The parents of a 1-year-old boy are concerned regarding his hair being very brittle. He is being investigated for seizures. He has significant delay in psychomotor development. He had complete… Click to show full abstract
The parents of a 1-year-old boy are concerned regarding his hair being very brittle. He is being investigated for seizures. He has significant delay in psychomotor development. He had complete lack of scalp and eyebrow hair at birth. On examination, his hair was sparse, coarse in texture and twisted. Hair microscopy demonstrated pili torti. He had a low serum ceruloplasmin and serum copper. A diagnosis of Menkes Syndrome (MS) was made.
               
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