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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.

Indian Pediatrics
|February 2, 2015
PubMed

Insights

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

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.
Abstract

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