Background: Anemia is a common accompaniment of cerebral palsy, mental retardation and neurodegenerative disorders.
Clinical characteristics: A 4-year-old boy with chronic megaloblastic anemia, global developmental delay, seizures, intracranial calcification and new onset neuro-regression.
Observation: A diagnosis of hereditary folate malabsorption was made, and he was put on oral and injectable folinic acid.
Outcome: Marked improvement at 6 month follow up.
Message: Hereditary folate malabsorption should be suspected in any child having megaloblastic anemia and neuro degeneration disorder.