title: Insulin-dependent diabetes mellitus presenting with ketoalkalosis in Rett syndrome.
abstract: A 9-year-old girl with Rett syndrome presented with typical symptoms of insulin-dependent diabetes mellitus. Upon investigation she was found to have a primary respiratory alkalosis associated with diabetes ketoacidaemia. Once non-ketotic normoglycaemia was achieved her respiratory alkalosis persisted. This was felt to be due to an abnormal breathing pattern of hyperventilation punctuated by apnoeas which is associated with Rett syndrome.
authors.affiliation: Department of Endocrinology, Great Ormond Street Hospital for Sick Children NHS Trust, London, UK.
authors.forename: F J
authors.initials: FJ
authors.lastname: Cameron
authors.forename: K C
authors.initials: KC
authors.lastname: Hawkins
authors.forename: V V
authors.initials: VV
authors.lastname: Khadilkar
authors.forename: R C
authors.initials: RC
authors.lastname: Tasker
authors.forename: M A
authors.initials: MA
authors.lastname: Preece
mesh_terms: D000471:Alkalosis / Q000097:blood / Q000209:etiology; D001049:Apnea; D001639:Bicarbonates / Q000097:blood; D002245:Carbon Dioxide / Q000097:blood; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000175:diagnosis*; D016883:Diabetic Ketoacidosis / Q000097:blood / Q000175:diagnosis*; D005260:Female; D006801:Humans; D006863:Hydrogen-Ion Concentration; D006985:Hyperventilation; D010100:Oxygen / Q000097:blood; D010313:Partial Pressure; D012119:Respiration; D015518:Rett Syndrome / Q000150:complications* / Q000503:physiopathology*
chemical_list: D001639:Bicarbonates; D002245:Carbon Dioxide; D010100:Oxygen