A rare cause of bronchiectasis: a case report of a child with cartilage hair hypoplasia syndrome.

Leontien Depoorter, Linde Elise Peeters, Siel Daelemans, Jutte Van Der Werff Ten Bosch, Elke Clauwaert, Josefien Louise Vandekerckhove, Elke De Wachter

Onderzoeksoutput: Unpublished abstract


A 13-year old girl presented with persistent coughing and dyspnea since over a year. She is known with skeletal dysplasia of unknown origin. Physical examination showed marked bilateral crackles and wheezing. Chest X-ray revealed bilateral consolidation zones. Lung function showed a restrictive pattern with a FVC of 42% pred. Antibiotic treatment was started, to which she responded well. A CT scan showed multiple diffuse large bronchiectasis. Further work-up, including a sweat test and nasal biopsy, excluded cystic fibrosis and primary ciliary dyskinesia. A flexible bronchoscopy was performed and showed purulent secretions in all orificiae and the girl was admitted for intravenous antibiotics. A multisensitive Haemophilus Influenza (>100.000 bacteria/mL) was found in bronchoalveolar lavage (BAL). An immunological work-up was initiated. A further detailed history revealed that her younger sister was known with cartilage hair hypoplasia syndrome and died 2 years ago due to the complications of a malignancy. Genetic analysis showed that our patient is compound heterozygote for a disease-causing variation in the RMRP gene. Further immunological work-up is ongoing and definitive genetic results are pending, but there is a strong suspicion this girl has cartilage hair hypoplasia syndrome, as her sister.
Originele taal-2Dutch
StatusUnpublished - 2021
EvenementBelgian Pneumology Days 2021: Lung Pediatry Awards Session - Flanders Meeting & Convention Center Antwerp, Antwerpen, Belgium
Duur: 3 dec 20213 dec 2021


ConferenceBelgian Pneumology Days 2021

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