1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-6-85-a 10.15844/pedneurbriefs-6-11-7 Neurocutaneous Syndromes Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant CNS Lesions in Von Hippel-Lindau Syndrome http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 11 1992 01 07 2016 6 11 85 85 Copyright: © 1992 The Author(s) 1992 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Central nervous system lesions in von Hippel-Lindau syndrome

Ninety-seven gene carriers of von Hippel-Lindau syndrome (HLS) were studied at the University of Freiburg, Germany, to evaluate the prevalence and location of CNS lesions.

 Von Hippel-Lindau Syndrome Hemangioblastomas Pancreatic Cysts

Ninety-seven gene carriers of von Hippel-Lindau syndrome (HLS) were studied at the University of Freiburg, Germany, to evaluate the prevalence and location of CNS lesions. Hemangioblastomas of the CNS were found in 43 patients (44%). Of a total of 93 hemangioblastomas found in 43 patients (44%), 74% were intracranial and 26% were in the spinal cord. Seventy-five percent were cystic and 25% solid. Multiple lesions occurred in 42% of HLS hemangioblastomas but in none of 51 CNS hemangioblastomas without HLS. Cerebella hemangioblastomas were the major cause of death in 82% of the patients with HLS. [1]

COMMENT. Other manifestations of von Hippel-Lindau syndrome were as follows: retinal angiomatosis - 44%, renal cysts - 47%, pheochromocytoma - 5%, pancreatic cysts - 30%, and epididymal cystadenoma - 15%. The MRI and gadolinium-enhanced MRI have improved the detection of small CNS lesions which are the initial manifestations of the syndrome and the largest percentage of patients. Multifocal tumor development and recurrence are serious problems in management and prognosis.

 Neumann HPH Eggert HR Scheremet R Schumacher M Mohadjer M Wakhloo AK Central nervous system lesions in von Hippel-Lindau syndrome J Neurol Neurosurg Psychiatry 1992 Oct 55 10 898 901 10.1136/jnnp.55.10.898 1431953