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PubMedDate not supplied

Surgical treatment for epilepsy in cerebral tuberous sclerosis.

Tuberous sclerosis (TS) is an autosomal dominant hamartiosis and hamartomatosis with variable expression that is commonly associated with medically intractable seizures. Patients with TS complex (TSC) frequently have multiple brain lesions that can give rise to seizure activity. We report 9 patients with TSC who underwent epilepsy surgery at the Mayo Clinic between 1986 and 1990. Surgical procedures performed included cortical resection (n = 2) and stereotaxic lesionectomy (n = 7). Neuropathologic diagnoses were cortical tubers (n = 7) and glioneural hamartomas (n = 2). Three of 9 patients had multifocal interictal scalp epileptiform EEG activity; however, ictal recordings identified the focus of seizure activity, which in all cases corresponded to a prominent neuroimaging abnormality. Our patients have been followed for 10-72 months (mean 35 months). Four patients are seizure-free with medication, 2 are seizure-free without medication, 2 had > 80% reduction in seizure frequency, and 1 experienced only an initial temporary reduction in seizure frequency. Postoperative EEG recordings showed absence of epileptiform abnormalities in the 5 patients who are seizure-free; the other 4 patients continue to have multifocal abnormalities. These data suggest that epilepsy surgery may be beneficial in selected patients with TSC despite multifocal EEG and neuroimaging abnormalities.

Adolescent↗
PubMed1998

Long-term course of West syndrome associated with tuberous sclerosis.

We retrospectively analyzed the long-term clinical profiles of 47 patients with West syndrome (WS) associated with tuberous sclerosis (TS) the follow-up study for >10 years showed that WS developed into epilepsies of various types in all patients. Their final diagnoses were symptomatic generalized epilepsy (SGE: 29 patients, 62%), symptomatic partial epilepsy (PE: 14 patients, 30%), and undetermined epilepsy (UE: 4 patients, 8%). Eighty-five percent of all patients continued to show the same types of epilepsy that they had at their first examination, but in 15% the diagnosis had to be revised at the end of the follow-up period. The outcome of seizures was unfavorable for the SGE group. In the PE group, however, seizures were controlled in 9 (64%) of the 14 patients, and disturbances of daily activity were mild. In patients with WS associated with TS, the seizure outcome and social activity varied depending on the type of epilepsy or epileptic syndrome that developed from WS. The complicated clinical developments from WS with TS multiple cortical tubers related to epileptogenesis in addition to impairment of brain development.

Adolescent↗
PubMed2005

Tuberous sclerosis complex and the ketogenic diet.

PURPOSE: Tuberous sclerosis complex (TSC) is a condition that is frequently associated with intractable, early-onset epilepsy, and often is first seen as infantile spasms. If medications fail and no clear epileptogenic tuber is identified, nonpharmacologic therapies are often attempted. The use of the ketogenic diet specifically for children with TSC and epilepsy has not been previously described. METHODS: A chart review was performed of patients with TSC treated with the ketogenic diet over a 5-year period at Johns Hopkins Hospital and Massachusetts General Hospital. RESULTS: Twelve children, ages 8 months to 18 years, were identified. Eleven (92%) children had a >50% reduction in their seizures at 6 months on the diet, and 8 (67%) had a >90% response. Five children had at least a 5-month seizure-free response. Diet duration ranged from 2 months to 5 years (mean, 2 years). CONCLUSIONS: In this limited-duration case series of 12 patients, the ketogenic diet was a generally effective therapeutic modality for the intractable epilepsy occasionally seen in children with TSC.

Adolescent↗
PubMed1997

Odontogenic myxoma in an adolescent with tuberous sclerosis.

Tuberous sclerosis is a hamartoneoplastic syndrome characterised by early onset of convulsive seizures with mental retardation. Oral abnormalities, including enamel hypoplasia and mucosal fibromas, have been previously reported. We report here a 17-year-old girl with this disorder who had received repeated dental trauma. She presented with a swelling associated with a traumatised maxillary central incisor that suggested a diagnosis other than the odontogenic myxoma found at operation. Odontogenic myxoma has not previously been reported in this condition; it may represent an unusual phenotypic expression of the genetic defect understood to determine tuberous sclerosis, or it may be an unrelated coincidental finding.

