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Tuberous Sclerosis Complex is the second commonest phakomatosis affecting between 1 in 70,00-10,000 live births. It is a multisystem disorder but neurological disturbances are often the presenting feature and cause major morbidity/mortality. In this paper the neuroradiological and clinical features are reviewed, focusing on a rational approach to imaging children with tuberous Sclerosis Complex.
The relatively rare neurocutaneous syndromes may produce neurological symptoms during childhood. After closure of the fontanelle, the radiological methods of choice are CT and MRT. The value of these two methods is demonstrated by twelve examples (eight neurofibromatoses, four tuberous scleroses). CT is superior to MRT in being able to show calcification; it is therefore the method of choice for tuberous sclerosis. On the other hand, MRT may show foci of neurofibromatosis; these can hardly be seen on CT. In order to show cerebral lesions in these two conditions, T2-weighted sequences are necessary.
On the basis of detection of cardiac tumours and an intracerebral subependymal mass, the diagnosis of tuberous sclerosis was made in a fullterm neonate. To evaluate cerebral metabolism cerebral mass proton magnetic resonance spectroscopic imaging (1H-MRSI) was performed. A local decrease in N-acetyl-aspartate (NAA), and an increase in choline signals were found. Lactate could neither be demonstrated in the subependynal nodule, nor in the surrounding tissue, thereby rendering the possibility of a high-grade malignant tumour less likely. No major changes were found at 3 and 6 months of age. The present study demonstrates, that 1H-MRSI may be helpful in metabolic evaluation of cerebral masses in patients with tuberous sclerosis.
Tuberous sclerosis has many forms of clinical presentation. Rarely, multiple facial angiofibromas of unilateral distribution have been reported. We describe 2 patients with such a presentation and hypothesize that this is a mosaic form of tuberous sclerosis.
Tuberous sclerosis is a rare genetic disease with protean clinical manifestations. The lesion most commonly described in the lung is lymphangiomyomatosis. There have been recent reports of multifocal micronodular pneumocyte hyperplasia, as well as a single case documentation of a clear cell tumor of the lung, in patients affected by the disease. We detail a case of a female Chinese patient with tuberous sclerosis who was incidentally discovered to have bilateral pneumothoraces. The open lung biopsy revealed combined histological features of multifocal micronodular pneumocyte hyperplasia, lymphangiomyomatosis and clear cell micronodules.
A case of antenatal tuberous sclerosis was diagnosed by ultrasonography. Intracardiac tumour (highly suspected rhabdomyoma) with transitory heart failure and multiple brain lesions were observed. After delivery, echocardiography, spiral CT and MR imaging diagnosis of tuberous sclerosis was confirmed by typical skin lesions (depigmented macules) and development of seizures.
A case of multifocal micronodular pneumocyte hyperplasia (MMPH) associated with tuberous sclerosis is reported. MMPH is a rare pulmonary disorder characterized by the nodular proliferation of type II pneumocytes. In the case presented here, MMPH appeared as multiple, well-defined small nodules with ground-glass opacity. It is necessary to consider MMPH when small nodules with ground-glass opacity are observed on HRCT in patients with tuberous sclerosis.
We present a male infant with antenatally detected, focal, unilateral apparently isolated renal cystic disease with morphological features of renal involvement in tuberous sclerosis. Only one previous case with similar presentation has been described. Most affected children present with either diffuse bilateral renal cystic disease or extrarenal manifestations. The major genes involved in tuberous sclerosis are now well described, and early onset of severe renal cystic disease in affected children often is related to the presence of a contiguous gene deletion syndrome involving TSC2 and PKD1 on chromosome 16.
The angiofibroma of tuberous sclerosis is associated with a proliferation of dermal spindle cells that have been considered to be fibroblasts on the basis of a variety of techniques, although some cells have a glial appearance. This study of six angiofibromas demonstrated an increase in S100-positive, peanut agglutinin-negative spindle cells in the dermis in addition to increased numbers of epidermal melanocytes. The second major spindle cell population in the dermis proved to be dermal dendrocytes based on their expression of factor XIIIa. The number of these cells decreases in older patients, in whom the lesions were generally less cellular and more fibrotic. The angiofibroma of tuberous sclerosis is a hamartoma involving increased numbers of dermal dendrocytes, neurosustentacular cells, blood vessels, and melanocytes, in addition to collagen.
Tuberous sclerosis complex (TSC) is a multisystem syndrome classically associated with the occurrence of focal brain dysplasias. We used structural magnetic resonance imaging to test for neuroradiological abnormalities in TSC (tubers, white matter lesions, and subependymal nodules) and to explore the relationships between these lesions and computational morphometric abnormalities of gray and white matter distribution. We tested memory function in TSC and investigated the relationship between memory function and both morphometric variation and lesion load. Patients demonstrated deficits bilaterally in volume of subcortical gray matter regions including thalamus, basal ganglia, insula, and cerebellum, as well as white matter deficits bilaterally in intrahemispheric tracts. Morphometric deficits could not be explained as local effects of lesions. Patients demonstrated deficits in executive working memory and recall memory, sparing recognition. Structure-function mapping showed long-term and working memory function was positively correlated with gray matter density (in thalamus, caudate nucleus, and frontal cortex) but not with lesion load. The neuroanatomical endophenotype of TSC is more extensive than previously recognized and comprises abnormalities in the distribution of gray and white matter in addition to classical lesions. Normal intelligence quotient patients with TSC show a profile of long-term and working memory impairment that is related to gray matter deficits in thalamus and basal ganglia components of fronto-striatal circuits.
