A three-month-old male presented with developmental delay, rib fractures, and seizures.
He had normal-looking hair.[1] A magnetic resonance imaging (MRI) scan of the brain was normal. Pathogenic ATP7A mutation was identified, which confirmed Menkes Disease. Only at 9 months of age
did he develop patches of kinky hair.
Parenteral copper histidine supplementation can modify Menkes disease progression
if initiated within days after birth.[2]
[3] The clinical diagnosis relies on phenotypic presentation, especially sparse and
lusterless scalp hair typically apparent by 2 to 3 months of age; however, our patient
demonstrated that this feature may not appear until much later in life. Therefore,
hair abnormalities should not be relied upon to initiate genetic testing ([Figure 1]).
Figure 1 (A) Normal hair at 3 months of age; and (B) hair strand at 9 months of age with classic pili torti seen in Menkes disease.
Bibliographical Record
Hannah A. Oppenheim, Maria A. Montenegro. Emergence of kinky hair in Menkes disease.
Arq Neuropsiquiatr 2024; 82: s00441786761.
DOI: 10.1055/s-0044-1786761
