Burrill Bernard Crohn published paper was "Regional Ileitis: A Pathologic and Clinical Entity". Crohn's work helped correct the thinking that the ailment was actually a form of tuberculosis rather than an inflammatory disease of the gastrointestinal tract. Crohn's work built on the work of Dr. Kennedy Dalziel of Glasgow into regional enteritis twenty years earlier. Crohn always preferred the medically descriptive terms "regional ileitis" and "regional enteritis" to "Crohn's disease", but he was not able to prevent the appropriation of his name for the disease. Some of Crohn's initial research into the causes of the Crohn's disease was centered around his personal conviction
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