Vitamin responsive neurological conditions

Index

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.