title: From idiopathic diabetes insipidus to neurodegenerative Langerhans cell histiocytosis--an unusual presentation and progression of disease.
abstract: Diabetes insipidus (DI) is rare in childhood and has a wide-ranging aetiology including the involvement of uncontrolled proliferation of dendritic cells in the hypothalamic-pituitary axis, characteristic of Langerhans cell histiocytosis (LCH). DI may manifest as a sequela of multisystem LCH disease involving skin, bone, liver, spleen and lymph nodes. In very rare cases patients diagnosed with LCH exhibit neurodegenerative changes, such as severe ataxia, tremor, dysarthria and intellectual impairment. We report a 2 1/2-year-old boy who presented initially with apparent idiopathic DI, developed anterior pituitary hormone deficiency and progressive neurological deterioration secondary to neurodegenerative LCH.
authors.affiliation: Paediatric Endocrinology, Southampton University Hospitals NHS Trust, Southampton, UK.
authors.forename: Rachel M
authors.initials: RM
authors.lastname: Hayward
authors.forename: Gary
authors.initials: G
authors.lastname: Nicolin
authors.forename: Charles
authors.initials: C
authors.lastname: Kennedy
authors.forename: Harriet
authors.initials: H
authors.lastname: Joy
authors.forename: Justin H
authors.initials: JH
authors.lastname: Davies
mesh_terms: D002675:Child, Preschool; D003919:Diabetes Insipidus / Q000276:immunology / Q000473:pathology*; D018450:Disease Progression; D006646:Histiocytosis, Langerhans-Cell / Q000276:immunology / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019636:Neurodegenerative Diseases / Q000276:immunology / Q000473:pathology*