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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Search of the literature thus far indicates no prior description of rhinophyma occuring in tuberous sclerosis. There have been numerous reports of the usual skin lesion, adenoma sebaceum, together with the associated manifestations of severe mental retardation and convulsive seizures. In a 27-year-old woman, full-blown, severely deforming rhinophyma had its onset one year prior to her hospital admission. The family, horrified by her appearance, desired surgical intervention. The report includes a review of the literature and a description of the patient and of the surgical technique employed. The question of the desirability and difficulty involved in skin grafting is discussed, as are the microscopic findings and postoperative course. Particular attention is directed toward differential diagnosis and associated findings.
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PMID:Rhinophyma in tuberous sclerosis. 15 61

Tuberous sclerosis and Klippel-Trenaunay-Weber (KTW) syndromes are phakomatoses which are believed to be inherited separately. A 41 year old woman presented with the classic features of tuberous sclerosis: adenoma sebaceum, mental retardation, and seizures. In addition, the diagnostic triad of KTW involved the left lower limb: cutaneous naevi, a vascular anomaly, and osteohypertrophy. Arteriography documented the presence of visceral tumours and an arteriovenous malformation of the leg. This is the first reported association of the fully-developed symptomatology of tuberous sclerosis and KTW in one person.
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PMID:Tuberous sclerosis and Klippel-Trenaunay-Weber syndromes. Association of two complete phakomatoses in a single individual. 16 20

The evolution of the early clinical and EEG features in 100 children who developed the tuberous sclerosis syndrome is discussed with particular emphasis on individual variability of epileptic manifestations, skin changes, and mental defect. There were 61 boys and 39 girls. Seizures of various kinds occurred in 98 and in the first 2 years of life infantile spasms were a prominent feature (69) with a partial overlap of other kind of seizures (75). Mental defect (88) and poorly pigmented areas of the skin (77) were already detectable in the first 1 to 2 years of life, while fibroangioma of the face (adenoma sebaceum) (77) and intracranial calcifications (35) became increasingly apparent after the age of 2 to 4 years. The EEG abnormalities tended to be gross in the first 2 years of life, but their subsequent evolution was towards multifocal alterations and some areas of relatively better preserved rhythmic activity. The evolution of the various skin lesions did not run parallel either with that of the clinically detectable seizures or with the appearance of intracranial calcifications.
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PMID:The tuberous sclerosis syndrome: clinical and EEG studies in 100 children. 18 65

Concerning the clinical signs and symptoms, we noticed skin white macula in 87%, adenoma sebaceum in 53%, mental retardation in 75%, retinal phacoma in 54% and seizure in 92%. Numbers of nodules ranged from zero to 11, and showed no correlation with aging. Half of the cases showed slight ventricular dilatation, one quarter showed moderate dilatation and the remainder were normal. There was no definite correspondence between size of the ventricle and number of nodules. There were relatively many cases with normal mental state in the group with normal ventricles. In adult cases a large ventricle does not always mean poor prognosis in mental state. Almost all of the cases with cortical atrophy had mental retardation. In the group with moderate dilatation infantile spasms were the most frequent type of seizure. On the contrary, grand mal was most frequent in the normal group. As for the position of nodules there was no difference between the normal and dilated groups. Nodules were predominantly seen in the lateral aspect of the body, trigone of the lateral ventricle and adjacent to the foramen of Monro. Asymmetrical lateral ventricles were noticed in 18%. Incidence of laterality increased as dilatation proceeded. It was larger on the left side in 9 out of 11 cases. We have no reasonable explanation of this tendency. There was one case with a tumor which was verified by enhanced CT. There were five cases with brain anomalies.
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PMID:Computed tomography in tuberous sclerosis--with special reference to relation between clinical manifestations and CT findings. 31 69

The effects of a dietary manipulation on seizure frequency and activity level of a 3 1/2-year-old male with tuberous sclerosis, mental retardation, and uncontrolled seizures were assessed. Using a reversal design, the Feingold (K-P) diet was presented and withdrawn three times, while the medication regimen remained unaltered. Every application of the K-P diet resulted in substantial reductions in seizure frequency. During a 21-week follow-up, seizure frequency remained low despite the phasing out of one drug, and seizures were reportedly eliminated 1 year later. Brief objective measures of hyperactivity failed to show any effect due to the diet changes.
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PMID:Effects of the Feingold diet on seizures and hyperactivity: a single-subject analysis. 54 79

A 5-year-old Japanese boy had had infantile spasms at 5 months of age, and had intractable seizures, adenoma sebaceum and prominent tramtrack-like calcification in the left occipital pole at five years. A neurosurgical operation was performed for the resection of the left occipital focus. Pathological examination showed patchy glial fiber nets on the cortical surface, scattered dysgenetic giant cells both in the cortex and white matter, and calcified angiomatosis in the white matter. These findings correspond to those of tuberous sclerosis and calcified angiomatosis in the white matter.
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PMID:A case of tuberous sclerosis with calcification of angiomatous change in the white matter. 55 11

In two infants hospitalized at the ages of three and one-half months and 11 months because of epileptic seizures, the diagnosis of tuberous sclerosis was reached upon the basis of retinal astrocytomas found in the fundus examination. It is recommended that indirect ophthalmoscopy be performed in all infants and young children referred with signs possibly related to this disease.
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PMID:Retinal involvement in tuberous sclerosis. 60 46

A case of tuberous sclerosis without seizures in a 64-year-old man has been presented. Typical cutaneous, retinal, and bone lesions were found, along with calcifications in the lateral and third ventricle. Tuberous sclerosis is generally seen in young patients, though its occurrence in elderly patients has been described in the literature. Diagnosis in the present case was delayed. It is hoped that reemphasis of this aspect of tuberous sclerosis will lead to a prompt diagnosis in similar cases.
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PMID:Tuberous sclerosis in old age. 68 84

Tuberous sclerosis is characterized by epilepsy, mental retardation and adenoma sebaceum. Seizures and mental retardation were the presenting complaints in the nine cases presented here; however, a variety of clinical manifestations of the disease exist. Early diagnosis facilitates genetic counseling.
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PMID:Tuberous sclerosis. Report of nine cases and a review. 71 85

We have studied 4 children with tuberous sclerosis with one or more patches of depigmented scalp hair and in each case these were noticed by the parents at birth. In one patient the finding of a tuft of white hair preceded the appearance of white macules by many months. A tuft of white scalp hair is a useful new sign of tuberous sclerosis in the newborn and young child, and the hair should be examined as carefully as the skin when early 'organic' seizures are unexplained.
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PMID:Depigmented hair. The earliest sign of tuberous sclerosis. 74 3


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