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Celiac disease presenting with microcephaly

H E Bostwick1, S H Berezin, M S Halata

  • 1Division of Pediatric Gastroenterology at New York Medical College, Valhalla, New York 10595, USA.

The Journal of Pediatrics
|April 11, 2001
PubMed

Insights

Poor head growth in infants may signal early celiac disease. This condition, characterized by microcephaly, can be reversed with a gluten-free diet, highlighting the importance of early diagnosis for pediatric celiac disease.

Area of Science:

  • Pediatric Gastroenterology
  • Neurodevelopmental Pediatrics
  • Autoimmune Disorders

Background:

  • Celiac disease is an autoimmune disorder triggered by gluten ingestion.
  • Clinical manifestations in infants often include gastrointestinal issues and failure to thrive.
  • Neurological complications are recognized but less commonly the primary presenting feature in early childhood.

Observation:

  • A 15-month-old female presented with microcephaly and developmental delay, suggestive of impaired neurological development.
  • Initial investigations were prompted by concerning head growth parameters.
  • The patient had a confirmed diagnosis of celiac disease.

Findings:

  • Head growth significantly improved after initiating a gluten-free diet.
  • Reintroduction of gluten led to cessation of head growth, areflexia, and elevated celiac antibodies.
  • Symptomatic and serological markers resolved upon strict gluten elimination, confirming the diet's impact.

Implications:

  • Microcephaly and developmental delay can be early, preceding indicators of celiac disease in infants.
  • Dietary gluten elimination is crucial for reversing neurological and growth deficits in pediatric celiac disease.
  • This case underscores the need to consider celiac disease in infants presenting with poor head growth and neurological symptoms.

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