Cases reported "Tuberous Sclerosis"

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1/77. Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.

    BACKGROUND: tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. OBJECTIVE: Diagnosis can be very difficult in cases with incomplete manifestations (formes fruste) lacking the classic signs of the disease. MATERIALS AND methods: We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma. RESULTS: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, all but one without any clear sign of polycystic kidney disease, were found in the literature. CONCLUSION: We suggest that vascular dysplasias in general and aneurysms (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.
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ranking = 1
keywords = cerebral
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2/77. prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation.

    We report the ultrasound detection of cranial abnormalities at 14 weeks' gestation in a fetus subsequently confirmed as having tuberous sclerosis using dna linkage analysis within the affected family. The presence of asymmetrical ventricular enlargement persisted antenatally. magnetic resonance imaging at 26 weeks indicated the possibility of poor gyral formation consistent with a neuronal migration disorder. Cardiac rhabdomyomata were not visualized on ultrasound scan until 30 weeks' gestation. Postnatal cranial ultrasound confirmed the significant neuropathology which was manifested by severe developmental delay and intractable fits in the child. The potential benefits of earlier diagnosis of tuberous sclerosis by cranial imaging are discussed, although in this patient the routine booking scan resulted in a path of prenatal diagnosis being undertaken which had originally been declined. A mechanism is proposed to explain the variable expression of tuberous sclerosis within this family based on altered TSC2 activity affecting neuronal migration.
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ranking = 4
keywords = cerebral
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3/77. tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.

    A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY, 21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.
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ranking = 0.92479253641458
keywords = ventricle
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4/77. Sudden unexpected death associated with HHV-6 in an adolescent with tuberous sclerosis.

    A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at home 3 days after she had been assessed as doing well at a routine neurology clinic appointment. She had been treated with an antiepileptic drug, felbamate, for 36 months and had been seizure-free except for one seizure episode 5 months before death. Postmortem examination revealed cerebral edema, with uncal and tonsillar herniation, and pulmonary edema, consistent with seizure-induced apnea. Multiple microglial nodules with mature perivascular lymphocytic cuffing and diffuse infiltrates were identified around subependymal tuberous sclerosis giant cell nodules. Immunostaining and electron microscopy revealed human herpesvirus-6-infected macrophages, astrocytes, lymphocytes, and endothelial cells in the subependymal tuberous sclerosis lesions and choroid plexus. Subacute human herpesvirus-6 encephalitis is postulated to have precipitated a seizure and thus sudden unexpected death in epilepsy in this otherwise stable adolescent patient.
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ranking = 1
keywords = cerebral
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5/77. Giant abdominopelvic epithelioid angiomyolipoma associated with tuberous sclerosis: report of a case.

    tuberous sclerosis is a hereditary autosomal-dominant disease characterized by hamartomas that can develop in any organ. We report herein the case of a 34-year-old female with tuberous sclerosis and a huge abdominopelvic mass that started growing quickly 2 years after its diagnosis. The patient had undergone several previous operations for hydrocephalus and cerebral tubers, and a nephrectomy for right renal angiomyolipoma. On admission, she was in poor general health with renal failure, severe anemia, and weight loss. A laparotomy revealed that the tumor occupied the pelvis, the lower and part of the upper abdomen, and was hypervascularized, with an extremely irregular surface covered in nodules, vegetations, and areas of hemorrhagic necrosis. The development of the mass and the impossibility of recognizing the internal genital organs led us to assume that the formation had originated from these. Frozen-section examination indicated an undifferentiated tumor that had not been completely resected. Her postoperative course was complicated by bronchopneumonia and progressive renal failure. The patient died 10 days after surgery due to cardiorespiratory failure. A histological diagnosis of epithelioid angiomyolipoma was confirmed. Although it is presently impossible to determine whether angiomyolipoma with predominant epithelioid cells is more aggressive than typical angiomyolipoma, it definitively demonstrated local aggressive behavior in this patient.
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ranking = 1
keywords = cerebral
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6/77. Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis.

