A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia.

Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations in this patient have not been previously described in the literature.

Observations: An 11-year-old girl of Indian descent from a consanguineous family presented to our clinic with poor central visual acuity, recurrent sinopulmonary infections, hypotrichosis, and gradual hearing loss.

Mycobacterium avium complex (MAC) presenting as the first infection in a child with cystic fibrosis.

Nontuberculous mycobacteria (NTM) have been increasingly recognized in recent years as contributors to clinically significant lung infection in cystic fibrosis (CF) patients. Reports of prevalence vary from 6 to 22% around the world. Prevalence estimates in childhood CF is challenging since sputum producers are rare, bronchoalveolar lavage is an invasive procedure and may not be feasible, and mounting evidence deeming throat cultures to be unsuccessful in detecting NTM.