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We describe a patient with tuberous sclerosis and an insulinoma. The neurologic abnormalities typically present in patients with tuberous sclerosis may, in rare cases, be manifestations of hypoglycemia. We discussed a possible association between tuberous sclerosis and multiple endocrine neoplasia type I.
We report two cases of solitary cortical tubers not associated with tuberous sclerosis and having an appearance simulating neoplasm in two patients presenting with seizures. CT showed solitary, hyperdense frontal lobe lesions in both patients. MR revealed a lesion hyperintense on both T1- and T2-weighted images in one patient and a heterogeneous mass with a target appearance in the other. Histologically, the lesions were consistent with cortical tubers.
Tuberous sclerosis (TS) is a rare congenital disease characterized by proteiform symptoms that effect the skin and the central nervous system. Occasionally morphofunctional anomalies of other organs such as the kidneys, lungs and heart are present. The clinical picture of the illness varies among patients, and diagnosis is based primarily on cutaneous or nervous system manifestations. During the last ten years, however, some cases of prenatal diagnosis have been reported. The literature reports very few cases of tuberous sclerosis with arrhythmias as the initial symptom. The case described refers to a newborn who presented with supraventricular arrhythmias, refractory to the common antiarrhythmic drugs; a subsequent M-mode and two-dimensional echocardiogram showed a small roundish mass in connection with the chordae tendinae of the mitral valve (rhabdomyoma). We initially diagnosed TS based on the appearance of achromic smooth spots of the skin. The onset of convulsions and a CAT scan that identified numerous calcified endocerebral nodules confirmed the diagnosis of tuberous sclerosis.
Tuberous sclerosis is a rare disease of autosomal dominant inheritance and may affect any organ, and less than 2% have a subependymal giant cell astrocytoma. In the present report, a 6-year-old girl with clinical features of tuberous sclerosis had an intraventricular tumor. CT scan and MRI of brain showed a tumor in the lateral ventricles extended into the Foramina of Monro and third ventricle causing severe hydrocephalus. She underwent left frontal craniotomy with partial removal of the tumor. The pathology was subependymal giant cell astrocytoma. Patient's neurological condition improved postoperatively and postoperative CT scan showed no hydrocephalus. Clinical and radiological follow-up of patients with tuberous sclerosis who had subependymal nodules in early childhood is important due to its possibility of subsequent transformation into intraventricular tumor.
A 37 year-old patient with tuberous sclerosis and renal failure had renal transplantation performed, after 21 months of hemodialysis treatment and cerebral glioma removal, with good results 7 years later. In order to assess renal transplantation as a treatment for end-stage renal failure of tuberous sclerosis, we have reviewed the literature. 14 observations could be analysed: the patients were young with a mean age of 29.2 years, women in majority, with minor neurologic involvement. Because of the risks of neoplastic transformation and angiomyolipoma bleeding, bilateral nephrectomy is cautious, before or during the renal transplantation. Otherwise a close monitoring of the native kidneys by CT-scan is necessary. So the patients with tuberous sclerosis are good candidates for renal transplantation, with the same results as other patients of the same age, with no aggravation of the neurologic disorders, even when a cerebral tumor has been removed, as in our case.
A 30-year-old man had signs of a lumbosacral skin plaque, called "shagreen patch", and mental retardation. He had been treated as genuine epilepsy for more than twenty years. Neither significant abnormalities nor facial angiofibroma (adenoma sebaceum) were detected on physical and neurological examinations. Brain CT revealed calcified subependymal nodules. A T2-weighted brain MRI presented high signal intensity regions affecting the cerebral cortex, which suggested tuberous lesions. Echocardiography showed high echoic lesions on the left ventricular wall and papillary muscles, suggesting calcification. The case was diagnosed as suffering from "forme fruste" of tuberous sclerosis. The three criteria typical of tuberous sclerosis (facial angiofibroma, seizure and mental retardation) were not satisfied. The "forme fruste" variant is less known, because the pattern of involvement varies, and it may clinically simulate genuine epilepsy.
