CT Findings in Menkes’ Kinky Hair Disease

Abstract

Menkes’ kinky hair disease is a disorder of copper metabolism with clinical features of motor and mental retardation, convulsive seizures and characteristic hair deformities. We followed CT findings in a case of kinky hair disease. The male infant weighting 3,240 g at birth after 37 weeks’ gestation, developed convulsions at 3 months of age, suffered from pneumonia at 8 months and was admitted to our hospital because of frequent convulsions. On admission, he had rough, short, brown and curly hair. Serum copper and serum ceruloplasmin levels were low, and there was no response to oral loading of copper sulfate. CT scan revealed enlargement of ventricles, atrophy of cerebral hemispheres and spinal cord at 4 months, and subdural high density effusion at 9 months. A remarkable subdural hematoma that shows higher density than that of the effusions on CT scan appeared at 10 month, which was removed surgically. Xanthochromic effusion and subdural hematoma with septum were found during the opreation. It was concluded that these changes of CT scans were caused by reccurent minimal hemorrhage, and these hemorrhage was caused by rupture of bridging vein due to fragility of the veins and progressive brain atrophy. © 1984, The Japanese Society of Child Neurology. All rights reserved.