Posterior fossa scintiangiography: documentation of genetic penetrance of von Hippel--Lindau syndrome in a clinically unaffected girl and her father

Journal Article · Mon Sep 01 00:00:00 EDT 1975 · J. Nucl. Med., v. 16, no. 9, pp. 828-830

OSTI ID:4142854

Hattner, R S

The syndrome of von Hippel and Lindau is a rare hereditary disorder constituted by retinal angiomata, posterior fossa and spinal cord hemangioblastomata, cystic and adenomatous dysplasia of major organs, and occasionally renal cell carcinomata. Although the syndrome is transmitted by an autosomal dominant gene, the penetrance is variable and affected persons may have any or all of the elements of the disease. The 16-year-old clinically normal daughter of a patient with the von Hippel--Lindau syndrome demonstrated a vascular posterior fossa lesion on /sup 99m/Tc-DTPA scintiangiography that failed detection in delayed images. Contrast arteriography corroborated the presence of a hemangioblastoma. Noninvasive demonstration of the genetic penetrance of this disorder offers its victims an opportunity for low morbidity early surgical cure of the associated brain lesions. (auth)

• Research Organization: Univ. of California, San Francisco
• NSA Number: NSA-33-001060
• OSTI ID: 4142854
• Journal Information: J. Nucl. Med., v. 16, no. 9, pp. 828-830, Other Information: Orig. Receipt Date: 30-JUN-76
• Country of Publication: United States
• Language: English

Related Subjects

N48830* -Life Sciences-New Tracer Techniques-Other
550601* -Biomedical Sciences
Basic Studies-Medicine- Unsealed Radionuclides in Diagnostics
*BRAIN- SCINTISCANNING
*CONGENITAL DISEASES- DIAGNOSTIC TECHNIQUES
*NEOPLASMS- DIAGNOSTIC TECHNIQUES
*TECHNETIUM 99- DIAGNOSTIC TECHNIQUES
BIOMEDICAL RADIOGRAPHY
CONTRAST MEDIA
DTPA
ISOMERIC NUCLEI
LABELLED COMPOUNDS
NUCLEAR MEDICINE
PATIENTS
RADIONUCLIDE ADMINISTRATION