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-11-02-b 10.15844/pedneurbriefs-11-1-3 Degenerative Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Ataxia with Vitamin E Deficiency 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 01 1997 01 05 2016 11 1 2 2 Copyright: © 1997 The Author(s) 1997 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. Ataxia with isolated vitamin E deficiency in four siblings

Vitamin E adminstration (100 U/kg daily) resulted in improvements in ataxia, motor strength, and mobility in 2 siblings of a consanguineous Bedouin family with Friedreich ataxia and low serum vitamin E levels treated at Soroka Medical Center, Beer Sheva, Israel.

 Friedreich Ataxia Vitamin E Deficiency Erythrocytes

Vitamin E adminstration (100 U/kg daily) resulted in improvements in ataxia, motor strength, and mobility in 2 siblings of a consanguineous Bedouin family with Friedreich ataxia and low serum vitamin E levels treated at Soroka Medical Center, Beer Sheva, Israel. The 2 siblings who responded to vitamin E had spinocerebellar symptoms but no peripheral neuropathy. Two siblings complicated by neuropathy failed to respond. Erythrocytes of vitamin E-deficent patients had reduced permeability to acidified glycerol that was partially corrected by vitamin E. [1]

COMMENT. Ataxia with isolated vitamin E deficiency is a rare type of Friedreich ataxia which may be benefited by early administration of large doses of vitamin E. Patients may be vitamin E deficient despite normal intake in the diet. (For further cases and commentary, see Progress in Pediatric Neurology II, PNB Publ, 1994:p497).

Shorer Z Parvari R Bril G Sela BA Moses S Ataxia with isolated vitamin E deficiency in four siblings Pediatr Neurol 1996 Nov 15 4 340 343 10.1016/S0887-8994(96)00223-8 8972536