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Hereditary folate malabsorption with extensive intracranial calcification.

Ikhlas Ahmad1, Gousia Mukhtar, Javed Iqbal

  • 1Departments of Pediatrics and *Neonatology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, J and K, India. Correspondence to: Dr Ikhlas Ahmad, Senior Resident, Department of Pediatrics, Sher-i-Kashmir Institute of Medical Sciences, J and K, India. ikhlas.paeds@gmail.com.

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Hereditary folate malabsorption can cause megaloblastic anemia and neurodegeneration in children. Early diagnosis and treatment with folinic acid lead to significant clinical improvement.

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Area of Science:

  • Pediatric Neurology
  • Hematology
  • Medical Genetics

Background:

  • Anemia is frequently observed in children with cerebral palsy, intellectual disability, and neurodegenerative conditions.
  • Megaloblastic anemia, a specific type of anemia, is associated with neurological impairments.

Observation:

  • A case study of a 4-year-old boy presented with chronic megaloblastic anemia.
  • The child exhibited global developmental delay, seizures, intracranial calcifications, and recent neuro-regression.

Findings:

  • A diagnosis of hereditary folate malabsorption was established for the patient.
  • Treatment involved administering both oral and injectable folinic acid.

Implications:

  • Hereditary folate malabsorption should be considered in pediatric cases of megaloblastic anemia with neurological symptoms.
  • Prompt diagnosis and intervention with folinic acid can result in marked clinical improvement in affected children.