%0 Journal Article
%T ORO-DENTAL ASPECTS IN A PEDIATRIC CASE WITH TYPE 1 FAMILY NEUROFIBROMATOSIS WITH NEPHROGENIC DIABETES INSIPIDUS
%A A. Kozma
%A A.D. Iordan Dumitru
%J Archive of "Acta Endocrinologica (Bucharest)".
%D 2019
%R 10.4183/aeb.2019.131
%X Images of: Patient, female, ages 7, weight 21 kg and 112,5 cm height - under the normal height average for this age (122.52), presented at the pediatric medical consultation at the age of 2 and a half, when the mother noted the appearance of some spots, axillary ephalides, and in the left eye an important tumefaction. Based on the anamnesis, clinical examination and magnetic resonance imaging - cerebral MRI - left retro-orbital neurofibroma diagnosis (Fig. 1), type 1 family neurofibromatosis (genetic disease with dominant autosomal transmission) diagnosis is established, and blood tests confirm the suspicion of nephrogenic diabetes insipidus. Our hypothesis on etiology of nephrogenic diabetes insipidus in this patient is that it could be hereditary; the maternal grandmother and the patient¡¯s brother being diagnosed with insipidus diabetes
%K diabetes insipidus
%K neurofibromatosis
%K retro-orbital tumor
%K dental-alveolar disharmony
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535327/