1/613. Pulmonary lymphangiomyomatosis: three new cases studied with electron microscopy. Three cases of pulmonary lymphangiomyomatosis are described, with emphasis on the ultrastructural changes. The clinicopathologic features corresponded to those previously described. Each patient was a female in the reproductive years; breathlessness and recurrent pneumothoraces were the predominant clinical features. Histologically, the lungs showed a focal interstitial infiltrate of short, spindle-shaped mononuclear cells compatible with primitive smooth muscle, which was associated with irregular emphysema and hemosiderosis. Electron microscopy confirmed the smooth muscle nature of the pulmonary infiltrate and showed the presence of cells intermediate between smooth muscle and fibroblasts. Abnormalities were also noted in the pulmonary connective tissue that are possibly related to the fragility of the lung in this condition. ( info) |
2/613. Dacrystic seizures reconsidered. Ictal lachrymation has not been reported in children as a main seizure manifestation. We report an infant with tuberous sclerosis who presented with seizures characterised by lachrymation without apparent emotional change associated with a left posterior temporal epileptic focus. We discuss the pathophysiological implications, and propose a clinically orientated classification of crying seizures. ( info) |
| Four cases of renal angiomyolipoma are presented, 3 of which were diagnosed in non-tuberous sclerosis patients. In 1 case diagnosis was made preoperatively and in another case it was made intraoperatively, allowing for preservation of functioning renal parenchyma. The second successful kidney transplant in a patient with tuberous sclerosis and renal failure is reported. One cannot always differentiate renal angiomyolipomas from adenocarcinoma. However, if the classical angiographic findings of sacculated pseduo-aneurysms supplied by the interlobular and interlobar arteries are present non-operative observation or limited surgery with preservation of renal tissue is possible. Also, knowledge of the gross pathologic appearance and the syndrome of tuberous sclerosis will allow one to make a preoperative or intraoperative diagnosis with confidence. ( info) |
4/613. Polycystic kidney disease in tuberous sclerosis complex: case report. tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterised by seizures, mental retardation, cutaneous lesions and visceral harmatoma. We describe a 4 1/2-year old boy in whom in addition to the commonly described features of TSC, adult-type polycystic kidneys, a scantily reported occurrence, was an associated feature. ( info) |
5/613. Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. A Japanese patient with tuberous sclerosis (TSC), who manifested with multiple lung cysts and pneumothorax, is described. All exons of two TSC genes, TSC1 and TSC2, in peripheral blood leukocytes from the patient were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). A novel T-to-G transition was found in exon 19 of TSC2 at nucleotide position 2168. This mutation caused an amino acid change, L717R. There was no such mutation in any other family members or in 100 normal Japanese. An automated sequencer-assisted quantitative analysis of normal and mutated SSCP-bands revealed no loss of heterozygosity (LOH) in the lung cyst tissue of the patient. ( info) |
| OBJECTIVE: The authors describe an ocular lesion combining the characteristics of persistent hyperplastic primary vitreous (PHPV) and a retinal tumor in an infant with tuberous sclerosis complex (TSC). STUDY DESIGN: Case report. methods: immunohistochemistry and cytogenetic studies were performed on TSC cells from an intraocular tumor in a 6-week-old infant. RESULTS: Histopathologic examination showed a thick fibrovascular membrane between the aspect of the lens and the astrocytic component of the mass. glial fibrillary acidic protein (GFAP) showed a variable intracytoplasmic reaction in the astrocytic proliferation, involving approximately 50% of the cells. Tissue culture studies showed a fairly rapid proliferation of fusiform cells, consistent with bipolar astrocytic cells. Cytogenetic studies showed one abnormal clone consisting of three hyperdiploid cells with a loss of chromosome 9 and a gain of chromosomes 6 and 12. CONCLUSION: The atypical localization of the retinal tumor could be explained by the fact that it was trapped during its proliferation by the retinal detachment associated with the PHPV. ( info) |
