Innumerable Meningiomas Arising in a Patient With Tuberous Sclerosis Complex Decades After Radiation Therapy.

Meningioma is the most common radiation-induced brain neoplasm, usually occurring after a latency of 20 - 35 years, with multiplicity in 10% of cases. Radiation-induced meningiomas (RIMs) have not previously been reported in patients with tuberous sclerosis complex (TSC), unlike their well-known occurrence in other familial tumor predisposition syndrome patients. We report a TSC patient who developed numerous intracranial meningiomas twenty five year after radiation therapy for subependymal giant cell astrocytoma (SEGA). Autopsy examination showed innumerable, coalescent, benign, meningothelial meningiomas, WHO grade 1, ranging in size from 0.2 cm to 3.3 cm. Autopsy also showed small residual SEGA, radiation-induced cerebral vasculopathy, and classic TSC features including several small subependymal nodules ("candle gutterings"), white matter radial heterotopia, facial angiofibromas, dental enamel pitting, one ash leaf spot, and multiple hepatic and renal angiomyolipomas. Next-generation sequencing analysis utilizing a 500+ gene cancer panel demonstrated chromosomal loss involving the majority of chromosome 22, including the NF2 gene locus, as well as a truncating nonsense mutation in TSC1 p. R509*. While TSC patients rarely require radiation therapy, this striking case suggests that patients with TSC should be monitored closely if cranial therapeutic radiation is administered.

Glioblastoma following radiotherapy in a patient with tuberous sclerosis.

A 26-year-old male with tuberous sclerosis developed a glioblastoma in the right temporal lobe 8 years after surgical excision and irradiation of a subependymal giant cell astrocytoma. The glioblastoma was probably an irradiation-induced tumor. Irradiation should not be given routinely for subependymal giant cell astrocytoma.

Tuberous sclerosis in infancy.

PURPOSE: To report two infants with tuberous sclerosis who initially were considered to have retinoblastoma. PATIENTS AND METHODS: An 8-day-old infant was referred with small tumors in the posterior poles of both eyes. A left microphthalmos with ciliochoroidal coloboma was present. Computed tomographic (CT) scanning of the brain showed scattered high-density subependymal foci in the lateral ventricle thought to be consistent with calcification resulting from intrauterine viral infection. Argon laser photocoagulation was applied to lesions in the right eye. Because one tumor was situated on the retina straddling the coloboma in the left eye, external beam radiotherapy was administered. A 5-month-old girl presented with a large mass in a left microphthalmic eye. Calcification was present on B-scan ultrasonography and CT scanning. Vitreous seeding was noted to originate from the tumor. The contralateral eye manifested four small gray translucent retinal tumors in the posterior pole. CT scan and magnetic resonance imaging (MRI) revealed multiple periventricular subependymal lesions, including one at the foramen of Monro. RESULTS: Repeated examinations in the younger child under anesthesia revealed small new retinal lesions that appeared to enlarge gradually. She developed intractable seizures and her electroencephalogram revealed a modified hypsarrhythmia recording. A careful review of available CT scans and MRI displays suggested the diagnosis of tuberous sclerosis. The child's most recent examination under anesthesia revealed multiple newly developed hamartomas. In the older child, prompt diagnosis was made on the basis of the intracranial radiologic findings. CONCLUSION: Retinal hamartoma presentation may vary in infancy. Small, initially fleck-like gliotic lesions appear to enlarge gradually and eventually may form gray, translucent tumors. Large astrocytic hamartomas of the retina associated with tuberous sclerosis may resemble retinoblastoma, particularly if the mass is large, calcified, and associated with vitreous seeding. Although ophthalmic presentation was reminiscent of retinoblastoma in both patients, radiologic evidence of subependymal hamartomas pathognomic for tuberous sclerosis helped establish the correct diagnosis. We stress the importance of intracranial radiologic findings in this regard.

[Pringle-Bourneville disease]. / Bolezn' Pringla--Burnevilia.

A patient suffering from this disease is described, who developed it at the age of 30. Besides eruptions, the condition is characterized by central nervous system shifts. A promising effect of laser therapy is of interest in this case.

Thalamic tumors in children. Long-term follow-up and treatment guidelines.

The authors review the cases of 60 children (aged 5 months to 18 years) with thalamic tumors who were seen at The Hospital for Sick Children between 1951 and 1983. The diagnosis of thalamic tumor was based on neuroradiological studies; 33 children were first seen in the pre-computerized tomography (CT) era and 27 since the advent of CT scanning. Histological diagnosis was obtained in 37 patients at the time of operation. A further four tumors were verified histologically at autopsy. Thirty-six patients required cerebrospinal fluid shunt placement. Sixteen patients had no surgery on their tumor, three underwent needle biopsy, 20 underwent open biopsy, and 21 had partial resection. Forty-four patients were irradiated. All 20 patients with malignant tumors died, with a mean survival time of 1.1 years. Of 19 patients with benign tumors, 11 died, with a mean survival time of 5.3 years, and eight are still alive after a mean period of 7.2 years since diagnosis. Based on this series, the authors recommend open biopsy of thalamic tumors (and resection if deemed safe), followed by radiation in selected cases.