monilethrix/癲癇性発作

Three children with hair-shaft abnormalities and neurological disorders are reported. The first case is a young girl with monilethrix and Friedreich's ataxia that presented IgG and IgA deficiency, without telangiectasis. The second patient is a young girl with monilethrix and HMSN I. The third

The authors report the sixth case of Menkes' kinky hair disease. This boy has been observed for as long as 16 months, and he his still alive at the time of publication. This genetic, X linked disorder of copper metabolism is always fatal in childhood. Diagnosis is evoked when is noted the