Burrill Bernard Crohn at Mount Sinai Hospital in 1907. He was promoted to head of gastroenterology in 1920, the same year he joined the staff of Columbia University. Working with colleagues at Mount Sinai Hospital, Crohn identified fourteen patients whose symptoms and intestinal abnormalities discovered at surgery, while consistent with each other, did not fit any previously identified disease. Crohn, along with Leon Ginzburg and Gordon Oppenheimer, prepared the classic paper describing this new condition. This paper was read at a professional meeting in May 1932 and published in the "Journal of the American Medical Association" in October 1932. The title of the
Adult polyglucosan body disease body disease do not have identified mutations in the "GBE1" gene. In these individuals, the cause of the disease is unknown. Along with evaluation of the symptoms and a neurological examination, a diagnosis can be made based on genetic testing. Whether or not a person is making sufficient amounts of functional glycogen branching enzyme can be determined by taking a skin biopsy and testing for activity of the enzyme. Examination of tissue biopsied from the sural nerve under a microscope can reveal the presence of polyglucosan bodies. There will also be white matter changes visible in a magnetic resonance imaging