Adolescent↗
PubMed1996

The natural history of cardiac rhabdomyoma with and without tuberous sclerosis.

The aim of the present study is to contribute to the knowledge of the natural history of cardiac rhabdomyoma in children with and without tuberous sclerosis. In a retrospective study, 33 children with cardiac rhabdomyoma were collected from three pediatric cardiology centres. In 30/33 patients tuberous sclerosis was associated. High prevalence of cardiac rhabdomyoma was found in infancy, with 21/23 detected before the age of 1 year, and 11/33 before 1 month of age. Cardiac manifestations were present in 19 patients: cardiac rhythm disturbances were detected in 13; in 6/33 a Wolff-Parkinson-White syndrome was documented, of which 4 presented paroxysmal arrhythmias. Obstructive or regurgitative phenomena were present in 5; and in 2 patients surgical removal proved necessary. With the exception of one tumoural mass in the right atrium, all 77 tumours were located somewhere in the ventricles, including at atrio-ventricular valve level. Because of spontaneous regression of most of the tumoural masses, treatment should at first be symptomatic, while surgical removal is required only in life-threatening conditions, as documented in 2 of our 33 patients.

Arrhythmias, Cardiac↗
PubMed1991

Renal involvement in tuberous sclerosis.

TSC in the kidney is expressed principally as renal cysts and angiomyolipomas. Both abnormalities may occur separately or together, and both are commonly multiple and bilateral. Cystic disease is sometimes so severe as to be confused with polycystic kidney disease, although the histopathologic findings are practically diagnostic of TSC. Severe cystic disease causes renal insufficiency; large angiomyolipomas predispose to life-threatening hemorrhage. Renal malignancies have been reported in what appears to be a significant number of patients. We hypothesize that the renal abnormalities result from cell hyperplasia and hypertrophy, much like the other abnormalities of tuberous sclerosis, such as cerebral tubers and cardiac rhabdomyomas. The renal abnormalities can therefore be regarded as an expression of the TSC gene, and their recognition as such carries importance for treatment and counseling.

Carcinoma, Renal Cell↗
PubMed1978

Depigmented hair. The earliest sign of tuberous sclerosis.

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.

Hair Color↗
PubMed1996

Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis.

A mother and daughter with an initial diagnosis of tuberous sclerosis are described. The daughter presented with partial seizures at the age of 8 months. Computed tomography showed uncalcified periventricular nodules which on magnetic resonance imaging were ovoid, almost contiguous, of grey matter density, and did not enhance with gadolinium. Brain imaging of her asymptomatic mother was similar. Absence of severe mental retardation, extracranial hamartomas, and depigmented patches distinguishes familial bilateral periventricular nodular heterotopia (FNH) from tuberous sclerosis. FNH is probably inherited as an X linked dominant with lethality in males.

Adult↗
PubMed1998

Tuberous sclerosis complex and Wolff-Parkinson-White syndrome.

This report highlights the association between tuberous sclerosis and Wolff-Parkinson-White syndrome. Ten patients with concurrent diagnoses of Wolff-Parkinson-White syndrome and tuberous sclerosis were identified. Wolff-Parkinson-White syndrome presented early in life, nine cases being diagnosed in the first year. Eight of the 10 cases were male. In eight cases, the syndrome was associated with supraventricular tachycardias, and in nine with cardiac rhabdomyomata. One child died from cardiac failure secondary to obstruction of the left ventricular outflow tract by a rhabdomyoma. Five of nine survivors showed resolution of Wolff-Parkinson-White syndrome on follow up. The accessory pathway was localised in nine patients from surface electrocardiograms: six children had left sided pathways and three had right sided pathways.

Electrocardiography↗
PubMed1985

Prolonged use of nitrazepam for epilepsy in children with tuberous sclerosis.

A case note study of 90 children with tuberous sclerosis showed that 56 had taken nitrazepam for seizures for from one month to 13 years. In 38 children nitrazepam was withdrawn but only two had immediate major seizures. Given that sleepiness, deterioration in motor skills, or ataxia seems to be associated in some children with treatment with nitrazepam, doctors may wish to review their long term prescriptions of this drug in children with tuberous sclerosis.

Adolescent↗
PubMed1985

The heart and tuberous sclerosis. An echocardiographic and electrocardiographic study.

