In:
Pediatrician (St. Petersburg), ECO-Vector LLC, Vol. 6, No. 4 ( 2015-12-15), p. 124-134
Kurzfassung:
Objectives of publication: Presentation of a rare clinical observation from our own practice. Key points: The combination of brain tumors and colon polyposis often described in the literature as a syndrome Turcot. Turcot's syndrome is a genetic disease with different clinical manifestations. This is a rare syndrome (a little more than 150 cases are described), and therefore, the standardization of approaches to diagnosis and treatment is not currently defined. We present the clinical case of manifestations of the Turcot’s syndrome of our practice. Сlinical observation: Male patients, from birth to the skin marked multiple cafe-au-lait spots. At age 14 years, according to a magnetic resonance imaging multiple brain tumors are revealed, two different histologically tumor brains (one of which is benign (pilocytic astrocytoma), the other is malignant (anaplastic ependymoma)) and total colon adenomatous polyposis were diagnosed. Currently, syndromic pathology is not verified. Receives one of polychemotherapy protocols for treating tumors of the central nervous system. It is planned to conduct additional studies aimed at clarifying the genetic defect, with a view to a possible optimization of the therapy (modification of the plane of polychemotherapy, use of an option of radiation therapy, use of a target therapy). Conclusions: The results of a comprehensive survey of the use of modern techniques of molecular biology and cytogenetics affect the prognosis of the disease and treatment strategy.
Materialart:
Online-Ressource
ISSN:
2587-6252
,
2079-7850
DOI:
10.17816/PED64124-134
Sprache:
Unbekannt
Verlag:
ECO-Vector LLC
Publikationsdatum:
2015
