The Girl with No Bowel
In each episode of Mystery Diagnosis, viewers are confronted with medical mysteries. The stories are told through intimate interviews with the patients themselves, their families, friends and doctors.
These interviews in combination with photos and home movies, highly stylized recreations and CGI anatomy sequences, take the viewer step-by-step through a medical odyssey. Symptoms emerge. Tests are analyzed. Specialists are consulted. But still, something isn’t quite right. Time passes and the daily struggles continue.
And then one day, because of a patient’s relentless pursuit of an accurate and final diagnosis (or the determined efforts of their family or a forward thinking doctor) the puzzle is solved and an accurate diagnosis given.
- This Mystery Diagnosis episode is about Hermansky Pudlak Syndrome. Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.
The Characteristics of HPS is described by five major characteristics which may include albinism, platelet dysfunction, inflammatory bowel disease, and pulmonary fibrosis.
The current diagnosis for HPS involves a simple non standard blood test. At the moment there is no particular treatment for HPS.