    We report a newborn, diagnosed prenatally with both cardiac rhabdomyomas and a brain tumor. To the best of our knowledge, this is the first report of central nervous system (CNS) lesions detected prenatally in a child with tuberous sclerosis with term follow-up. At 36 months, the child has normal growth and is developing appropriately. Thus the finding of CNS tumors on fetal ultrasound examination can help in the prenatal diagnosis of tuberous sclerosis but does not necessarily indicate a poor prognosis.
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ranking = 4
keywords = cerebral
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7/77. Transposition of the great arteries, pulmonary atresia, and multiple ventricular septal defects associated with multiple cardiac rhabdomyomas in a case of tuberous sclerosis.

    Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis. However, very few cardiac malformations have been described with tuberous sclerosis. We report an unusual case of tuberous sclerosis with cerebral and renal lesions associated with dextrotransposition of the great arteries, pulmonary atresia, patent ductus arteriosus, multiple ventricular septal defects, and parachute mitral valve deformity. After reviewing other cases of congenital heart diseases associated with tuberous sclerosis, emphasis is made on the potential influence of multiple rhabdomyomas developing very early during fetal life on final cardiac structures.
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ranking = 1
keywords = cerebral
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8/77. Childhood autism in tuberous sclerosis.

    The article reports two cases of childhood autism in tuberous sclerosis (TS). Certain atypical features are highlighted. The probands did not show the common seizure types associated with either TS or autism. No ventricular dilatation, cerebral atrophy or temporal lobe involvement was evident. The high prevalence of childhood autism in TS probands with moderate to severe mental retardation has been emphasized.
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ranking = 1
keywords = cerebral
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9/77. MRI spectrum of cortical malformations in tuberous sclerosis complex.

    The diagnostic and prognostic value of magnetic resonance imaging in the tuberous sclerosis complex has increasingly been recognized. In this paper, we review the presumed pathogenesis of the cerebral dysgenesis seen in this condition in the light of magnetic resonance imaging features of selected patients. In addition to typical findings related to tubers, we show and discuss varied cortical malformations (from simple localized cortical dysplasia to transmantle dysplasia and schizencephaly) similar to those seen in sporadic cerebral dysgenesis. These cases support the hypothesis that the tuberous sclerosis complex focally affects the radial glial-neuronal complex as a basic unit for brain development. Abnormal stem cells would create dysplastic glia and neurons that fail to differentiate, proliferate, migrate and form a normally organized cortex.
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ranking = 2
keywords = cerebral
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10/77. Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases.

    The clinical history, neuroimaging features, treatments, and outcome of 4 patients with histologically verified subependymal giant cell astrocytomas (SEGA) were retrospectively reviewed. The average age at the time of surgery was 13.3 years. headache related to raised intracranial pressure was the first and only sign in 2 patients, with the remaining 2 being admitted because of sequential neuroimaging studies over several years revealing the growth of 'subependymal nodules' into intraventricular tumours. In each case the tumour was in the region of Monro's foramen and was associated with ventricular dilatation. On computed tomography (CT), multiple subependymal nodules were found in 3 patients, and these well circumscribed isodense SEGAs were markedly enhanced by contrast medium. On magnetic resonance imaging (MRI), which was obtained in 3 patients, 2 SEGAs were isointense with the cerebral cortex and one with the white matter on T1-weighted images, and on T2-weighted images, 2 were isointense with the cortex and one with the white matter. At surgery the tumours appeared to originate from the inferolateral wall of the lateral ventricle in the region of the head of the caudate nuclei. Total macroscopic removal was achieved in 3 patients, and subtotal removal in one patient. Follow up ranged from 4.6 to 13.2 years, and all patients have exhibited similar physical and mental conditions to preoperative. So far there has been no evidence of any recurrences. The diagnosis and the surgical indications for SEGA are discussed, with periodic monitoring with neuroimaging studies being recommended even for asymptomatic patients with 'subependymal nodules'.
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ranking = 2.4092003260783
keywords = cerebral, ventricle, foramen
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