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Opis przypadku
Menkes disease – a rare disorder requiring interdisciplinary management
Magdalena Jaworek
1
,
Przemysław Hałubiec
2, 3
,
Magdalena Janeczko
4
,
Małgorzata Steczkowska
1
,
Andrzej Jaworek
2
,
Sławomir Kroczka
1
,
Anna Wojas-Pelc
2
,
Przemko Kwinta
5
Pediatr Pol 2025; 100 (4)
Data publikacji online: 2025/11/12
Plik artykułu:
- Menkes disease.pdf
[2.71 MB]
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1. 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: 6-13. 2.
Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet 2010; 18: 511-518. 3.
Kaler SG. Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment. J Trace Elem Med Biol 2014; 28: 427-430. 4.
Patel P, Prabhu AV, Benedek TG. The history of John Hans Menkes and kinky hair syndrome. JAMA Dermatol 2017; 153: 54. 5.
Menkes JH. A didactic autobiography. J Child Neurol 2001; 16: 191-198. 6.
Ramani PK, Parayil Sankaran B. Menkes disease. In: StatPearls. Treasure Island, FL: StatPearls Publishing. 7.
Kaler SG, Ferreira CR, Yam LS. Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD). Mol Genet Metab Rep 2020; 24: 100602. 8.
Kaler SG, Holmes CS, Goldstein DS. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 2008; 358: 605-614. 9.
Means MJ, Santos FJR, Sotardi ST, Beslow LA. Menkes disease: clinical presentation and imaging characteristics. Neuropediatrics 2022; 53: 218-220. 10.
Kodadek LM, Kemper RC, Lacy MQ. Cutaneous manifestations of Menkes disease: pili torti and beyond. Pediatr Dermatol 2012; 29: 163-170. 11.
Gasch AT, Caruso RC, Kaler SG, Kaiser-Kupfer M. Menkes’ syndrome: ophthalmic findings. Ophthalmology 2002; 109: 1477-1483. 12.
Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, et al. Urological problems in patients with Menkes disease. J Korean Med Sci 2019; 34: e4. 13.
Pallotta R, del Rosso F, Domizio S, Carlone G, Petrucci A. Enamel defects in a case of Menkes’ syndrome. Acta Stomatol Belg 1989; 86: 33-36. 14.
Fujisawa C, Kodama H, Sato Y, Mimaki M, Yagi M, Awano H, et al. Early clinical signs and treatment of Menkes disease. Mol Genet Metab Rep 2022; 31: 100849. 15.
Hoffmann A, Waśkiel-Burnat A, Żółkiewicz J, Blicharz L, Rakow-ska A, Goldust M, et al. Pili torti: a feature of numerous congenital and acquired conditions. J Clin Med 2021; 10: 3901. 16.
Sáez-de-Ocariz M, Aguilar-Sarmiento AS, Garcés-Abad M, Vázquez-Arroyo P, García-Romero MT, Durán-McKinster C. Usefulness of trichoscopy over hair light microscopy in Menkes disease. Skin Appendage Disord 2022; 8: 57-60. 17.
Kaler SG. ATP7A-related copper transport diseases – emerging concepts and future trends. Nat Rev Neurol 2011; 7: 15-29. 18.
Ojha R, Prasad AN. Menkes disease: what a multidisciplinary approach can do. J Multidiscip Healthc 2016; 9: 371-385. 19.
Venkataraman L, Jeanty CJ, Kaniganti T, Kennedy BJ, Sullivan P, Goldstein DS, et al. Intravenous AAV9- ATP7A plus subcutaneous copper histidine optimizes outcomes in a lethal Menkes disease mouse model. Sci Adv 2025; 11: eadw5612.
Copyright: © 2025 Polish Society of Paediatrics. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
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