Clinical case of family neurofibromatosis type I

Background. Neurofibromatosis is a group of orphan diseases with a wide spectrum of clinical presentation, which makes the disease difficult to diagnose. Pigmentation manifestations represent an early clinical sign in children with neurofibromatosis type I, but it is necessary to differentiate this clinical sign with Legius syndrome and other neurocutaneous disorders. Over the past several decades, neurofibromatosis type I has increased the risk of neurodevelopmental problems, including decreased intellectual ability, motor delays, attention deficit disorder, increased rates of autism spectrum disorder, and psychiatric disorders. Objective. To present a clinical case of familial neurofibromatosis type I. Materials and methods. The medical history, results of clinical and additional examination methods of patients who are pupils of the state government institution of the Astrakhan region Specialized Children's Home "Kapelka" in Astrakhan were studied. Results. We present our experience of two brothers who carry cutaneous stigmata of neurofibromatosis type I. The older brother was diagnosed at 4 years 3 months, the younger brother 3 years 2 months. In a family of boys, this disease was diagnosed in their mother, who died in 2019 at the age of 25. A CT scan of the patient's brain revealed signs of neurofibromatosis type I with multifocal changes in the parenchyma of the cerebral hemispheres, basal ganglia, brain stem and cerebellum. No damage to other systems or organs was detected. Laboratory tests revealed no abnormalities. Conclusion. Reports of a familial case of neurofibromatosis type I from clinical practice may be important for the training of young doctors in various medical specialties. The clinical course of this disease is unpredictable and requires multidisciplinary clinical assessment throughout life.