J Korean Soc Endocrinol.  2005 Aug;20(4):395-400. 10.3803/jkes.2005.20.4.395.

A Case Report of von Hippel-Lindau Disease Manifested in a Monozygous Twin

• Kim JW
• Choi SJ
• Kim YK
• Ahn SM
• Song KE
• Jung SH
• Kim DJ
• Chung YS
• Lee KW
• Kim IJ
• Kang HC
• Park JG

• KMID: 2100472
• DOI: http://doi.org/10.3803/jkes.2005.20.4.395

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.

MeSH Terms

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*
Codon
Retinaldehyde

Figure

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  Fig. 1 Germline mutation of the VHL gene. A missence mutation (C to T transversion) at codon 160 on short arm of chromosome 3 was detected, which leads to an amino acid change from arginine to tryptopane. N indicates C >T change in mutant allele

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  Fig. 2 Abdominal CT. Rt. 3.7 cm and Lt. 3.8 cm sized contrast enhancing solid mass lesion are noted on both adrenal gland

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  Fig. 3 Brain MR. 1.5 cm sized enhancing mass lesion is noted on right cerebellar hemisphere

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  Fig. 4 123I MIBG whole body scan. Small focal increased uptake is noted in the both adrenal gland. No evidence of distant metastasis is noted

• 

  Fig. 5 The pedigree of investigated family

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