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. Fundus examination was significant for atrophic retinal pigmented epithelial (RPE) changes involving both the macula and periphery of both eyes with central foveal hypoautofluorescence. Optical coherence tomography (OCT) demonstrated RPE loss and significant disruption of the ellipsoid layer in both eyes. Full-field electrophysiology tests on initial presentation demonstrated low cone amplitude reduced to <70% of normal range without prolongation. OCT angiography of the RPE and choriocapillaris demonstrated possible flow voids in the central macular region of both eyes. Genetic testing showed that the proband was homozygous for variants CDH3 c.1660A > C; p. Thr554Pro and DNAH5 c.6688-1G>T. CONCLUSION: and Importance: We report two novel variants in the CDH3 and DNAH5 genes that are important for future mutational analysis of both HJMD and PCD respectively. A relationship between the cadherin protein dysfunction in CDH3 mutations and the ciliopathy of DNAH5 mutations has not been established. HJMD is known to cause a longitudinal deterioration of cone and rod mediated function, therefore recognizing the symptoms, visual impairment, physical examination, and photographic and electrophysiological findings is crucial in counseling the patient, the family, and fellow clinicians.

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. We report a case of an overall healthy 13 year old young adolescent female with CF, who presented with Mycobacterium avium complex (MAC) as her first documented lung infection, and while only presenting with minor cough proved to have severe purulent bronchial infection. Contrary to common paradigms, NTM can be the first infection in a non-previously infected airway, and, this first infection can be of a serious nature unlike the more subtle anticipated pattern. The causes of the high and probably increasing overall incidence of NTM and specifically in CF elude explanation and mandate further study. Continuing efforts should be invested into the study of all aspects of this ominous infection. Pediatr Pulmonol. 2015; 50:E5-E7. © 2014 Wiley Periodicals, Inc.