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Уважаемые коллеги!
Может найдете интересными след. ссылки: Schwartz ID, Schwartz KJ, Kousseff BG, Bercu BB, Root AW. Endocrinopathies in Cornelia de Lange syndrome. J Pediatr. 1990 Dec;117(6):920-3. Brain Dev. 1986;8(5):541-6. Cornelia de Lange syndrome associated with a suprasellar germinoma. Sugita K, Izumi T, Yamaguchi K, Fukuyama Y, Sato A, Kajita A. A case of Cornelia de Lange syndrome complicated by a suprasellar germinoma is presented. The patient was an 18 years old girl with severe mental retardation and characteristic facial and other malformed features. She was admitted because of polyuria and polydipsia. Endocrine investigation showed defects of hypothalamic-pituitary function. The most striking finding on postmortem examination was the existence of a suprasellar germinoma extending to the optic tract and pituitary lobes. Acta Pathol Jpn. 1986 Jan;36(1):143-9. Cornelia de Lange syndrome with intracranial germinoma. Sato A, Kajita A, Sugita K, Izumi T, Fukuyama Y, Funata N, Okeda R. An autopsy case of Cornelia de Lange syndrome with intracranial germinoma is reported. Clinically, the patient was diagnosed as having this syndrome at one year of age, she was found to be suffering from diabetes insipidus at 18 years of age and soon she had an accidental death. The autopsy disclosed that the tumor grew from the hypothalamus to the optic nerve and the posterior lobe of the hypophysis. Microscopically, this tumor was a germinoma with a "two cell pattern". On the other hand, examination by peroxidase-antiperoxidase complex (PAP) method of the anterior lobe of the hypophysis demonstrated that thyroid-stimulating hormone (TSH) and follicle-stimulating hormone (FSH) producing cells had decreased.
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Искренне, Вадим Валерьевич. |