Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning difficulties and kidney disease, however the impairment of any organ may complicate the clinical picture. Here we report on clinical findings of 25 patients diagnosed with BBS. Our study is the first on a cohort of Romanian BBS patients, aiming to emphasize the complexity of the disease that may have a devastating impact on patients and their families. Thus, an early clinical diagnosis is crucial for anticipation of other system and organ involvement. Periodic follow up, by a multidisciplinary team, may prevent several severe complications, which could accelerate or aggravate the most deleterious aspects of the disease: loss of vision or renal impairment.

The studies concerning spontaneous pneumothorax in children offer a limited amount of information about the best approach with regard to the patients who require surgical treatment of this condition. The less severe forms respond to conservative treatment which consists of oxygen therapy and pain medication. If medical treatment does not alleviate the symptoms or if the pneumothorax persists, the patient requires chest tube drainage[4,5,6]. Surgical treatment is indicated when the pneumothorax reoccurs or if effective pleural drainage does not improve the condition of the patient[5,7]. [...]