Clinical characteristics of Menkes disease_Journal of Epilepsy

Authors：

 ZHANG Peiqi , LI Hua , HU Xiangshu , OUYANG Mei , JIN Yang , LI Danfang , PENG Kai , LI Kaihui , HU Weibing , YANG Haixuan , WANG Yao

Epilepsy Centre, Guangdong Sanjiu Brain Hospital, Guangzhou 510520, China;

Corresponding author：

ZHANG Peiqi, Email: 49198498@qq.com

Keywords：

Menkes disease; epilepsy; ATP7A gene; histidine copper

DOI：

10.7507/2096-0247.20210001

Video：

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Objective To improve the understanding of clinicians by reports and literature review of patients with rare diseases of Menkes disease.Methods High-throughput sequencing and Sanger sequencing were used to verify the genes of epilepsy, and the mutations were verified in three probands and two parents. The patient's clinical manifestations, EEG, imaging, gene and prognostic characteristics were analyzed.Results All the three patients developed onset in infancy, with hair thinning and curling, and various forms of seizures. Three patients had epileptiform discharges during the EEG interval, and all clinical seizures were recorded. Skull MR showed white matter long T1, long T2 abnormal signal, cerebral artery tortuosity, proband 3 appeared subdural effusion. Three patients had poor efficacy after taking anti-epileptic drugs. The proband one and the proband two did not show significant progress after using histidine copper, but could not alleviate the existing neurological damage.Conclusion Menkes disease occurs frequently in infants, clinical manifestations may be different, some clinical manifestations may be atypical, and currently it is an incurable disease, but the use of histidine copper in the neonatal period can improve survival and reduce nervous system injury. It should be diagnosed early. and the treatment of indications should not be guided by the patient's genotype.

Citation： ZHANG Peiqi, LI Hua, HU Xiangshu, OUYANG Mei, JIN Yang, LI Danfang, PENG Kai, LI Kaihui, HU Weibing, YANG Haixuan, WANG Yao. Clinical characteristics of Menkes disease. Journal of Epilepsy, 2021, 7(1): 2-11. doi: 10.7507/2096-0247.20210001 Copy

1.	Mmenkes JH, Alter M, Steigleder GK, et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics, 1962, 29: 764-779.
2.	Paulsen M, Lund C, Akram Z, et al. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. Am J Hum Genet, 2006, 79(2): 214-229.
3.	Møller LB, Tümer Z, Lund C, et al. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet, 2000, 66(4): 1211-1220.
4.	Kaler SG, Gahl WA. Application of a copper blotting method to the study of Menkes disease. Biol Trace Elem Res, 1993, 38(1): 73-81.
5.	Kaler SG, Holmes CS, Goldstein DS, et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med, 2008, 358(6): 605-614.
6.	Tønnesen T, Kleijer WJ, Horn N. Incidence of Menkes disease. Hum Genet, 1991, 86(4): 408-410.
7.	Danks DM, Cartwright E, Campbell PE, et al. Is Menkes' syndrome a heritable disorder of connective tissue. Lancet, 1971, 2(7733): 1089.
8.	Ahuja A, Dev K, Tanwar RS, et al. Copper mediated neurological disorder: visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease. J Trace Elem Med Biol, 2015, 29: 11-23.
9.	Tchan MC, Wilcken B, Christodoulou J. The mild form of menkes disease: a 34 year progress report on the original case. JIMD Rep, 2013, 9: 81-84.
10.	Sirleto P, Surace C, Santos H, et al. Lyonization effects of the t(X; 16) translocation on the phenotypic expression in a rare female with Menkes disease. Pediatr Res, 2009, 65(3): 347-351.
11.	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(4): 427-430.
12.	Goldstein DS, Holmes CS, Kaler SG. Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease. Neurochem Res, 2009, 34(8): 1464-1468.
13.	Park HD, Moon HK, Lee J, et al. A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease. Ann Clin Lab Sci, 2009, 39(2): 188-191.
14.	程晓悦, 肖江喜, 袁新宇, 等. Menkes病的MR影像表现. 中华放射学杂志, 2013, 47(7): 599-602.
15.	Koprivsek K, Lucic M, Kozic D, et al. Basal ganglia lesions in the early stage of Menkes disease. J Inherit Metab Dis, 2010, 33(3): 301-302.
16.	Manara R, D'Agata L, Rocco MC, et al. Neuroimaging changes in Menkes disease, Part 1. AJNR Am J Neuroradiol, 2017, 38(10): 1850-1857.
17.	Manara R, Rocco MC, D'agata L, et al. Neuroimaging changes in Menkes disease, Part 2. AJNR Am J Neuroradiol, 2017, 38(10): 1858-1865.
18.	Vairo F, Chwal BC, Perini S, et al. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease. Mol Genet Metab, 2019, 126(1): 6-13.

1. Mmenkes JH, Alter M, Steigleder GK, et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics, 1962, 29: 764-779.
2. Paulsen M, Lund C, Akram Z, et al. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. Am J Hum Genet, 2006, 79(2): 214-229.
3. Møller LB, Tümer Z, Lund C, et al. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet, 2000, 66(4): 1211-1220.
4. Kaler SG, Gahl WA. Application of a copper blotting method to the study of Menkes disease. Biol Trace Elem Res, 1993, 38(1): 73-81.
5. Kaler SG, Holmes CS, Goldstein DS, et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med, 2008, 358(6): 605-614.
6. Tønnesen T, Kleijer WJ, Horn N. Incidence of Menkes disease. Hum Genet, 1991, 86(4): 408-410.
7. Danks DM, Cartwright E, Campbell PE, et al. Is Menkes' syndrome a heritable disorder of connective tissue. Lancet, 1971, 2(7733): 1089.
8. Ahuja A, Dev K, Tanwar RS, et al. Copper mediated neurological disorder: visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease. J Trace Elem Med Biol, 2015, 29: 11-23.
9. Tchan MC, Wilcken B, Christodoulou J. The mild form of menkes disease: a 34 year progress report on the original case. JIMD Rep, 2013, 9: 81-84.
10. Sirleto P, Surace C, Santos H, et al. Lyonization effects of the t(X; 16) translocation on the phenotypic expression in a rare female with Menkes disease. Pediatr Res, 2009, 65(3): 347-351.
11. 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(4): 427-430.
12. Goldstein DS, Holmes CS, Kaler SG. Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease. Neurochem Res, 2009, 34(8): 1464-1468.
13. Park HD, Moon HK, Lee J, et al. A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease. Ann Clin Lab Sci, 2009, 39(2): 188-191.
14. 程晓悦, 肖江喜, 袁新宇, 等. Menkes病的MR影像表现. 中华放射学杂志, 2013, 47(7): 599-602.
15. Koprivsek K, Lucic M, Kozic D, et al. Basal ganglia lesions in the early stage of Menkes disease. J Inherit Metab Dis, 2010, 33(3): 301-302.
16. Manara R, D'Agata L, Rocco MC, et al. Neuroimaging changes in Menkes disease, Part 1. AJNR Am J Neuroradiol, 2017, 38(10): 1850-1857.
17. Manara R, Rocco MC, D'agata L, et al. Neuroimaging changes in Menkes disease, Part 2. AJNR Am J Neuroradiol, 2017, 38(10): 1858-1865.
18. Vairo F, Chwal BC, Perini S, et al. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease. Mol Genet Metab, 2019, 126(1): 6-13.

Journal of Epilepsy

Clinical characteristics of Menkes disease

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