Respiratory infections and chronic cough due to triple A (Allgrove) syndrome

Hengqi Zheng1, Ramesh S Iyer2, M Cristina Pacheco3

  • 1Division of Gastroenterology Seattle Children's Hospital Seattle Washington.

Clinical Case Reports
|March 19, 2020
PubMed

Insights

Pediatricians should consider rare genetic syndromes and gastrointestinal motility disorders in children with persistent respiratory and GI symptoms. Early diagnosis of these rare conditions improves outcomes and reduces long-term illness.

Area of Science:

  • Pediatric Medicine
  • Genetics
  • Gastroenterology

Background:

  • Cough and respiratory infections are frequent pediatric complaints.
  • Unremitting respiratory and gastrointestinal symptoms can be challenging to diagnose.
  • Rare conditions are often overlooked in the differential diagnosis.

Observation:

  • This case report details a pediatric patient with persistent respiratory and gastrointestinal issues.
  • The patient's symptoms prompted an investigation into less common etiologies.
  • Diagnostic challenges were encountered due to the complex symptom presentation.

Findings:

  • Rare genetic syndromes can manifest with significant respiratory and gastrointestinal involvement.
  • Primary gastrointestinal motility disorders may present with atypical respiratory symptoms.
  • A high index of suspicion is required for diagnosing these rare conditions.

Implications:

  • Considering rare diagnoses like genetic syndromes and motility disorders is crucial for effective pediatric care.
  • Early identification of these conditions facilitates timely and appropriate intervention.
  • Prompt management can significantly reduce long-term morbidity in affected children.

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