7/613. Invasive giant cell astrocytoma of the retina in a patient with tuberous sclerosis. OBJECTIVE: To report an unusual case of giant cell astrocytoma of the retina. DESIGN: Case report. INTERVENTION: A 10-month-old girl with tuberous sclerosis was found to have bilateral astrocytic hamartomas, the right eye being prominently involved by elevated and pedunculated lesions. At 7 years of age, she had posterior subcapsular cataract, retinal detachment, and subretinal exudation develop in the right eye. At 12 years of age, her blind, painful right eye had to be enucleated because of neovascular glaucoma and a spontaneous scleral perforation. RESULTS: Histopathologic examination showed that the entire vitreous cavity was filled with a mixture of tumor, granulation tissue, and necrotic debris. Part of the tumor was composed of spindle-shaped glial cells. The remainder was composed of large gemistocytic cells that contained large atypical nuclei and copious amounts of cytoplasm, which was intensely eosinophilic in some areas. The tumor contained foci of necrosis and rare mitotic figures. It had infiltrated the parenchyma of the retrolaminar nerve and extended to the surgical margin. Areas of unequivocal choroidal invasion were also identified. The tumor cells were intensely immunoreactive for neuron-specific enolase and S-100 protein. In contrast, glial fibrillary acidic protein was only minimally positive. CONCLUSIONS: The histologic and immunohistochemical features of this retinal tumor resemble those of subependymal giant cell astrocytoma, a characteristic lesion in tuberous sclerosis. Although this unusual giant cell astrocytoma of the retina had atypical histopathologic features and local aggressive behavior, the systemic prognosis was excellent. ( info) |
8/613. Genital angiofibromas in tuberous sclerosis: two cases. Cutaneous lesions are an important feature of tuberous sclerosis (TS). Facial angiofibromas usually begin to appear at the end of the first decade of life and are considered to occur in about 88% of adults with TS. They are only rarely reported on sites other than the face or front. In this paper, we report two patients with the complete syndrome of TS that had, in addition to classic facial lesions, multiple papules on the genital area. Histopathology confirmed the diagnosis of angiofibroma. One patient's lesions were misdiagnosed as genital warts and were so being treated before the correct diagnosis was made. Although we don't know the incidence of genital angiofibromas in TS patients, we believe that they might be underreported, because dermatologists generally don't look for them when they see these patients. ( info) |
9/613. Intraosseous fibrous lesions of the jaws: a manifestation of tuberous sclerosis. Four patients previously diagnosed with tuberous sclerosis are reported with intraosseous fibrous lesions of the jaws. review of the literature revealed comparable pathosis occurring in extragnathic bones and several previous reports of similar lesions within the jaws. Therefore, these intraosseous fibrous proliferations are thought to represent an intraoral manifestation of tuberous sclerosis and not coincidental findings. In all 4 cases, the tumors demonstrated significant collagenization with numerous interspersed plump fibroblasts. Although histopathologically similar, the features of the lesions are not specific and also can be found in desmoplastic fibromas and simple odontogenic fibromas. The definitive diagnosis requires appropriate clinicopathologic correlation. ( info) |
10/613. Renal cell carcinoma in children with diffuse cystic hyperplasia of the kidneys. We report the clinical, pathologic, and genetic features of renal malignancy in two children with diffuse cystic hyperplasia. Both presented with massive bilateral nephromegaly. Neither had a family history or clinical findings suggestive of tuberous sclerosis or von hippel-lindau disease. The kidneys of both children were extensively replaced by tubulocystic hyperplasia with large eosinophilic epithelial cells. The masses of hyperplastic tissue were nodular, compressing remnants of uninvolved renal parenchyma. Tubulopapillary carcinoma was present in both children, one of whom had bilateral multicentric carcinoma. No loss of heterozygosity was detected in the tumors at the TSC1, TSC2, or VHL gene regions, and no alterations in the VHL gene were detected using single-strand conformation polymorphism analysis. These cases of bilateral renal enlargement with diffuse cystic hyperplasia appear to represent a new clinical syndrome that may warrant bilateral nephrectomy because of the risk of malignancy. ( info) |