Hereditary folate malabsorption with extensive intracranial calcification.

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.