Ураження зорових нервів при сімейній формі нейрофіброматозу 1-го типу у трьох поколіннях однієї родини

Yu. A. Orlov; M. V. Kvasnitskiy

Authors

Yu. A. Orlov Romodanov Neurosurgery Institute, Kiev, Ukraine
M. V. Kvasnitskiy Gorbachevsky Ternopil State Medical University, Ternopil, Ukraine

Keywords:

нейрофіброматоз 1-го типу, гліома зорового нерва, лікування

Abstract

A family — father and all three his children — with neurofibromatosis type 1 (NF1) were observed. One patient was operated with concomitant morphological research. All patients were examined including neurovisualisation study regularly. Uniformity of disease in all individuals is an evidence of constant genotype, the same gene mutation have caused the disease in all. Variable expressivities of NF1 gene are noticed. It concern to morphological changes, age of manifestation, clinical signs, combinations of cutaneous, bony and eye lesions, intensity of symptoms and order of appearance. Magnetoresonance imaging is a method of choice to confirm NF1 because of high sensitivity to define typical changes of basal nuclei, neuronal migration. Combination of neoplastic lesions and violated neuronal migration (heterotopias, hamartoma, basal ganglions) confirm NF1 diagnosis. Two cases of optic pathway glioma describes two variants of treatment — observation and surgery, the last one indicated in case fast visual lost or fast tumor growth.

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