Abstract
Six-month-old twins, born to a consanguineous couple, presented with hypotonia, hypothermia, seizures, and developmental delay. The babies were fair complexioned; scalp hairs were sparse, light-colored, and fragile (figure 1), with regularly spaced twists (pili-torti) and nodes (trichorrhexis-nodosa). MRI brain revealed generalized atrophy with tortuous arteries (figure 2). Low plasma copper and ceruloplasmin levels confirmed Menkes syndrome.
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