Nelson Textbook of Pediatrics 22nd Edition β Vitamin E (Ξ±-tocopherol) is a fat-soluble antioxidant. Deficiency causes progressive myopathy (resembling muscular dystrophy) and neuropathy. At-risk populations: chronic malabsorption (cystic fibrosis, cholestatic liver disease, short bowel syndrome, celiac disease), premature infants, abetalipoproteinemia (MTTP mutation). Treatment: high-dose oral vitamin E (Ξ±-tocopherol).
π paeds.online β Pakistan's Pediatric Platform| Category | Examples | Neuromuscular Manifestations |
|---|---|---|
| Malabsorption disorders | Cystic fibrosis, cholestatic liver disease (biliary atresia, Alagille), short bowel syndrome, celiac disease, chronic pancreatitis | Proximal myopathy (resembles muscular dystrophy), spinocerebellar ataxia, peripheral neuropathy (dorsal column loss), ophthalmoplegia, retinopathy |
| Prematurity | Very low birth weight infants (decreased placental transfer, immature absorption) | Hemolytic anemia, retinopathy, myopathy (risk of intraventricular hemorrhage also) |
| Abetalipoproteinemia (MTTP) | AR; unable to synthesize chylomicrons, VLDL β fat-soluble vitamin malabsorption (A, D, E, K) | Ataxia, acanthocytosis, retinitis pigmentosa, steatorrhea, neuropathy, myopathy |
| Familial isolated vitamin E deficiency (TTPA) | AR; mutation in Ξ±-tocopherol transfer protein | Isolated vitamin E deficiency without fat malabsorption; progressive ataxia, neuropathy |
Vitamin E (Ξ±-tocopherol) is a potent antioxidant that protects cell membranes from oxidative damage, particularly in neural and muscle tissues. Deficiency leads to progressive degeneration of dorsal columns (spinocerebellar tracts), peripheral nerves (axonal neuropathy), and myopathy.
Diagnosis: Low serum vitamin E (Ξ±-tocopherol) level. Normal range: 5-20 mcg/mL (11.6-46.4 ΞΌmol/L). Levels <5 mcg/mL indicate deficiency.
Treatment: Oral Ξ±-tocopherol. In malabsorption, water-soluble formulation (tocophersolan, TPGS) or high-dose regular vitamin E. For abetalipoproteinemia: high-dose vitamin E (50-200 mg/kg/day) plus vitamins A, D, K.