Tuberous sclerosis is a neurocutaneous disease characterized of mental retardation, facial fibroangiomas, hypochromic stain and seizures. Is presented a case of a newborn that in the third day of life presenting seizures and in the physical exam show hypochromic CT scans irregular of 3-10 mm in thorax and limbs. The seizures presented during hospitalization were tonics, it was need treatment with three anticonvulsants for the control; the parents studies were normal. Magnetic resonance showed characteristic images of this pathology like nodular subependymal lesions, hyperintense, in lateral ventricles and a cortical tuberous lesion in the right frontal region. Tuberous sclerosis has a dominant autosomic transmission; the defect is in the chromosome 9, the prenatal diagnosis is not possible and 50-80% the of case are mutations. Affect a different organs as skin, eyes, heart, brain, kidney, bone and lung. The prognostic is variable and death is caused for epileptic state, brain tumor, heart failure, renal or intercurrent infection. The magnetic resonance imaging is the landmark study for diagnosis of this pathology of ample use in the present.
Two patients with pulmonary affections in the course of neurofibromatosis and tuberous sclerosis are presented. We wanted to draw attention to the possibility of occurrence of diffuse interstitial pulmonary changes during congenital neurocutaneous syndromes, of which no data are reported in our literature. The affection of the lungs in 10-20% of the patients with neurofibromatosis and 1% with tuberous sclerosis is estimated, commonly in women. The most frequent changes in neurofibromatosis are fibrosing alveolitis and interstitial fibrosis, and in tuberous sclerosis cystic lung changes and lymphangiomyomatosis, what agrees with our findings. It is important to recognize such patients in order not to perform unnecessary diagnostic procedures, and not to draw wrong conclusions, thus being able to avoid an unnecessary therapy, ineffective in such cases. The patients should be followed up, and in the case of complaints symptomatic therapy has to be administered.
Two cases pulmonary lymphangioleiomyomatosis and tuberous sclerosis with pulmonary involvement were presented. Clinical picture of both diseases was similar. Breathlessness was the main symptom of lymphangioleiomyomatosis and there were signs of chylothorax. Chest x-ray interstitial changes disseminated in both lungs. High resolution computer tomography showed numerous cysts in both lungs. Proliferation of smooth muscle bundles was found in lung biopsy. Main symptoms of tuberous sclerosis were breathlessness on exertion and recurrent pneumothorax. Changes in chest x-ray, CT and lung biopsy were similar to found in lymphangioleiomyomatosis. Diagnosis of tuberous sclerosis was based on typical extrapulmonary signs and symptoms.
The diagnosis of tuberous sclerosis in an infant was delayed by 3 months. Failure to take an adequate patient history because of a language barrier between parents and caregivers and to observe the classic stigmata of tuberous sclerosis contributed to the delay. A brief review of the case and the diagnosis of tuberous sclerosis is presented.
Observation's analysis of 5 children in age from 9 months to 4 years 11 months with tuberous sclerosis was performed. The initial manifestations of disease were following: early children form of epilepsy exactly infantile spasms (West syndrome) appearance, dermal alterations in the form of depigmented spots as well as nonprogressive delay in psychoverbal development. Together with clinical symptoms the main criterion in early form of tuberous sclerosis diagnosis determination turned out to be brain's specific alterations (tubers) which were revealed by computer tomography. The correlation was observed between epileptic seizures polymorphism and frequency as well as brain's morphological alterations. Derivatives of valproic acid were the basic drugs in treatment of epileptic seizures in patients.
Tuberous sclerosis is an autosomal dominant disease characterized by the development of multiple hamartomas which involve mainly the skin, the brain, the kidneys, and the heart. Vascular involvement is uncommon, with essentially several reports of aortic aneurysm. The present case concerns a two and a half year-old girl with known tuberous sclerosis, who underwent a graft replacement of an abdominal aortic aneurysm revealed by hypertension, associated with a right nephrectomy for multiple renal angiomyolipomas and cysts. Microscopic examination of the aortic aneurysm and the right renal artery showed fibromuscular dysplasia. This case and the rare previous reports emphasize the possible vascular involvement in tuberous sclerosis, and suggest that arterial fibromuscular dysplasia may represent an additional manifestation of the disease.
