Achieving positive rehabilitation outcomes in a child with von Hippel–Lindau disease following complete resection of a cerebellar hemangioblastoma: a case report

Von Hippel–Lindau disease is a rare, congenital, multisystemic hereditary disorder classified as a phakomatosis. It is characterized by multiple benign and malignant angiomatous tumors. Hemangioblastoma of the central nervous system is classified as a rare, highly vascularized, benign tumor. This is one of the most common tumor types associated with von Hippel-Lindau disease. The condition usually has a long asymptomatic phase, so it often goes undiagnosed until adulthood.

This work presents positive rehabilitation outcomes for a 16-year-old girl with von Hippel-Lindau disease, which manifested as multiple cystic and solid lesions in the posterior cranial fossa. Rehabilitation took place at the Medical and Rehabilitation Research Center Russkoye Pole. A long rehabilitation period allowed for the gradual achievement of clinical goals, such as restoration of clear consciousness, safe and stable movement patterns, motor skills, voice and respiratory functions, and functional swallowing. A significant improvement in quality of life was observed after the patient received comprehensive, long-term medical rehabilitation from a multidisciplinary team. The local psychologists helped the girl and her mother overcome their difficult situation caused by the disease and adopt an optimistic outlook on their future, despite the high risk of new tumors.Continuous rehabilitation efforts enabled the girl to successfully graduate from school and enter a higher education institution.

The girl did not fully recover. Targeted therapy with belzutifan was prescribed because of the presence of slow-growing lesions in the brain and spinal cord. The planned duration of the targeted therapy is three years.