Hereditary Folate Malabsorption with Extensive Intracranial Calcification.

ABSTRACT

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.