TY - JOUR
T1 - Vitamin E deficiency during chronic childhood cholestasis
T2 - Presence of sural nerve lesion prior to 21/2 years of age
AU - Sokol, Ronald J.
AU - Bove, Kevin E.
AU - Heubi, James E.
AU - Iannaccone, Susan T.
N1 - Funding Information:
From the Div&ions of Gastroenterology and Nutrition, Pathology, and Neurology, Children's Hospital Research Foundation, Children's Hospital Medical Center. Supported in part by Grant RR-OO123 from the General Clinical Research Centers Branch, Division of Research Resources, National Institutes of Health; Grant HL-07460, Postdoctoral Research Fellowship, Lipids-Atherosclerosis-Nutrition Training Program, National Heart, Lung and Blood Institute; a postdoctoral research fel!owship grant from the American Liver Foundation; and grants from Hoffman-LaRoche, Inc., and the Muscular Dystrophy Association. Reprint requests: Ronald J. Sokol, M.D., Section of Pediatric Gastroenterology and Nutrition, Department of Pediatrics, University of Colorado Health Sciences Center, 4200 East 9th Ave,, Box C 218, Denver, CO 80262.
PY - 1983/8
Y1 - 1983/8
N2 - Vitamin E malabsorption and deficiency during chronic childhood cholestasis has been associated with a progressive ataxic neurologic syndrome. Hyporeflexia, the first sign of neurologic dysfunction, may begin prior to age 2 years, but severe symptoms do not develop until age 5 to 10 years. To establish the age of onset of neuropathologic lesions, we prospectively evaluated four young children with severe cholestasis. Malabsorption and deficiency of vitamin E were documented by low serum vitamin E concentrations, low serum vitamin E to total serum lipids ratios, elevated hydrogen peroxide hemolysis, and impaired absorption of a pharmacologic dose of α-tocopherol. Abnormal neurologic findings in two patients were limited to areflexia, ptosis, mild truncal ataxia, and hypotonia; two patients had minimal signs of neurologic dysfunction. Sural nerve histology at age 6 to 25 months revealed a degenerative axonopathy involving large-caliber myelinated fibers, but without quantitative axonal loss. Muscle histology and histochemistry tests yielded normal results. Our study suggests that neurologic injury may occur during the first two years of life in vitamin E-deficient children with cholestatic hepatobiliary disease, obligating aggressive attempts at correcting this deficiency state at a very young age.
AB - Vitamin E malabsorption and deficiency during chronic childhood cholestasis has been associated with a progressive ataxic neurologic syndrome. Hyporeflexia, the first sign of neurologic dysfunction, may begin prior to age 2 years, but severe symptoms do not develop until age 5 to 10 years. To establish the age of onset of neuropathologic lesions, we prospectively evaluated four young children with severe cholestasis. Malabsorption and deficiency of vitamin E were documented by low serum vitamin E concentrations, low serum vitamin E to total serum lipids ratios, elevated hydrogen peroxide hemolysis, and impaired absorption of a pharmacologic dose of α-tocopherol. Abnormal neurologic findings in two patients were limited to areflexia, ptosis, mild truncal ataxia, and hypotonia; two patients had minimal signs of neurologic dysfunction. Sural nerve histology at age 6 to 25 months revealed a degenerative axonopathy involving large-caliber myelinated fibers, but without quantitative axonal loss. Muscle histology and histochemistry tests yielded normal results. Our study suggests that neurologic injury may occur during the first two years of life in vitamin E-deficient children with cholestatic hepatobiliary disease, obligating aggressive attempts at correcting this deficiency state at a very young age.
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U2 - 10.1016/S0022-3476(83)80344-8
DO - 10.1016/S0022-3476(83)80344-8
M3 - Article
C2 - 6308196
AN - SCOPUS:0020507390
SN - 0022-3476
VL - 103
SP - 197
EP - 204
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 2
ER -