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Chronic granulomatous disease mimicking early-onset Crohn's disease with cutaneous manifestations

Maria Barbato, Giovanni Ragusa, Fortunata Civitelli

  • 1Pediatric Immunology Unit, Sapienza University of Rome, Viale Regina Elena, 324-00161 Rome, Italy. melengu@hotmail.it.

BMC Pediatrics
|June 21, 2014
PubMed
Abstract

Insights

Chronic granulomatous disease (CGD) is a rare immune disorder. Early suspicion and diagnosis are crucial, especially in children with persistent infections mimicking inflammatory bowel disease.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Chronic granulomatous disease (CGD) is an inherited disorder affecting the innate immune system.
  • Recurrent or persistent infections, particularly with uncommon pathogens, warrant consideration of CGD.

Observation:

  • A 5-year-old boy presented with symptoms suggestive of Crohn's disease and extraintestinal manifestations.
  • Isolation of Serratia marcescens from a skin ulcer led to suspicion of CGD.

Findings:

  • Histological confirmation of granulomas supported the diagnosis of CGD.
  • The patient was diagnosed with chronic granulomatous disease.

Implications:

  • This case highlights the importance of considering immune deficiencies like CGD in pediatric patients with presumed inflammatory bowel disease.
  • High clinical suspicion is vital for diagnosing alternative conditions, especially in early-onset disease with opportunistic infections.

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