Central nervous system haemangioblastoma: a clinical and genetic study of 52 cases

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 53; no. 8; pp. 644 - 648
• Main Authors: Boughey, A M, Fletcher, N A, Harding, A E
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-08-1990; BMJ; BMJ Publishing Group LTD
• Subjects: Adolescent; Adult; Aged; Biological and medical sciences; Brain Neoplasms - diagnosis; Brain Neoplasms - genetics; Cerebellar Neoplasms - diagnosis; Cerebellar Neoplasms - genetics; Female; Follow-Up Studies; Hemangiosarcoma - diagnosis; Hemangiosarcoma - genetics; Humans; Male; Medical sciences; Middle Aged; Neurology; Risk Factors; Spinal Cord Neoplasms - diagnosis; Spinal Cord Neoplasms - genetics; Vascular diseases and vascular malformations of the nervous system; von Hippel-Lindau Disease - genetics; Human; Intracranial; Nervous system diseases; Prognosis; Inheritance; Central nervous system; Hemangioblastoma; Genetic disease; Angioma; Treatment; Surgery; Tumor; Diagnosis; Von Hippel Lindau disease; Cerebrovascular disease
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.53.8.644

Fifty two cases of haemangioblastoma were reviewed for their clinical, genetic and prognostic features. Of 34 patients with apparently isolated cerebellar lesions, postoperative outcome was good in 79%. Six isolated spinal lesions presented more insidiously and morbidity was related to incomplete resection. Twelve (23%) of the patients definitely had von Hippel-Lindau disease (VHLD). The true proportion may be higher as this diagnosis was not definitely excluded in many of the remainder; only ten patients with seemingly isolated cerebellar tumours were appropriately investigated and two had evidence of VHLD. Four out of 26 cases (15%) with apparently completely resected, isolated, cerebellar lesions later developed recurrent tumours. Brainstem and supratentorial haemangioblastomas were rare and were always associated with VHLD. The cerebellar or spinal haemangioblastomas due to VHLD had no distinctive clinical features compared with isolated tumours and there was considerable overlap in age of onset between the two groups of cases. All patients with an apparently isolated CNS haemangioblastoma should be investigated for evidence of von Hippel-Lindau disease.