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-8-25-b 10.15844/pedneurbriefs-8-4-2 Ataxia Syndromes Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Sensory Ataxia and 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 04 1994 01 06 2016 8 4 25 26 Copyright: © 1994 The Author(s) 1994 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. Nigrostriatal function in vitamin E deficiency: clinical, experimental, and positron emission tomographic studies

A progressive limb and gait ataxia, distal loss of proprioception and vibration sense, and areflexia, caused by a prolonged and severe vitamin E deficiency, are reported in four patients evaluated as adults at King’s College, Hammersmith Hospital, and Institutes of Neurology and Child Health, London, UK.

 Vitamin E Deficiency Ataxia Abetalipoproteinemia

A progressive limb and gait ataxia, distal loss of proprioception and vibration sense, and areflexia, caused by a prolonged and severe vitamin E deficiency, are reported in four patients evaluated as adults at King’s College, Hammersmith Hospital, and Institutes of Neurology and Child Health, London, UK. Two patients had abetalipoproteinemia and vitamin E was undetectable from birth. One had a familial vitamin E defiency, and had been diagnosed as Friedreich’s ataxia at 13 years of age. One had Crohn’s disease and fat malabsorption dating back to 16 years. Three had striking head tremor. Impaired nigrostriatal activity in the patients with abetalipoproteinemia, demonstrated by reduced dopa uptake using PET studies, was similar to that seen in Parkinson’s disease. [1]

COMMENT. Some children with typical signs of Friedreich’s ataxia have familial vitamin E deficiency syndrome, with autosomal recessive inheritance. (Ped Neur Briefs Dec 1993;7:91). Early identification and supplementation with vitamin E may halt progression of the ataxia. A dose of 800 mg/day vitamin E in the 43-year-old male patient with this syndrome reported above had stabilized the neurologic status and his serum level of vitamin E was normal.

 Dexter DT Brooks DJ Harding AE Burn DJ Muller DP Goss-Sampson MA Nigrostriatal function in vitamin E deficiency: clinical, experimental, and positron emission tomographic studies Ann Neurol 1994 Mar 35 3 298 303 10.1002/ana.410350309 8122882