A Case Report of von Hippel-Lindau Disease Manifested in a Monozygous Twin.
10.3803/jkes.2005.20.4.395
- Author:
Jin Woo KIM
1
;
Sang Jo CHOI
;
Yeon Kyeong KIM
;
Sang Mi AHN
;
Kyoung Eun SONG
;
Sun Hye JUNG
;
Dae Jung KIM
;
Yoon Sok CHUNG
;
Kwan Woo LEE
;
Il Jin KIM
;
Hio Chung KANG
;
Jae Gahb PARK
Author Information
1. Department of Endocrinology and Metaboilsm, Ajou University School of Medicine, Korea.
- Publication Type:Case Report
- Keywords:
Von Hippel-Lindau disease;
Pheochromocytoma;
Cerebellar hemangioblastoma;
VHL gene
- MeSH:
Adult;
Brain;
Carcinoma, Renal Cell;
Central Nervous System;
Cerebellum;
Codon;
Diagnosis;
Emergency Service, Hospital;
Exons;
Germ-Line Mutation;
Headache;
Hemangioblastoma;
Hemangioma;
Humans;
Kidney;
Male;
Mass Screening;
Mothers;
Pancreas;
Pheochromocytoma;
Retina;
Retinaldehyde;
Siblings;
Tomography, X-Ray Computed;
von Hippel-Lindau Disease*
- From:Journal of Korean Society of Endocrinology
2005;20(4):395-400
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Von Hippel-Lindau (VHL) disease is an autosomal dominant disease, which forms hypervascular tumors in multiple organs, such as hemangioblastomas in the retina and central nervous system, renal cell carcinomas, pheochromocytomas and cysts in various organs. Recent advances in gene testing have made it possible to screen family members for VHL disease. We experienced a 28 year-old male, who was diagnosed with bilateral pheochromocytomas through a family screening test when his elder monozygous twin brother was diagnosed with a pheochromocytoma. He received no treatment until December, 2004, when he visited the Emergency room due to a headache. A hemangioma of the cerebellum was seen in the brain MR study, leading to the diagnosis of type 2A VHL disease. An abdominal CT scan revealed no lesions of the pancreas or kidney. There was no evidence of a hemangioma in the retinal scan. The subsequent gene testing showed a germline mutation in exon 3 codon 167 of the VHL gene. The mother of the patient was revealed to have the same mutation of the VHL gene, but the elder brother of the patient did not.
