International journal of surgery case reports · 2023
Von-Hippel Lindau (VHL) syndrome with bilateral cerebellar hemangioblastomas and retinal angiomas: A rare presentation.
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Acharya Abhijit, Panigrahi Souvagya, Mahapatra A K, Deo Rama Chandra, Senapati Satya Bhushan
Аннотация
INTRODUCTION AND IMPORTANCE: Hemangioblastomas are benign vascular neoplasms which originate almost exclusively from central nervous system (CNS). They account for 2 % of all intracranial neoplasms, 7 %-12 % of posterior fossa tumours. 60-75 % cases of hemangioblastomas occur sporadically and rest 25 % to 40 % occur in genetically inherited in the autosomal dominant neoplasia syndrome known as Von Hippel-Lindau (VHL) disease with mutation occurring on chromosome 3p.
CASE PRESENTATION: We, hereby, report a case of one such rare case of a 30-year old male who presented to us with the complaint of holocranial headache for past 2 months associated with vomiting along with bilateral cerebellar signs and symptoms. MRI Brain revealed multiple cysts with enhancing mural nodules present on both cerebellar hemispheres. Due to recurrence and multi-focality of lesions, VHL syndrome was suspected.
CLINICAL DISCUSSION: VHL is a rare autosomal dominant disease. MRI is the gold standard test. It demonstrates specific appearances depending on the tumour anatomy. Hemangioblastoma of the CNS in VHL usually develop from childhood at an age of <10 years or early teen until the age of 30 years. The most common locations for hemangioblastomas in VHL are cerebellum and spinal cord as seen in our patient.
CONCLUSION: VHL being a lifelong disease with no cure till date, the patients should be frequently screened for lesions at various potential sites in his/her lifetime so as to provide required intervention at the earliest. Hence, a genetic screening for VHL (VHL tumour suppressor gene), should be performed in cases of hemangioblastoma.
CASE PRESENTATION: We, hereby, report a case of one such rare case of a 30-year old male who presented to us with the complaint of holocranial headache for past 2 months associated with vomiting along with bilateral cerebellar signs and symptoms. MRI Brain revealed multiple cysts with enhancing mural nodules present on both cerebellar hemispheres. Due to recurrence and multi-focality of lesions, VHL syndrome was suspected.
CLINICAL DISCUSSION: VHL is a rare autosomal dominant disease. MRI is the gold standard test. It demonstrates specific appearances depending on the tumour anatomy. Hemangioblastoma of the CNS in VHL usually develop from childhood at an age of <10 years or early teen until the age of 30 years. The most common locations for hemangioblastomas in VHL are cerebellum and spinal cord as seen in our patient.
CONCLUSION: VHL being a lifelong disease with no cure till date, the patients should be frequently screened for lesions at various potential sites in his/her lifetime so as to provide required intervention at the earliest. Hence, a genetic screening for VHL (VHL tumour suppressor gene), should be performed in cases of hemangioblastoma.