Clinical case report of hypothalamic obesity in a child with neurofibromatosis type I and glioma of the chiasmatic-sellar region

Neurofibromatosis (NF) is a genetic disorder characterized by the development of various types of benign or malignant tumors affecting ether the central or the peripheral nervous systems and manifested also on the skin in the form of “café au lait” spots as well as other signs sometimes. Thus, this disorder requires multidisciplinary approach. The clinical case observed in the Article is no exception.: a patient with coffee-colored spots all over the body from an early age was described with similar familial symptoms in the patient’s father, two brothers. At the age of 4 months old, after the first DTaP vaccination, nystagmus appeared, after the second vaccination - progressive deterioration of vision, and at the age of 3 to 4 years old the hearing loss joined in. For the 6 years the patient was observed by pediatrician, ophthalmologist, otolaryngologist and neurologist and received courses of retrobulbar injections of vascular-metabolic drugs, hardware treatment and physiotherapy with slightly positive effect. The first MR imaging of the brain was performed at the age of 7 y/o when a glioma was detected in the chiasmatic-sellar region. Starting the age of 7 y/o the patient gradually developed and increased hypothalamic obesity with subsequent metabolic complications in the forms of impaired glucose tolerance, hyperinsulinism and insulin resistance, arterial hypertension and non-alcoholic fatty liver disease. At the age of 12 a heterozygous mutation in the NF1 gene (deletion of 4 nucleotides) in exon 5 was detected: c.495_498delTGTT:p.T165fs, which made it possible to establish a diagnosis of NF type 1. This case reflects the multifaceted nature of the disease, the importance of a multidisciplinary approach and its early diagnosis.