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.
