Cases reported "Tuberous Sclerosis"

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1/9. 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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2/9. Immunocytochemical studies on a fetal brain of tuberous sclerosis.

    A female stillborn baby was delivered at 36 weeks' gestation. There were rhabdomyomas in the heart, multi-cystic kidneys, and tubers in the brain. Neuropathologic examination of the brain tissue revealed typical giant cells in the sub-ependymal nodules, cerebral white matter, and cortex. On immunocytochemical staining, the giant cells stained positively with antisera to glial fibrillary acidic protein (GFAP), myelin basic protein (MBP), and neuron-specific enolase (NSE). The giant cells as well as adjacent glial cells with small eccentric nuclei contained both MBP and GFAP. Both cell types combined immunocytochemical characteristics of astrocytes and oligodendrocytes. There were also intermediate-sized cells found among giant cells and germ cells in subependymal nodules. In white matter nodules, similar intermediate-sized cells were found among giant cells and glial cells with small eccentric nuclei. Therefore, giant cells as well as glial cells with small eccentric nuclei may be multi-potential and may result from abnormal patterns of maturation.
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3/9. tuberous sclerosis: a neuropathological and immunohistochemical (PAP) study.

    Clinical, neuropathological, and immunohistochemical (PAP) findings are reported in a 7 month-old girl with tuberous sclerosis (TS). Polycystic kidneys and massive cardiomegaly constituted the prominent pathological features. The neuropathology of the syndrome was characterized by Megalencephaly, Subependymal giant cell astrocytoma, Very large protoplasmic astrocytes in Golgi-rapid method preparations of cortical tubers and glial fibrillary acidic protein (GFAP)-negative giant cells in the subependymal nodules as well as in the cortical tubers. The identity of these giant cells is discussed.
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4/9. glial fibrillary acidic protein in tuberous sclerosis.

    We examined two cases of tuberous sclerosis for the presence of glial fibrillary acidic protein (GFAP) using the immunoperoxidase technique. The majority of abnormal giant cells in the cerebral cortex showed no reaction to anti-GFAP. Some abnormal cells in the cortical tuber and white matter showed a weak positive reaction. All of the subependymal tumor cells showed no GFAP in their cytoplasm. The abnormal giant cells in tuberous sclerosis, morphologically similar to gemistocytic astrocyte, are not accompanied by antigenic properties of GFAP.
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5/9. Astrocytic tumors of the retina. Differentiation of sporadic tumors from phakomatosis-associated tumors.

    A single, 1.3-cm, intraocular tumor, composed of interlacing, spindle-shaped astrocytes, involved the retina and optic disc of a 13-month-old girl. Neither the patient nor her family had stigmas of a phakomatosis. We found 42 previous cases of histologically documented astrocytic tumors of the retina. Twenty-four patients (57%) had tuberous sclerosis, six patients (14%) had neurofibromatosis, and 12 patients (29%) were otherwise normal. patients with tuberous sclerosis usually had multiple, peripheral, retinal tumors containing giant "astrocytes." patients with neurofibromatosis and otherwise normal patients more frequently had disc-based tumors. However, three patients (50%) with neurofibromatosis had multiple tumors, whereas multiplicity occurred in only one of the patients in the sporadic group. We conclude that if the tumor is single, is disc based, and lacks giant cells, the patient is not at great risk of tuberous sclerosis.
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6/9. spinal cord lesions in tuberous sclerosis.

    spinal cord involvement is not widely recognized as part of the tuberous sclerosis complex. Necropsy study of the spinal cord from 2 patients revealed abnormalities in both. These consisted of clusters of abnormal fiber-forming astrocytes in gray and in white matter, bizarre giant glial forms in white matter in one patient, and neuronal loss. Myelin sheaths in subpial zones were also swollen and slightly fragmented in one patient. Reports of similar studies are sparse. Some investigators have also noted glial proliferation and white matter changes, although the latter most likely represented wallerian degeneration.
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7/9. Abnormal dendritic patterns and aberrant spine development in Bourneville's disease--a Golgi survey.

    Few reports have dealt with the structural abnormalities shown by the neuropil in mentally retarded patients. This Golgi study describes the morphologic changes observed in a brain biopsy from the cerebral cortex of a patient with Bourneville's disease (epiloia). At the time this study was made, the patient was 12 years old and had had a long history of mental retardation and uncontrollable seizures. She, her father, and three other siblings had classic cutaneous signs of epiloia. A biopsy from the right frontal cortex was immediately fixed by immersion, was processed by both H & E and the Golgi method respectively, and examined by electron microscopy. The Golgi-stained material showed a marked fibrillary gliosis at the upper and lower cortical layers, as well as in the heterotopias; the presence of giant cells, closely resembling immature pyramidal cells, with short dendrites growing from their somata and bearing few spines; some other large cells having features compatible with astrocytes; spiral-like glial processes converging upon distorted apical dendrites; these and some other neuronoglial formations establishing specialized anatomical contacts; unorderly arrangement of small and large pyramids within an abnormally compact cortex; abnormal dendritic growths at the level of dendrite bifurcations; and several aberrant patterns of spine morphology, including the megaspine. This first application of the Golgi method to the study of neuropathologic features of epiloia suggests that a poorly developed neuronal circuitry led to the abnormal brain function observed in this case. The same anatomical substrate may occur in other cases of mental retardation.
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8/9. tuberous sclerosis in an infant of 28 weeks gestational age.

    A case of tuberous sclerosis diagnosed at autopsy in a neonate at 28 weeks gestation is described. This is believed to be the earliest case yet reported. The CNS lesions consist of cortical tuberosities, heterotopic white matter nodules and subependymal nodules. These nodules consist predominantly of giant astrocytes but a small undifferentiated cell component is present as well. Multiple cardiac rhabdomyomas are also present. An explanation for neuronal hypocellularity within the cortical tuberosities is suggested.
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9/9. Ultrastructure of tuberous sclerosis: cortical tuber and subependymal tumor.

    Ultrastructural examination of two biopsy cases of tuberous sclerosis, a subependymal tumor and a cortical tuber, revealed giant cells with astrocytic features in both cases. These included multipolar processes containing glial filaments, glycogen, and membrane-bound dense bodies, as well as formation of hemidesmosomes with pia and vascular basement membranes. Megamitochondria were also seen within glial processes. In addition to the numerous glial-glial contacts encountered in both cases, rare neuroglial junctions suggesting aberrant synapse formation were observed within the cortical tuber. This observation, in concert with the organization of multiple small neurites along large, aberrant astrocyte processes found within the tuber, mimics features of neuroembryonic development described in lower mammals and nonhuman primates. Such a parallel in ultrastructural morphology supports a primarily dysplastic nature for the lesions in tuberous sclerosis.
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