Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia.
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.
Watanabe
Minemori
M
Department of Endocrinology, Okazaki City Hospital, Okazaki. minemori128aa@yahoo.co.jp
Asai
Chikako
C
Ishikawa
Kota
K
Kiyota
Atsushi
A
Terada
Tatsuhiro
T
Kono
Satoshi
S
Miyajima
Hiroaki
H
Okumura
Ataru
A
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
D002570:Ceruloplasmin