Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia

Minemori Watanabe; Chikako Asai; Kota Ishikawa; Atsushi Kiyota; Tatsuhiro Terada; Satoshi Kono; Hiroaki Miyajima; Ataru Okumura

doi:10.2169/internalmedicine.49.3508

CASE REPORTS

Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia

Minemori Watanabe, Chikako Asai, Kota Ishikawa, Atsushi Kiyota, Tatsuhiro Terada, Satoshi Kono, Hiroaki Miyajima, Ataru Okumura

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Keywords: aceruloplasminemia, central diabetes insipidus, hypothalamic hypothyroidism

JOURNAL OPEN ACCESS

2010 Volume 49 Issue 15 Pages 1581-1585

DOI https://doi.org/10.2169/internalmedicine.49.3508

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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.

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