A three-month-old male presented with developmental delay, rib fractures, and seizures. He had normal-looking hair.11 Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet 2010;18 (05):511-518. Doi: 10.1038/ejhg.2009.187
https://doi.org/10.1038/ejhg.2009.187...
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.22 Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease. Mol Genet Metab 2019;126(01):6-13. Doi: 10.1016/j.ymgme.2018.12.005
https://doi.org/10.1016/j.ymgme.2018.12....
,33 Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 1999;41 (04):423-429. Doi: 10.1046/j.1442-200x.1999.01095.x
https://doi.org/10.1046/j.1442-200x.1999...
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).
References
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1Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet 2010;18 (05):511-518. Doi: 10.1038/ejhg.2009.187
» https://doi.org/10.1038/ejhg.2009.187 -
2Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease. Mol Genet Metab 2019;126(01):6-13. Doi: 10.1016/j.ymgme.2018.12.005
» https://doi.org/10.1016/j.ymgme.2018.12.005 -
3Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 1999;41 (04):423-429. Doi: 10.1046/j.1442-200x.1999.01095.x
» https://doi.org/10.1046/j.1442-200x.1999.01095.x
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Publication Dates
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Publication in this collection
07 June 2024 -
Date of issue
2024
History
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Received
16 Jan 2024 -
Accepted
25 Feb 2024