FLAIR) without Gd-enhancement on T1, in the left temporal lobe and in both occipital lobes; basal ganglia have a normal appearance. DWI imaging showed bright areas at the same sites. An EEG (March, 2002) disclosed a periodical sharp triphasic waves pattern, suggestive of CJD. A second MRI (April, 2002) showed mild generalized atrophy, no ventricular dilatation, and the hyperintense sites disappeared. She remained clinically stable and under use of chlorpromazine and mepacrine until she died due to pulmonary complications on April, 2003.
 ...
PMID:[Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI) findings]. 1523 44