Abstract Wolfram Syndrome consists of a neurodegenerative pathology of genetic character, also known by the acronym DIDMOAD that translates the main findings of this disease, Diabetes Insipidus, Diab
Introduction: Pseudoxanthoma elasticum (PXE) is a progressive hereditary disease caused by the calcification and degeneration of elastic fibers, affecting the skin, retina, blood vessels, and gastroin
Introduction: 3M syndrome is an autosomal recessive disorder characterized by characteristic facial features, severe pre- and postnatal growth restriction (<–4 SDS), and normal mental development. 3M
We report two cases, both with cholestatic jaundice as the main manifestation, in which BA was excluded and finally diagnosed as ALGS based on characteristic facial features, serological tests, imagin
Introduction: A 19-year-old male presented with a six-month history of recurrent abdominal bloating and lower limb edema, prompting a detailed diagnostic evaluation at our hospital. Case Presentation:
