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Transient temporal lobe changes and a novel mutation in a patient with Menkes disease

degenerative disease described by Menkes et al. in 1962.1 The disease is caused by mutations in the MNKD gene, which encodes a copper transporting ATPase (ATP7A).2 In patients with MNKD, copper absorption is disturbed, resulting in copper deficiency and a decrease in the activities of copper enzymes including lysyl oxidase and cytochrome C oxidase. The clinical features of the disease include progressive neurological degeneration, hypotonia, seizures, abnormal blood vessels and abnormal hair. All these symptoms are a result of the decreases in the copper enzyme activities. The decreased activity of lysyl oxidase, which is involved in elastin and collagen cross-linking, results in the impairment of blood vessel integrity. Neuroneal damages are attributable to a deficiency of cytochrome C oxidase, dopamine beta hydroxylase and superoxide dismutase. Neuropathological examination in MNKD reveals multifocal areas of infarction, edema, neuroneal loss and gliosis.3 It has been reported when a neuroradiological examination is performed, brain atrophy, subdural hemorrhage and tortuosity of blood vessels are commonly observed in patients with MNKD, and that these changes are progressive.4–6 We report here a patient with classical MNKD who transiently exhibited abnormalities in both temporal lobes as well as typical findings of MNKD. Magnetic resonance imaging (MRI), including fluid attenuated resonance inversion recovery (FLAIR) examination suggested that the lesions may be because of an ischemic change associated with encephalomalacia. A novel mutation was detected in the ATP7A gene of this patient. Case Report