PURPOSE To report a case of Hermansky-Pudlak syndrome. CASE REPORT A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosp...

PURPOSE In this study we identify the characteristics of the urodynamic results in patients with painful bladder syndrome/interstitial cystitis and in those with idiopathic overactive bladder. MATERIALS AND METHODS The fluoroscopic urodynamic study results were analyzed retrospectively in 40 consecutive female patients with painful bladder syndrome/interstitial cystitis and 78 female patients...

A case of scurvy occurred in an apparently well-nourished 5-year-old boy with normal growth parameters. Only after the diagnosis of scurvy was raised on clinical grounds did we discover the peculiar dietary habits that were responsible for his deficiency of ascorbic acid. His case is a reminder to the clinician that nutritionally based disease may occur in any socioeconomic setting and that nut...

A 40-year-old male patient was admitted with complaints of right shoulder pain and decreased range of motion for two days. He was diagnosed with axillary web syndrome. Palpable subcutaneous cord which extended from axillary crease down to the ipsilateral arm was revealed. He was administered a non-steroidal anti-inflammatory drug and arranged 15 sessions of physical therapy. To the best of our ...