title: A case of stiff-person syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformis.
abstract: Antibodies against glutamic acid decarboxylase (GAD) are involved in the pathophysiology of stiff-person syndrome (SPS) and type 1 diabetes. GAD catalyses the conversion of glutamate to gamma-aminobutyric acid (GABA). GABA acts as a neurotransmitter between neurones, while in pancreatic beta cells it plays an integral role in normal insulin secretion, hence the clinical presentation of muscular spasms in SPS and insulin deficiency in diabetes. Despite this apparent major overlap in pathophysiology, SPS only rarely occurs in individuals with type 1 diabetes. We report the case of a 41-year-old man presenting with a simultaneous diagnosis of both these conditions. His case is unusual in that it is the first reported case in the literature of these conditions occurring in someone with celiac disease (CD) and dermatitis herpetiformis. We discuss why SPS and type 1 diabetes co-exist in only a minority of cases and speculate on the underlying mechanism of the association with CD and dermatitis herpetiformis in our patient.
authors.affiliation: Department of Diabetes and Endocrinology, Beaumont Hospital, Dublin 9, Ireland. eoinosullivan@beaumont.ie
authors.forename: Eoin P
authors.initials: EP
authors.lastname: O'Sullivan
authors.forename: Lucy-Ann
authors.initials: LA
authors.lastname: Behan
authors.forename: Tom F J
authors.initials: TF
authors.lastname: King
authors.forename: Orla
authors.initials: O
authors.lastname: Hardiman
authors.forename: Diarmuid
authors.initials: D
authors.lastname: Smith
mesh_terms: D000328:Adult; D002446:Celiac Disease / Q000175:diagnosis* / Q000503:physiopathology; D015897:Comorbidity; D003874:Dermatitis Herpetiformis / Q000175:diagnosis* / Q000503:physiopathology; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008297:Male; D016750:Stiff-Person Syndrome / Q000175:diagnosis* / Q000503:physiopathology