Vlenkes Kinky Hair Syndrome; Report on an Autopsy Case and His Female Sibling with Similar Clinical Manifestations

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• Clinical and pathological findings of a boy with Menkes kinky hair syndrome were reported. He showed progressive psychomotor disturbance with convulsion and peculiar hair abnormalities. X-rays of the bones showed metaphyseal spurring, flaring of the anterior end of the ribs and multiple Wormian bones. The levels of serum copper and ceruloplasmin were as low as one third of normal. He was in a vegetative state and died of pneumonia at the age of 20 months. Low copper content was found in the cerebrum and the liver at autopsy. But copper content of the red blood cell was normal and that of the duodenum was high.

• 一般社団法人 日本小児神経学会の論文

一般社団法人 日本小児神経学会 | 論文

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