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Published on: September 20, 2018
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia
Céline Bailly-Botuha1, Francis Jaubert, Rola Abou Taam
1Université Paris Descartes, Lyon, France.
The Journal of Pediatrics
|February 19, 2008
Summary
Cartilage-hair hypoplasia in children can cause chronic obstructive symptoms. Treatment with clarithromycin significantly improved respiratory function in affected children.
Area of Science:
- Pediatric Pulmonology
- Rare Genetic Disorders
- Immunology
Background:
- Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder.
- CHH is associated with various immune deficiencies and skeletal abnormalities.
- Respiratory complications are a significant concern in CHH patients.
Observation:
- Three pediatric patients with CHH presented with chronic obstructive symptoms.
- High-resolution computed tomography (HRCT) revealed bronchiolar wall thickening.
- Surgical lung biopsy was performed to investigate the underlying pathology.
Findings:
- Biopsies showed diffuse dilated lymphoplasmacytic bronchiolitis.
- Bronchiolar walls exhibited lymphocyte infiltration with plasma cell differentiation.
- Dispersed secondary follicles were noted within the bronchiolar tissue.
Implications:
- Lymphoplasmacytic bronchiolitis is a potential pulmonary manifestation of CHH.
- Antibiotic therapy, specifically clarithromycin, demonstrated significant clinical improvement.
- Early diagnosis and targeted treatment can improve respiratory outcomes in CHH.
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