Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Forty patients with Sturge-Weber syndrome were studied over a 26-year period. The nevus flammeus was unilateral in 27 patients (twice as often on left side) and bilateral in 13 patients. Only 3 of these 13 patients had bilateral cerebral lesions. Seizures, most of which were focal, were present in 32 patients (80%). The percentage of patients in whom the seizures subsequently became generalized was very high. Seizure presentation coincided with febrile episodes in 10 of 32 patients (31%). Total seizure control was obtained in 15 patients (47%). Abnormality of the cerebral parenchyma can be detected from birth in some patients and has a progressive character; at the same time, progressive atrophy and parenchymatous hyperdensity of the affected hemisphere is evident, as well as a decrease in arterial size, especially during the first decade of life. No relationship exists between the size of the facial nevus flammeus or its unilateral or bilateral location and clinical neurologic impairment. Conversely, a direct relationship exists between greater anatomic manifestations (i.e., atrophy, calcification) in the involved hemisphere when the lesion is unilateral as well as the presence of leptomeningeal angiomatosis in both cerebral hemispheres in patients with bilateral facial nevus flammeus and the severity of clinical disorders. Mental retardation was present in 60% of patients and was severe in 32.5% of all patients. Even though computed tomography and T1- and T2-weighted magnetic resonance imaging have great diagnostic value, magnetic resonance imaging enhanced with gadolinium-DTPA discloses the cerebral, leptomeningeal, and ocular lesions before the first evidence of neurologic abnormality.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Sturge-Weber syndrome: study of 40 patients. 821 40

A 45-year-old man was admitted to our hospital because of generalized seizure. He had epilepsy and mental retardation since age of two. On admission temperature was 37.9 degrees C but, nuchal rigidity and Kernig's sign were not present. There were no other abnormal findings on physical examination. Neurological examination revealed consciousness disturbance, generalized seizure and mental retardation. Right hemiparesis gradually developed after generalized seizure. Laboratory data did not show any abnormalites to induce cerebral venous thrombosis. A brain MRI revealed hyperintensity on T2-weighted images and slightly enhanced on T1-weighted images in the left frontal lobe, using Gd-DTPA. An increased signal was also noted in the superior sagittal sinus on T1-weighted images. The superior sagittal sinus was patent but the cortical vein in the left frontal lobe was not demonstrated on cerebral angiography. A diagnosis of an isolated cortical vein thrombosis was made by exploratory craniotomy. Anticoagulation with heparin was started. Although the cortical vein thrombosis usually co-exsists with dural sinus thrombosis, an isolated cortical vein thrombosis like this case was rather rare. A case with cerebral venous thrombosis localized only in the left frontal cortical vein is reported, but definitive etiology is not known.
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PMID:[A case with an isolated cortical vein thrombosis]. 904 55

A 5-month-old girl presented with enlargement of the head circumference. Neurological examination revealed right hemiparesis and bulging of the anterior fontanel. T1-weighted magnetic resonance imaging with gadolinium DTPA showed a well-enhanced, huge tumor extending from the left frontal lobe to the parietal lobe. Cerebral angiography showed the main feeding arteries were the central sulcus artery and the posterior parietal artery. The tumor was totally removed using a sulcotomy and temporary clipping of these feeding arteries to control bleeding. The histological diagnosis was anaplastic astrocytoma. Postoperative radiation therapy was avoided so as to prevent the side effect of radiation therapy such as mental retardation and growth impairment. Chemotherapy using VP-16 and CDDP was given every six months as adjunct therapy. No tumor recurrence has been recognized for over a period of 2 years and 5 months after surgery and growth and mental development have been satisfactory. Total removal using great care not to damage neurological function followed by postoperative chemotherapy is the treatment of preference to obtain good prognosis and quality of survival in infant with such tumors.
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PMID:[A case of infantile anaplastic astrocytoma treated with surgery and chemotherapy]. 943 Jan 49