• Clinical features of neurofibromatosis type 1 in children: association with primitive neuroectodermal tumor

Clinical features of neurofibromatosis type 1 in children: association with primitive neuroectodermal tumor

Perinatology and pediatric.Ukraine.2017.4(72):106-114; doi 10.15574/PP.2017.72.106

Dudnуk V. M., Furman V. G., Demianyshyna V. V.
National Pirogov Memorial Medical University, Vinnytsia, Ukraine

Objective: to study clinical features of neurofibromatosis in children on the basis of clinical and histological methods.
Material and methods. We performed a retrospective chart analysis of 35 children aged from 1 to 17 y.o. with neurofibromatosistype 1 who were on inpatient treatment in the hematological department in Vinnytsia Regional Children's Clinical Hospital during 2009/2016.
Results. The determination of gender and age characteristics of neurofibromatosis in children showed that girls aged from 7 to 11 are mostly affected by neurofibromatosis (44.44±4.0%). The disease manifested by pigmented spots «café-au-lait» in 25 children (71.4±5.6%) and palpated dermal neurofibromas in 15 children (42.8±4.9%). Optic nerve glioma was diagnosed in 10 (29±4.6%) of patients, predominantly in children under 6 years of age, clinically presented with proptosis, reduced visual acuity. The analysis of heredity showed that 22 children had relatives with neurofibromatosis. One child with neurofibromatosis was diagnosed with acute lymphoblastic leukemia, and one child had an intramedullary primitive neuroectodermal tumor.
Conclusions. Our research indicated the need for a detailed study of the peculiarity of neurofibromatosis in children. The disease has a high phenotypic diversity, including the congenital malformations of the skin, the nervous system, the retina, the skeletal system, increased risk of malignant tumors, which complicate the course of the disease. Variety of clinical signs requires systemic drug therapy, including chemotherapy, and often needs surgical treatment.
Key words: neurofibromatosis, primitive neuroectodermal tumor, children.


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