The relationship between tuberous sclerosis and renal angiomyolipoma of the kidney is widely recognized, but the association of bilateral renal angiomyolipoma with renal cell carcinoma in tuberous sclerosis is extremely rare. Our case seems to be the 5th case reported in Japan. We report here a case of bilateral angiomyolipoma and renal cell carcinoma of the right kidney with tuberous sclerosis.
Ten patients (5 male, 5 female, mean age: 29.4 years) with tuberous sclerosis were investigated for gastrointestinal polyps. Three had adenomatous colonic polyps, one had a single duodenal hamartomatous polyp and the fifth a hyperplastic gastric polyp. This high prevalence (50%) should put the gastro-intestinal investigation as a useful test in the diagnosis of tuberous sclerosis, particularly in the incomplete varieties of disease. Conversely, tuberous sclerosis should be considered in the differential diagnosis of digestive polyposis.
The authors describe clinical course of tuberous sclerosis in seven family members from two pedigrees. They stress the importance of careful medical anamnesis and skin examination in family members of persons affected with tuberous sclerosis. It is pointed out that in contrast to widespread stereotype of a patient with tuberous sclerosis-a person with epilepsy, mental retardation and multiple skin and organ involvement, much more common than it was previously thought, the course of the disease may be oligosymptomatic and the affected person may properly function in society. All 7 affected persons presented in the paper were mentally normal and only two of them suffered from epilepsy.
Tuberous sclerosis (TSC) is an autosomal dominant syndrome that is linked to two genetic loci: TSC1 (9q34) and TSC2 (16p13). Brain manifestations such as cortical tubers and subependymal hamartoma/giant cell astrocytomas are major causes of TSC-related morbidity. In this study, we describe the central nervous system involvement in a unique rodent model of tuberous sclerosis. The Eker rat carries a spontaneous germline mutation of the TSC2 gene and is predisposed to multiple neoplasia. In a series of 45 adult Eker carriers (TSC2 +/-), three types of focal intracranial lesions were found, of which the subependymal and subcortical hamartomas were most prevalent (65%). There exist remarkable phenotypic similarities between the Eker rat and human subependymal lesions. Our study indicates that the predominant cellular phenotype of the subependymal hamartomas is astroglial and suggests that the neuronal contribution within these lesions is, in part, the result of pre-existing myelinated axons. The hamartomas did not show evidence of loss of the wild-type TSC2 allele; it remains to be determined whether TSC2 inactivation is necessary for their pathogenesis. This genetically-defined rodent model may be useful in elucidating the molecular and developmental basis of the subependymal giant cell astrocytoma in humans.
OBJECTIVE: To report a case of unilateral cystic disease in a neonatal kidney as the first manifestation of tuberous sclerosis, with special reference to the diagnostic difficulties. METHODS: The pathological and clinical features of unilateral cystic kidney disease, which was basically segmental, are described. This condition had been detected in a newborn at physical examination. RESULTS: The pathological findings of the kidney cysts were characteristic of tuberous sclerosis, which allowed us to rule out a renal tumor. The clinical course confirmed the histological diagnosis. CONCLUSIONS: The reported cases of bilateral cystic kidney disease as the first manifestation of tuberous sclerosis are few and only one case with unilateral involvement has been reported in the English literature. In the case described herein, biopsy proved to be very useful in the diagnosis of the disease since the kidney cysts had specific histological features.
Cardiac rhabdomyomas are frequent in association with tuberous sclerosis and they are the first symptoms of Bourneville disease in fetal and neonatal period. Clinical findings of cardiac rhabdomiomas are quite heterogeneous: asymptomatic, cardiac murmur, cardiomegaly, heart failure or arrhythmias. Echocardiography can determine site, dimensions, numbers and haemodynamic consequences of cardiac tumours and their clinical evolution at follow-up. In this study the Authors report clinical findings in 9 cases of cardiac rhabdomyomas in newborn infants: 3 has familiarity for tuberous sclerosis and two of these had prenatal echocardiographic diagnosis; in the other 6 cases diagnosis was casual (1 in fetal period). All patients with prenatal diagnosis were asymptomatic. In other cases 1 had extrasystolic arrhythmias and five had only cardiac murmurs. Echocardiographic follow-up (6 months to 5 years) showed regression of number and dimension of cardiac masses in all cases. In 7 cases cardiac rhabdomiomas were associated with tuberous sclerosis.