To cite: Gish DS, Loynd RT, Melnick S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016216225 DESCRIPTION A 66-year-old woman presented to the emergency department after being found unconscious in her home. She lived alone and had no contact with the healthcare system for the past 20 years. On presentation, her vital signs included a temperature of 31.2...

Fabry disease (FD) is an inherited lysosomal disorder caused by an X-linked α-galactosidase A deficiency. We report the case of a 50-year-old male FD patient on hemodialysis who presented with macroglossia-related speaking difficulty and gastrointestinal symptoms. An endoscopic analysis revealed multiple gastric ulcers, and a histological examination led to a diagnosis of amyloid light-chain am...

Cystic fibrosis (CF) is a hereditary disease of exocrine gland function that involves multiple systems but chiefly results in chronic respiratory infections, the major cause of death, pancreatic enzyme deficiency and severe malnutrition, mostly in untreated patients. The association between CF and other inherited diseases or congenital anomalies is rare. We describe for the first time the assoc...