title: Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia.
abstract: Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and neurological abnormalities, such as cerebellar ataxia, extrapyramidal signs and dementia. Aceruloplasminemia is caused by mutations in the ceruloplasmin gene, which results in the absence of serum ceruloplasmin and iron overload in the brain, liver, pancreas and other organ tissues. However, little is known about endocrine diseases associated with aceruloplasminemia. We report herein a case of aceruloplasminemia accompanied by central diabetes insipidus and hypothalamic hypothyroidism.
authors.affiliation: Department of Endocrinology, Okazaki City Hospital, Okazaki. minemori128aa@yahoo.co.jp
authors.forename: Minemori
authors.initials: M
authors.lastname: Watanabe
authors.forename: Chikako
authors.initials: C
authors.lastname: Asai
authors.forename: Kota
authors.initials: K
authors.lastname: Ishikawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kiyota
authors.forename: Tatsuhiro
authors.initials: T
authors.lastname: Terada
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kono
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Miyajima
authors.forename: Ataru
authors.initials: A
authors.lastname: Okumura
mesh_terms: D000328:Adult; D002570:Ceruloplasmin / Q000172:deficiency; D020790:Diabetes Insipidus, Neurogenic / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007027:Hypothalamic Diseases / Q000150:complications / Q000175:diagnosis*; D007037:Hypothyroidism / Q000150:complications / Q000175:diagnosis*; D019189:Iron Metabolism Disorders / Q000150:complications / Q000175:diagnosis; D008297:Male; D019636:Neurodegenerative Diseases / Q000150:complications / Q000175:diagnosis
chemical_list: D002570:Ceruloplasmin