Nasu-Hakola disease. A case accompanied by abnormalities in fatty acid composition of serum total lipids and amino acid analysis.

A case of Nasu-Hakola disease (membranous lipodystrophy) was reported. The patient is a 33-year-old man who started to have pathological fractures at the age of 24 years. Then, neurological symptoms such as dementia appeared gradually. A biopsy specimen of the bone showed membranocystic changes of the adipose tissue. T2-weighted magnetic resonance images of the head showed low intensity in bilateral putamens, internal capsules, globi pallidi and caudate nuclei. One of his brothers has the same disease. In both patients, fatty acid composition of serum total lipids showed increased nervonic acid and plasma amino acid analysis showed decreased glutamine.