Abstract
A total of 8 members of two consanguineous Tunisian families affected with Friedreich’s ataxia (FA) phenotype not linked to chromosome 9 were found to have very low levels of serum vitamin E (0.5 mcg/ml cf 8 mcg/ml in controls) in a study at the Institut National de Neurologie, Tunis, and at Centers in Cyprus and France.
Highlights
A three-decade investigation of familial pheochromocytoma involving 619 descendants of 3 siblings of German origin, reported from the University of Pittsburgh
VITAMIN E DEFICIENCY FAMILIAL ATAXIC SYNDROME A total of 8 members of two consanguineous Tunisian families affected with Friedreich's ataxia (FA) phenotype not linked to chromosome 9 were found to have very low levels of serum vitamin E (0.5 mcg/ml cf 8 mcg/ml in controls) in a study at the Institut National de Neurologie, Tunis, and at Centers in Cyprus and France
Abetalipoproteinemia, and fat malabsorption syndromes were excluded as possible causes of vitamin E deficiency
Summary
All patients with pheochromocytomas should be screened for von Hippel-Iindau disease by ophthalmoscopy and MRI of the brain. A three-decade investigation of familial pheochromocytoma involving 619 descendants of 3 siblings of German origin, reported from the University of Pittsburgh Six had von Hippel-Lindau disease manifested by cerebellar hemangioblastoma or retinal angioma, one becoming blind from bleeding.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
