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CC BY 4.0 · Arq Neuropsiquiatr 2024; 82(05): s00441786761
DOI: 10.1055/s-0044-1786761
Images in Neurology

Emergence of kinky hair in Menkes disease

Desenvolvimento de kinky hair na doença de Menkes
Hannah A. Oppenheim 
1   University of California San Diego, Department of Neuroscience, San Diego California, United States.
,
Maria A. Montenegro 
2   Rady Children's Hospital, San Diego California, United States.
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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]).

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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.

Authors' Contributions

HAO, MAM: conceptualization, data curation, formal analysis, writing of the original draft, and writing – review and editing.




Publication History

Received: 16 January 2024

Accepted: 25 February 2024

Article published online:
13 May 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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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