Vitamin E deficiency during chronic childhood cholestasis: Presence of sural nerve lesion prior to 21/2 years of age

Ronald J. Sokol, Kevin E. Bove, James E. Heubi, Susan T. Iannaccone

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)197-204
Number of pages8
JournalThe Journal of Pediatrics
Volume103
Issue number2
DOIs
StatePublished - 1983

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Vitamin E Deficiency
Sural Nerve
Cholestasis
Neurologic Manifestations
Vitamin E
Histology
Serum
Nervous System Trauma
Abnormal Reflexes
Muscle Hypotonia
Tocopherols
Ataxia
Hemolysis
Age of Onset
Hydrogen Peroxide
Nervous System
Lipids
Muscles

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Vitamin E deficiency during chronic childhood cholestasis : Presence of sural nerve lesion prior to 21/2 years of age. / Sokol, Ronald J.; Bove, Kevin E.; Heubi, James E.; Iannaccone, Susan T.

In: The Journal of Pediatrics, Vol. 103, No. 2, 1983, p. 197-204.

Research output: Contribution to journalArticle

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