Journal Article

Persistent hypoxaemia and a headache in a previously healthy 11-year-old girl

Sadras, Ido, Mei-Zahav, Meir, Breuer, Oded

2022

Overview

Blood test results showed a white cell count of 23×109/L and an elevated C reactive protein level of 3.5 mg/L. Findings on physical examination of orthodeoxia (decrease in oxygen saturation by >2% when transitioning from supine to an upright position) or platypnea (dyspnoea induced by the upright position) in a patient with hypoxaemia and cyanosis suggests an intrapulmonary shunt.1 PAVMs may be complicated by paradoxical embolism with early development of cerebral abscesses and embolic strokes, and therefore, require prompt evaluation and management.2 3 PAVMs are most commonly caused by HHT, an autosomal dominant inherited disease with marked phenotypic heterogeneity and variable onset of disease manifestation.4 About 50% of HHT patients have PAVMs, while 70%–93% of patients with PAVM are diagnosed with HHT.5 The presentation in our patient highlights the physiology, clinical manifestation and consequence of PAVMs and the importance of considering intrapulmonary shunting as cause for hypoxemia. Contributors All authors met the criteria for authorship as recommended by the International Committee of Medical Journal Editors (ICMJE), were fully responsible for all content and editorial decisions, retained full control over all content contained in this report, and were involved with all stages of report development.

• Publisher: BMJ Publishing Group Ltd and British Thoracic Society,BMJ Publishing Group LTD
• Subject: Abscesses / Asymptomatic / Child / Cyanosis / Dyspnea / Embolization / Family medical history / Female / Headache - etiology / Headaches / Humans / Hypoxia - etiology / imaging/CT MRI etc / Magnetic Resonance Imaging / Multisystem inflammatory syndrome in children / Oxygen saturation / paediatric lung disaese / Pulmonary puzzle