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.