Acute Necrotizing Encephalopathy in Siblings Due to Mutation c.1754C>T in the RANBP2 Gene: Clinical Cases Description
The article describes a rare case of simultaneous development of acute necrotizing encephalopathy (ANE) in siblings. ANE is a disease with a severe course, manifested by neurological disorders and pathognomonic lesions of the thalamus of the brain, developing against the background of an infectious fever. Most cases of АNE are sporadic, less often familial, occurring more frequently in patients with an identified mutation in the RANBP2 gene on chromosome 2q11-13. The disease is characterized by high mortality rates and often by neurological deficit after recovery. A clinical case of ONE occurring in two siblings with healthy parents is presented. Patient V., aged 6 years, against the background of an acute respiratory infection, experienced acute neurological symptoms with neuroradiological changes in the form of a bilateral lesion of the brain in the region of the thalamus, the posterior legs of the internal capsules, the crus cerebri, the pons, the medulla oblongata the left insular lobe. Simultaneously with the onset of symptoms in patient V., similar symptoms and brain changes occurred in his younger sister. Whole exome sequencing revealed a heterozygous mutation с.1754С>T р.Thr585Met in the RANBP2 gene. Therapy was carried out with glucocorticosteroids and intravenous normal human immunoglobulin. In follow-up after 5 months, patient V. demonstrates a significant improvement in his neurological status, and patient Yu. retains moderate tetraparesis and severe dysarthria.