Menkes' disease: Case report

Arquivos de Neuro-Psiquiatria

Volumn 65, Issue 1, 2007, Pages 157-160

  Agertt, Fabio ^a   Crippa, Ana C S ^a   Lorenzoni, Paulo J ^a   Scola, Rosana H ^a   Bruck, Isac ^a   De Paola, Luciano ^a   Silvado, Carlos E ^a   Werneck, Lineu C ^a  

^a FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

Ceruloplasmin; Copper; Menkes' disease

Indexed keywords

CERULOPLASMIN; COPPER; PHENOBARBITAL; VALPROIC ACID;

ANAMNESIS; ARTICLE; ATROPHY; CASE REPORT; CELLULAR DISTRIBUTION; CERULOPLASMIN BLOOD LEVEL; CLINICAL FEATURE; COPPER BLOOD LEVEL; DIAGNOSTIC IMAGING; DISEASE COURSE; ELECTROENCEPHALOGRAM; EPILEPSY; GENETIC ANALYSIS; HAIR; HUMAN; INFANT; LABORATORY DIAGNOSIS; MALE; MENKES SYNDROME; MOTOR NERVE CONDUCTION; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PROTEIN TRANSPORT; SEIZURE; WHITE MATTER;

EID: 34147105442     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2007000100032     Document Type: Article

References (22)

1. Aicardi J. Menkes disease (kinky hair disease, steely hair disease, trichopoliodystrophy). In Aicardi J (Ed). Diseases of the nervous system in childhood (second edition). London: Mac Keith Press, 1998:306-308.
2. Kaler SG. Menkes disease. Adv Pediatr 1994;41:263-304.
3. Bankier A. Menkes disease. J Med Genet 1995;32:213-215.
4. Menkes JH, Alter M, Steigleder GK, et al. Asex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962;29:764-779.
5. Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 1999;41:423-429.
6. Werneck LC. O valor da biópsia muscular em neurologia: análise de 290 exames a fresco e pela histoquímica. Rev Bras Clin Ter 1981;10 (Suppl):S2-S24.
7. Chelly J, Tumer Z, Tonnesen T, et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993;3:14-19.
8. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 1993;3:7-13.
9. Vulpe CD, Packman S. Cellular copper transport. Annu Rev Nutr 1995;15:293-322.
10. Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr 2002;34:363-371.
11. Jayawant S, Halpin S, Wallace S. Menkes kinky hair disease: an unusual case. Eur J Paediatr Neurol 2000;4:131-134.
12. Venta-Sobero JA, Porras-Kattz E, Gutierrez-Moctezuma J. West syndrome as an epileptic presentation in Menkes' disease: two cases report. Rev Neurol 2004;39:133-136.
13. Mandelstam SA, Fisher R. Menkes disease: a rare cause of bilateral inguinal hernias. Australas Radiol 2005;49:192-195.
14. Gu YH, Kodama H, Shiga K, et al. Asurvey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis. J Inherit Metab Dis 2005;28:473-478.
15. White SR, Reese K, Sato S, Kaler SG. Spectrum of EEG findings in Menkes disease. Electroencephalogr Clin Neurophysiol 1993;87:57-61.
16. Guitet M, Campistol J, Medina M. Enfermedad de Menkes: experiencia en el tratamiento con sales de cobre. Rev Neurol 1999;29:127-130.
17. Santos LMG, Teixeira CS, Vilanova LCP, et al. Menkes disease: case report of an uncommon presentation with white matter lesions. Arq Neuropsiquiatr 2001;59:125-127.
18. Morgello S, Peterson HD, Kahn LJ, Laufer H. Menkes kinky hair disease with 'ragged red' fibers. Dev Med Child Neurol 1988;30:812-816.
19. Pedespan JM, Jouaville LS, Cances C, et al. Menkes disease: study of the mitochondrial respiratory chain in three cases. Eur J Paediatr Neurol 1999;3:167-170.
20. Jacobs DS, Smith AS, Finelli DA, Lanzieri CF, Wiznitzer M. Menkes kinky hair disease: characteristic MR angiographic findings. Am J Neuroradiol 1993;14:1160-1163.
21. Amato AA, Dumitru D. Hereditary myopathies. In Dumitru D, Amato AA, Zwarts MJ (Eds). Electrodiagnostic medicine (second edition). Philadelphia: Hanley & Belfus, 2002:1346.
22. Meyer BU, Britton TC, Benecke R. Wilson's disease: normalization of cortically evoked motor responses with treatment. J Neurol 1991;238:327-330.