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SM ISO690:2012 CHIRVAS, Elena. Neurofibromatoza tipul I (clasică von recklinghausen) – reflecții pe marginea unui caz clasic. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 308. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Pag. 308-308 | ||||||
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Background. Neurofibromatosis type I - autosomal dominant multisystemic pathology, characterized by café-au-lait macules; axillary, inguinal freckles; cutaneous, plexiform neurofibromas; iris Lisch nodules; optic gliomas; tibia, fibula, sphenoid wing dysplasia; scoliosis; essential hypertension, vasculopathy. Objective of the study. Description of a classic case of a 13-year-old patient in whom most of the distinctive diagnostic criteria for type I neurofibromatosis were found. Material and Methods. The patient addressed with disseminated skin lesions. Anamnestic disease began at the age of 6 years old, but for 3 years the pathological process has progressed. Heredocolateral anamnesis - the father with neurofibromatosis. The patient was examined objectively, paraclinically (blood test, CT imaging, EcoDoppler of extra and intracranial vessels), consult of the ophthalmologist and neurologist Results. The patient had hyperpigmented melanin macules (axillary and inguinal freckles, and in the body - lenticular / numular and café-au-lait). Painful subcutaneous neurofibromas were found in the neck, and in the left arm and popliteal fossa, in the left shoulder - painless skin neurofibromas. ContrastCT scan of the brain has found 0.9x1.2 cm optic gliomas in the right eye; EcoDoppler examination - a mixed type of intra and extracerebral neurocirculatory dystonia. The ophthalmologist's examination revealed bilateral optic nerve atrophy; and the neurologist’s - residual organic encephalopathy, intracranial hypertension, cognitive disorders. Conclusion. The diagnosis is based on clinical and imaging results. Annual monitoring of patients, monitoring of blood pressure, MRI for suspections of intracranial or internal tumors, systematic consultations of specialists (ophthalmologist, neurologist, endocrinologist, cardiologist) is required. |
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Cuvinte-cheie Neurofibromatosis type, I (von , Reckinghausen’s disease), neurofibromatoză tipul, I (clasică von , Recklinghausen) |
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