Vitamin-responsive conditions in child neurology, categorized by the vitamin involved.
Vitamin A deficiency : Can cause vision problems, including night blindness and xerophthalmia.
Vitamin A toxicity : Can lead to headaches, dizziness, nausea, and increased intracranial pressure.
Wernicke encephalopathy : Often seen in malnourished children or those with prolonged parenteral nutrition without supplementation.
Beriberi : Neurological symptoms include peripheral neuropathy and developmental regression.
Riboflavin transporter deficiency (RTD) : Associated with Brown-Vialetto-Van Laere syndrome, characterized by motor neuronopathy, sensory ataxia, and cranial neuropathy.
Pellagra : Can present with the "three Ds" — dermatitis, diarrhea, and dementia. Neurological symptoms include irritability, ataxia, and seizures.
Pantothenate kinase-associated neurodegeneration (PKAN) : A subset may benefit from pantothenic acid supplementation.
Pyridoxine-dependent epilepsy (PDE) : Presents as intractable neonatal seizures responsive to pyridoxine.
Pyridoxal phosphate deficiency : Similar to PDE but responds better to pyridoxal phosphate supplementation.
Biotinidase deficiency : Neurological manifestations include seizures, ataxia, hypotonia, and developmental delay. Treated with biotin supplementation.
Holocarboxylase synthetase deficiency : Responsive to biotin.
Cerebral folate deficiency (CFD) : Neurological symptoms include developmental regression, irritability, ataxia, and seizures. Treated with folinic acid.
Megaloblastic anemia due to folate deficiency : May include neurodevelopmental delays.
Cobalamin C deficiency (CblC) : Causes developmental delay, hypotonia, and seizures. Responsive to hydroxocobalamin.
Subacute combined degeneration : Neurological symptoms include ataxia, paresthesia, and cognitive decline. Associated with B12 deficiency.
Scurvy : Neurological symptoms are rare but may include depression, irritability, and pseudoparalysis due to pain.
Vitamin D deficiency : Can lead to hypocalcemia, manifesting as seizures, tetany, or irritability.
Vitamin D-dependent rickets type I and II : Respond to calcitriol or high-dose vitamin D.
Vitamin E deficiency : Often due to malabsorption (e.g., cystic fibrosis) or abetalipoproteinemia. Symptoms include ataxia, peripheral neuropathy, and myopathy.
Ataxia with vitamin E deficiency (AVED) : Autosomal recessive disorder treatable with vitamin E supplementation.
Vitamin K deficiency bleeding (VKDB) : Causes hemorrhagic disease of the newborn, which can lead to intracranial hemorrhage and neurological sequelae.
Glutaric aciduria type I : May benefit from riboflavin (B2) supplementation.
Methylmalonic acidemia : Some forms respond to B12.
Propionic acidemia : B12 supplementation may help in certain cases.
Homocystinuria : Responsive to pyridoxine (B6) or B12, depending on the subtype.
Ornithine transcarbamylase (OTC) deficiency : Treated with arginine and citrulline, but folate can be used in adjunct.
Nonketotic hyperglycinemia (NKH) : Some patients benefit from folinic acid.
Information Published: 31 December 2024 Last Updated: 02 January 2025
Details
© 2025 CNKE.Org- The Child Neurology Knowledge Environment
You don't have permission to copy the content.