RESUMO
BACKGROUND: Incidence of Crouzon syndrome is 1 per 25.000-31.000 newborns. This syndrome is extremely rarely accompanied by optic canal stenosis. OBJECTIVE: To present a patient with Crouzon syndrome and optic canal stenosis, to discuss the management of such patients considering own and literature data. MATERIAL AND METHODS: A 6-year-old boy presented with Crouzon syndrome (verified by molecular genetic research, i.e. FGFR2 gene mutation). The patient underwent 3 surgeries for craniosynostosis and hydrocephalus. Nevertheless, visual acuity progressively decreased despite patent ventriculoperitoneal shunt. Examination revealed severe decrease in visual functions with optic disc congestion under secondary atrophy. MRI data on subarachnoid CSF accumulation over both optic nerves potentially indicated optic canal stenosis. This assumption was confirmed by 3D CT. RESULTS: The patient underwent decompression of both optic canals with subsequent improvement of visual functions. CONCLUSION: Vision decrease following Crouzon syndrome may be due to optic canal stenosis. Decompression may be effective, even in long-term course of disease, and improve visual functions.
Assuntos
Disostose Craniofacial , Humanos , Masculino , Disostose Craniofacial/cirurgia , Disostose Craniofacial/complicações , Criança , Constrição Patológica/cirurgia , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genéticaRESUMO
Spontaneous cerebrospinal fluid (CSF) leak is one of the types of non-traumatic CSF leaks in which the etiologic factor is unknown. Skull base defects transnasal endoscopic plasty is the initial method of surgical repair of spontaneous cerebrospinal fluid leaks. METHODS: Forty-five patients with spontaneous CSF leaks were managed using multilayer transplant technique. The basic choice criteria of endoscopic transnasal surgical approach and materials to reconstruction of skull base defects were the size of defect and its localization. In all cases pediculated flaps in combination with free graft were used. RESULTS: In 43 (96%) cases CSF leaks was successfully managed in primary surgery, which indicates high efficiency of the described surgical interventions.
Assuntos
Vazamento de Líquido Cefalorraquidiano , Procedimentos de Cirurgia Plástica , Vazamento de Líquido Cefalorraquidiano/cirurgia , Endoscopia , Humanos , Estudos Retrospectivos , Base do Crânio/cirurgia , Retalhos CirúrgicosRESUMO
The present study is dedicated to the search of human glioma "cells of origin". Specimens of the tumor tissue have been analyzed via the RT-PCR method to potentially reveal the expression of molecular markers characteristic of various cells of nerve tissue (NeuN, MOG, MBP, NG2, Olig2, Vimentin, GFAP, AldhlL1), as well as markers of stem (Oct4, c-Kit) and cancerous stem (CD133) cells. We have shown that the expression profiles of these markers for different types of gliomas intersect, which does not allow to determine the type of "cells of origin". So, in order to study the origin of glioma using cell lines derived from primary cultures, we need a more sophisticated culture conditions, rather than the commonly used serum-based media.