A 10-month-old boy, born to non-consanguineous parents, presented with failure to thrive and tonic spasms. Sparse, steely hairs (Fig. 1), depressed nasal bridge, chubby cheeks and delayed motor development were the findings on examination. Serum copper was 14.37 mg/dL and ceruplasmin was 9.58 mg/dL. MR angiography reveals tortuosity of cerebral vessels (Fig. 2).

Fig. 1 Brittle, tangled, sparse, ivory gray kinky hairs.

Fig. 2 MR angiography showing tortuosity of intracerebral vessels.

Menkes Kinky hair disease is an X-linked recessive trait caused by mutations in the ATP7A gene leading to disturbed copper metabolism contributing to low serum copper and ceruplasmin. It is characterized by brittle, tangled, sparse, steely or kinky hairs that are often white, ivory, or gray in color with easy pluckability. Hair shaft abnormalities include pili torti, trichorrehexis nodosa, trichoclasis, and trichoptilosis.