<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Von Hippel-Lindau (VHL) disease is an inherited tumor predisposition caused by mutations in the VHL tumor suppressor gene. Carriers of these mutations face a lifelong risk of developing multisystemic tumors. We present the case of a patient who at the age of 23 presented, following an insidious onset, symptoms of intracranial hypertension. Therapeutic and diagnostic surgical intervention put the stigma of a genetic pathology with permanent life impairment. The multiple surgeries undergone and the lack of early rehabilitation led to the significant impairment of the functional deficit through the appearance of paraparetic motor deficit, balance and walking disorders. The periodic functional evaluation is carried out in the Rehabilitation Hospital of Techirghiol Romania, where he is hospitalized and receives complex treatments by combining natural and physical-kinetic factors. For the last 30 years, significant changes have been made regarding the clinical characteristics and molecular aspects of VHL disease and early genetic diagnosis, but significant challenges remain. The complex multidisciplinary approach of these cases represents a priority in treating these patients.</p>
</abstract>

Von Hippel-Lindau (VHL) disease is an inherited tumor predisposition caused by mutations in the VHL tumor suppressor gene. Carriers of these mutations face a lifelong risk of developing multisystemic tumors. We present the case of a patient who at the age of 23 presented, following an insidious onset, symptoms of intracranial hypertension. Therapeutic and diagnostic surgical intervention put the stigma of a genetic pathology with permanent life impairment. The multiple surgeries undergone and the lack of early rehabilitation led to the significant impairment of the functional deficit through the appearance of paraparetic motor deficit, balance and walking disorders. The periodic functional evaluation is carried out in the Rehabilitation Hospital of Techirghiol Romania, where he is hospitalized and receives complex treatments by combining natural and physical-kinetic factors. For the last 30 years, significant changes have been made regarding the clinical characteristics and molecular aspects of VHL disease and early genetic diagnosis, but significant challenges remain. The complex multidisciplinary approach of these cases represents a priority in treating these patients.

Von Hippel Lindau Disease With Multiorganic Localization in a Younger Male Patient – Case Raport and Short Literature Review

ARS Medica Tomitana

This work is licensed under the Creative Commons Attribution 4.0 International License.

Von Hippel-Lindau (VHL) disease is an inherited tumor predisposition caused by mutations in the VHL tumor suppressor gene. Carriers of these mutations face a...

Von Hippel Lindau Disease With Multiorganic Localization in a Younger Male Patient – Case Raport and Short Literature Review

Pubblicato online: 16 gen 2024

Pagine: 80 - 84

DOI: https://doi.org/10.2478/arsm-2023-0012

Parole chiave
multidisciplinary, motor disorder, rehabilitation

© 2023 Cristiana Calboreanu-Libu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Von Hippel Lindau Disease With Multiorganic Localization in a Younger Male Patient – Case Raport and Short Literature Review

Pubblicato online: 16 gen 2024

Pagine: 80 - 84

DOI: https://doi.org/10.2478/arsm-2023-0012

Parole chiavemultidisciplinary, motor disorder, rehabilitation

© 2023 Cristiana Calboreanu-Libu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Parole chiave
multidisciplinary, motor disorder, rehabilitation