Hypoxemia without Respiratory Distress: Hereditary Hemorrhagic Telangiectasia in a Child

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an underrecognized genetic disorder of vascular development in pediatric patients. Its presentation can range from mild cutaneous findings to life-threatening hemorrhage from arteriovenous malformations. Clinical diagnosis can be challenging in the pediatric population as disease manifestations evolve over time and may be difficult to identify in younger patients. This case highlights how nonspecific symptoms and signs in the preanesthesia period can be misleading, potentially placing a patient with unrecognized HHT at risk for significant morbidity and mortality.

Keywords

hereditary hemorrhagic telangiectasia - pediatric - hypoxemia

Ethical Approval

This case report does not contain any studies with human participants or animals performed by any of the authors. Institutional review board approval was not required for this case report. The patient's mother authorized the writers to maintain and disclose imaging records and medical information relevant to this case report.

Authors' Contributions

M.D.M., C.N., and C.K. managed the patient. M.D.M. and C.N. drafted the initial manuscript. C.K. gave conceptual advice and revised the manuscript for intellectual content. All authors read and approved the final manuscript.

Publication History

Received: 24 March 2020

Accepted: 08 April 2020

Article published online:
29 April 2020

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