Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications. From birth he showed partial gigantism of the first two fingers of the right hand associated with an arteriovenous malformation of the ulnar artery and agenesis of the radial artery. The EEG and CT scan studies are also reported. The occurrence of two dysgenetic disorders in one patient as a manifestation of disturbed embryogenesis at a very early stage of development is discussed.
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PMID:Tuberous sclerosis associated with partial gigantism in a child. 340 55

Fifteen (12.7%) among 118 cases of the West syndrome were effectively treated by high-dose pyridoxal phosphate (PAL-P). 1) Clinical seizures were completely suppressed in 12 cases with PAL-P alone, and in 3 cases by an addition of PAL-P to the previously poorly-effective regimen. At the follow-up, 12 cases have continued to be free from seizures, while two cases relapsed into the Lennox-Gastaut syndrome, and one died. 2) Electroencephalographically hypsarhythmia disappeared by PAL-P in all 15 effective cases. 3) Effective daily dose of PAL-P was 30 to 400 mg. 4) Notably, PAL-P was effective even in the cases with obvious organic brain pathology, such as tuberous sclerosis, porencephaly, holoprosencephaly, postmeningitis, besides 5 idiopathic cases. 5) Efficacy of PAL-P was significantly higher in idiopathic cases than symptomatic cases; 35.7% vs 9.6%. 6) Response to PAL-P was not predictable by any laboratory data nor clinical features. 7) Prognosis of PAL-P responsive cases was favorable; as many as 6 cases developed normally among 14 cases followed-up. Treatment with a high-dose PAL-P should be tried in all cases of the West syndrome at first.
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PMID:Treatment of the West syndrome with high-dose pyridoxal phosphate. 343 17

A child with focal intractable seizures and electroencephalographic evidence of a highly epileptogenic focus was found to have a high-density, wedge-shaped lesion in the left parietal region on cerebral computed tomography. The lesion extended from the ventricular to the pial surfaces and did not enhance after contrast infusion. Biopsy confirmed the diagnosis of tuberous sclerosis. Atypical features of tuberous sclerosis on computed tomography are reviewed and the possible pathogenesis of the lesion is discussed.
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PMID:Hyperdense cerebral lesion in childhood tuberous sclerosis: computed tomographic demonstration and neuropathologic analysis. 350 97

A follow up of 14 cases of tuberous sclerosis is presented. Cutaneous signs, epileptic seizures and developmental disabilities were recorded over a period ranging between 2 and 25 years from the onset of symptoms. A correlation can be established between the time of appearance of epilepsy and the degree of mental retardation. Antiepileptic treatment does not seem to prevent developmental disability.
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PMID:[Bourneville's tuberous sclerosis: neurological manifestations and skin anomalies]. 360 8

A case of tuberous sclerosis presenting with autistic behaviour is described. Although tuberous sclerosis is a rare cause of the autistic syndrome, it should be more strongly suspected when autistic behaviour is associated with seizures in a young child.
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PMID:Tuberous sclerosis and the autistic syndrome. 366 12

Tuberous sclerosis is an inherited neurocutaneous disorder characterized by seizures, mental retardation, cutaneous lesions and visceral hamartomas. We describe a 17-year-old boy in whom polycystic kidneys of the adult type were fortuitously detected on routine check-up. The patient enjoyed good health and had no evidence of renal dysfunction. Closer scrutiny of his past history and his physical and laboratory findings disclosed that he had tuberous sclerosis. Our case adds to the scant reported experience with the association of tuberous sclerosis and adult-type polycystic kidneys, and suggests that a search of additional manifestations of tuberous sclerosis is warranted in children in whom adult-type polycystic renal disease is detected.
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PMID:Polycystic kidneys as the presenting feature of tuberous sclerosis. 366 30

A family is reported where tuberous sclerosis has probably affected five generations, but where none of the members has been mentally retarded and there is no history of seizures.
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PMID:Tuberous sclerosis: a large family with no history of seizures or mental retardation. 366 49

Authors describe twelve children with diagnosis of tuberous sclerosis (TS) within the first year. All children had seizures, being infantile spasms in 7 cases (58%). All but one showed severe mental retardation. Hypopigmented patches in 2 (16.6%) and retinal phakoma in one case (8.3%). Skull Rx were normal in all cases, while the CT showed early intracranial calcifications in the 100% of the patients and areas of hypodensity in the 50%. The CT is the most useful test for the early diagnosis of TS when the clinical diagnosis has not been firmly established.
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PMID:[Usefulness of cerebral computed axial tomography in the early diagnosis of tuberous sclerosis]. 370 22

Polysomnographical examinations were performed on two cases with unilateral lesion in the basal ganglia. One (case 1) was a 10-year-old girl with tuberous sclerosis with subependymal nodules on the left thalamostriatal sulcus and rotatory seizures, and pharmacologically the existence of a postsynaptic supersensitivity of the dopaminergic (DA) neurons, was suggested. The other (case 2) was an 8-year-old boy with infarction of the left putamen. Two types of body movements (BMs); gross movements (GM) and twitch movements (TM), were evaluated. The mode of occurrence of these BMs against each sleep stage, the pattern of BMs, and the ratio of the number of TM in the mentalis muscle in stage REM against the number of rapid eye movements (REMs) (ment TM REM/REMs) were estimated. The modulation of these parameters by L-Dopa and pimozide was studied. The pattern of GM reflected the DA activity of the side of the lesion. TM of the contralateral side reflected the pathophysiology of the lesion. TM of the ipsilateral extremities of case 1 showed the pattern of DA hyperactivity, which were reduced by small doses of L-Dopa. In case 2, TM of the ipsilateral extremities showed a normal pattern and rate, which increased markedly after L-Dopa. The TM of the sternocleidomastoideus revealed abnormal ipsilaterally in case 1 and contralaterally in case 2. The ment TM REM/REMs ratio reflected the real function of the DA neurons and did not reflect their hyperfunction due to postsynaptic supersensitivity. The numbers and direction of REMs might reflect the function of the basal ganglia, particularly of the DA neurons.
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PMID:Polysomnography--functional topographical examination of the basal ganglia. 379 17

It is well known that intraventricular tumors are occasionally seen in patients with tuberous sclerosis. We have experienced two cases of tuberous sclerosis with intraventricular tumor. Case 1: an 8-year-old girl was admitted to our clinic because of headache and vomiting of one month's duration. She had adenoma sebaceum, mental retardation and seizures clinically, and a large tumor was found in the right lateral ventricle by pneumoventriculography. Partial removal of the tumor was performed by the right frontal transcortical approach, but she later died of pneumonia. Necropsy revealed hamartomatous disease characterized by multiple focal tumor-like malformations in various organs including the brain, kidneys, heart, lungs and liver. The histological diagnosis of the intraventricular tumor was subependymal giant cell astrocytoma. Case 2: a 6-year-old boy was admitted to our clinic because of headache of one year's duration. He had also suffered from seizures since 6 months of age. Adenoma sebaceum was noted in the cheeks. CT revealed a medium sized tumor at the right foramen of Monro and the moderately dilated right lateral ventricle and several calcified deposits in the lateral ventricle wall. The tumor was subtotally removed by the right frontal transcortical approach. The pathological examination showed subependymal giant cell astrocytoma. Now 6 years after the operation he is enjoying a normal school life. In our cases, intraventricular tumors associated with tuberous sclerosis were of a typically benign histological appearance, that is subependymal giant cell astrocytoma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Tuberous sclerosis with intraventricular tumor: report of 2 cases]. 380 99


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