Emergence of kinky hair in Menkes disease

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.

Conflict of Interest

The authors have no conflict of interest to declare.

Authors' Contributions

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

• References

• 1 Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet 2010; 18 (05) 511-518
• 2 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
• 3 Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 1999; 41 (04) 423-429

Publikationsverlauf

Eingereicht: 16. Januar 2024

Angenommen: 25. Februar 2024

Artikel online veröffentlicht:
13. Mai 2024