Renal involvement is common in tuberous sclerosis. Angiomyolipomas and cysts are found in approximately 50 and 30% of patients respectively, and often occur together. Tuberous sclerosis also appears to be associated with a small but increased risk of renal cell carcinoma. Recent studies have begun to elucidate the molecular genetic mechanisms underlying the renal manifestations of this systemic autosomal dominant disorder.
Adenoma sebaceum is a disfiguring facial deformity that constitutes part of the multiple system involvement in tuberous sclerosis. Three affected patients have been treated with carbon dioxide "laserbrasion," which has resulted in a long-lasting improvement without scarring or recurrence. Tuberous sclerosis is described, and the CO2 technique is discussed.
Four patients with a well-established diagnosis of tuberous sclerosis and grand mal type epileptic seizures as their principal clinical symptom were examined by conventional surface electroencephalography (EEG), X-ray computed tomography, and positron emission tomography (PET) using the [18F]-2-fluoro-2-deoxyglucose method. The interictal EEG showed various abnormalities of poor localizing value, but no focal epileptic discharges. X-ray computed tomography demonstrated subependymal calcifications in all cases, although cortical lesions were found only twice. However, in the PET images of each patient one or two localized cortical foci with a metabolic rate for glucose more than 40% lower than in the respective contralateral region were clearly delineated. It may be assumed that those hypometabolic areas represent the epileptogenic cortical tubers, which are characteristic of the disease but usually cannot be detected in vivo by other methods.
Two patients with tuberous sclerosis had multiple semispherical polyps in the large intestine, predominantly in the rectosigmoid colon. These were hamartomas with an excess of smooth muscle fibers in the stroma. In addition, the 21-year-old man had multiple tiny protrusions in the esophagus and oral fibroepithelial polyps. In the 31-year-old woman, who had pulmonary lymphangiomyomatosis with positive estrogen and progesterone receptors, hamartomatous gastric polyps, colonic leiomyoma, and adenomatous rectal polyps were also identified. Our findings suggest that gastrointestinal polyposis may be one of the phenotypes of tuberous sclerosis complex, possibly linking this disease with other hereditary polyposis syndromes.
A patient with tuberous sclerosis presented with cutaneous lesions and chronic renal failure from multiple renal angiomyolipomas and diffuse rena cystic disease, but without apparent significant neurologic involvement. The clinical and pathologic features of tuberous sclerosis, as well as diagnostic and therapeutic procedures useful in this disorder, are reviewed with particular emphasis on the renal features of the disease.
The cause of hypertension in this patient with tuberous sclerosis appeared to be the result of volume expansion due to renal failure. Renal insufficiency was presumably caused by extensive replacement of renal parenchyma with angiomyolipomas, resulting in compression and distortion of the renal parenchyma. Noninvasive imaging techniques were the most useful for characterizing the extent of the disease. It is clearly important to monitor renal function and blood pressure of patients with tuberous sclerosis as they grow older.
PURPOSE: To determine whether pregnancy increases the risk of renal or pulmonary complications in women with tuberous sclerosis complex (TSC). METHODS: We surveyed female members of the Tuberous Sclerosis Alliance and reviewed the files of adult women seen in our genetics clinics for complications of TSC. RESULTS: Among 145 individuals, there was no significant difference in incidence of renal and pulmonary involvement between the pregnant and never-pregnant groups, although there were differences in age at diagnosis (25 vs. 16) and current age (41 vs. 35). There was no significant difference in the rate of renal complications (57% vs. 67%, P = 0.62) or pneumothorax (40% vs. 38%, P = 1.00) for the pregnant and never-pregnant groups, respectively. Pregnancy loss in women with TSC did not differ from population risks. CONCLUSIONS: Pregnancy does not increase the risk of developing renal or pulmonary complications in women with TSC.
Treatment of facial angiofibroma of tuberous sclerosis is problematic, because the skin lesions involve entire dermis. Five patients aged from 14 to 33 (mean: 23.6) years old with angiofibroma of tuberous sclerosis were treated with cultured epithelial autografts between 1995 and 2004. The entire area of the facial lesions was excised using a razor to remove large nodules, and then the remaining lesions were further abraded to a rather deep layer of the dermis to smooth the skin and remove small nodules. Then a cultured autologous epithelium was grafted onto the wound. In all patients, epithelization was complete within 10 (mean: 9) days after the surgery. All patients were followed up for more than 6 months and showed neither depigmentation due to scar formation nor hypertrophic scars. In some patients, some pebbly regrowth had occurred at 5 years postoperatively, but the appearance was quite acceptable.