Cross sectional echocardiography, 12 lead electrocardiography, and 24 hour ambulatory electrocardiography were performed in eleven patients with tuberous sclerosis. Echocardiography showed single or multiple intramyocardial masses, most commonly in the ventricular septum, suggestive of rhabdomyomata in seven of the eleven cases. One patient with a normal echocardiogram showed ventricular pre-excitation on electrocardiography, with tachycardias of 180 beats per minute on ambulatory monitoring. Sinus bradycardia, sinus tachycardia, and supraventricular tachycardia were also seen, but their importance is uncertain. Echocardiography and electrocardiography should be routinely performed in the assessment of patients with tuberous sclerosis and ambulatory electrocardiography should be considered in those with seizures that respond poorly to anticonvulsants.

Adolescent↗
PubMed1984

Tuberous sclerosis: unusual associations in four cases.

Tuberous sclerosis is a rare disease with classic primary or secondary changes affecting mainly the cerebrum, skin, kidneys, and heart. Such lesions are generally hamartomatous and thus display malignant features only in rare cases. This paper describes four cases of tuberous sclerosis which were unique in their association with certain unusual congenital, metabolic, and tumorous conditions.

Adult↗
PubMed1984

Tuberous sclerosis: a new estimate of prevalence within the Oxford region.

Within the counties administered by the Oxford Regional Health Authority (population 2 328 100) the prevalence of tuberous sclerosis was estimated as 1 in 29 900 for persons under 65 years of age. For the population below 30 years of age the prevalence was 1 in 21 500 and for children under 5 years 1 in 15 400. Cases were ascertained through the records of the Department of Medical Genetics at Oxford and the Tuberous Sclerosis Association of Great Britain and also by a questionnaire sent to selected consultants within the region. A previous estimate of prevalence within the region was 1 in 100 000. This study suggests that the prevalence at birth might be even higher than 1 in 15 000.

Adolescent↗
PubMed1989

Genetic aspects of tuberous sclerosis in the west of Scotland.

Complete ascertainment of tuberous sclerosis was attempted in the west of Scotland (population 2,763,000). A total of 101 patients was identified, giving an overall minimum prevalence of 1 in 27,000, but for children under 10 years of age the minimum prevalence was 1 in 12,000. Both parents of 84 of the ascertained cases were assessed for signs of tuberous sclerosis. In 51 pairs of parents no evidence of the condition was seen, indicating that up to 60% of the cases were new mutations. The mutation rate was estimated at 2.5 X 10(-5) mutations per gene per generation. Analysis of parental ages for the new mutations did not show a significant age effect. Thirty-five patients occurred in 13 families containing other affected subjects. The pattern of inheritance was consistent with an autosomal dominant trait in these families. In one sibship, non-penetrance or gonadal mosaicism resulted in affected sibs with normal parents. Of two further sibships where non-penetrance was suspected, one was shown to represent a single new mutation in monozygotic twins and the other to involve non-paternity.

Adult↗
PubMed1990

The value of investigation for genetic counselling in tuberous sclerosis.

Forty sets of parents and 24 sibs of patients with tuberous sclerosis were investigated by an extensive protocol, including clinical examination of skin, hair, and oral cavity, direct and indirect ophthalmoscopy, cranial CT scan, renal ultrasound, and a radiological skeletal survey. None of the clinical examinations provided evidence that any of the subjects was affected. Similarly, the cranial CT scan, renal ultrasound, and skeletal survey failed to identify any occult gene carriers. All of these investigations showed abnormalities in some parents but none was diagnostic. This study shows the difficulties in interpretation that these investigations may produce with consequent problems for genetic counselling. The study does not support the routine use of these tests. There are published reports where the diagnosis of tuberous sclerosis has been made in adults exclusively on a CT scan and an argument can be made for including this investigation. There is no indication for performing renal ultrasound nor skeletal x rays in parents who have normal clinical examinations.

Brain↗
PubMed1991

Non-penetrance in tuberous sclerosis.

Non-penetrance has not been reported in tuberous sclerosis when modern non-invasive investigations have been performed. We report a four generation family in which there was a subject with minimal expression and another with non-penetrance between a great grandfather and his great grandson. This situation highlights the need for full investigation of children of tuberous sclerosis patients before counselling a low recurrence risk for the disease.

Adult↗