期刊
INTERNAL MEDICINE
卷 49, 期 15, 页码 1581-1585出版社
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.49.3508
关键词
aceruloplasminemia; central diabetes insipidus; hypothalamic hypothyroidism
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.
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