Beyond bacteria and breaking the norm: Pulmonary mucormycosis due to Absidia corymbifera in a child with primary ciliary dyskinesia.
PMID 41224705 | PMCID PMC12615979 | DOI 10.1177/03000605251381480 · The Journal of international medical research · 2025
Primary ciliary dyskinesia is a rare autosomal recessive disorder that impairs mucociliary clearance and predisposes children to chronic respiratory infections. Invasive fungal infections caused by Lichtheimia (Absidia) corymbifera are typically confined to profoundly immunocompromised hosts and are exceptionally uncommon in patients without systemic immunosuppression. We report the case of a 6-year-old boy with genetically confirmed primary ciliary dyskinesia (C3orf67 mutation) and right-middle-lobe bronchiectasis who developed persistent cough and increased sputum production. High-resolution chest computed tomography demonstrated right-lower-lobe consolidation and segmental atelectasis. Bronchoalveolar lavage microscopy revealed broad, aseptate/pauci-septate hyphae, and the culture yielded L. corymbifera, establishing the diagnosis of pulmonary mucormycosis. The child received intravenous liposomal amphotericin B for 18 days, followed by oral azole step-down therapy, resulting in complete clinical and radiological recovery. This case expands the spectrum of invasive mucormycosis to include pediatric patients with primary ciliary dyskinesia in the absence of classical immunosuppressive risk factors. Early bronchoscopy, mold-directed culture, and prompt antifungal therapy, supported by multidisciplinary care, are critical for favorable outcomes.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | primary ciliary dyskinesia | “Beyond bacteria and breaking the norm: Pulmonary mucormycosis due to Absidia corymbifera in a child with primary ciliary dyskinesia.” | 0.98 | phenotype_alias_lexicon_v2 |