Menkes kinky hair disease: An unusual case

European Journal of Paediatric Neurology

Volumn 4, Issue 3, 2000, Pages 131-134

  Jayawant, Sandeep ^a   Halpin, Shawn ^a   Wallace, Sheila ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

Kinky hair disease; Menkes disease; X linked recessive disease of copper metabolism

Indexed keywords

COPPER;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CHROMOSOME XP; CLINICAL FEATURE; COPPER BLOOD LEVEL; COPPER METABOLISM; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; HUMAN; HYPOTHERMIA; MALE; MENKES SYNDROME; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; WEIGHT GAIN; WHITE MATTER; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 0034194864     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2000.0281     Document Type: Article

References (22)

1. Aicardi J. Diseases of the Nervous System in Childhood 2nd Edn. pp. 306-308. Cambridge: Cambridge University, MacKeith Press 1998.
2. Kaler SG. Metabolic and molecular bases of menkes disease and occipital horn syndrome. Pediat Develop Pathol 1998; 1: 85-98.
3. Vulpe C, Levinson B, Whitney S et al. Isolation of a candidate gene for menkes disease and evidence that it encodes a copper-transporting atpase. Nature Genet 1993; 3: 7-13.
4. Yoshimura N, Hatayama I, Nishimura M. Complete recovery of cytochrome oxidase and superoxide dismutase activities in the brain of brindled mice receiving copper therapy. J Intellect Disab Res 1993; 37: 561-567.
5. Meguro Y, Kodama H, Abe T et al. Changes of copper level and cytochrome c oxidase activity in the macular mouse with age. Brain Dev 1991; 13: 184-186.
6. Sparaco M, Hirano M, Dimauro S, Bonilla E. Cytochrome c oxidase deficiency and neuronal involvement in menkes kinky hair disease: Immunohistochemical study. Brain Pathol 1993; 3: 349- 354.
7. Gacheru S, McGee C, Uriu-Hare JY et al. Expression and accumulation of lysyl oxidase, elastin and type 1 procollagen in human menkes and mottled mouse fibroblasts. Arch Biochem Biophys 1993; 301: 325-329.
8. Laventer RJ, Kornberg AJ, Phelan EM et al. Early magnetic resonance imaging findings in menkes disease.sJ Child Neurol 1997; 12: 222-224.
9. Menkes JH. 'kinky hair disease: Twenty five years later'. Brain Dev 1988; 10: 77-79.
10. Danks DM. Disorders of copper transport. In: Scriven CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Basis Of Inherited Disease 7th Edn. pp. 2211-2235. New York: McGraw Hill, 1995.
11. Menkes 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.
12. Danks DM, Campbell PE, Stevens BJ et al. Menkes kinky hair syndrome. Pediatrics 1972; 2: 188-201.
13. Ichihashi K, Yano S, Kobayashi S et al. Serial imaging of menkes' disease. Neuroradiology 1990; 32: 56-59.
14. Johnsen DE, Coleman L, Poe L. MR of progressive neurodegenerative change in treated menkes' kinky hair disease. Neuroradiology 1991; 33: 181-182.
15. Takahashi S, Ishii K, Matsumoto K et al. Cranial MRI and MR angiography in menkes' syndrome. Neuroradiology 1993; 35: 556-558.
16. Jacobs DS, Smith AS, Finelli DA et al. Menkes' kinky hair disease: Characteristic MR angiographic findings. Am J Neuroradiol 1993; 14: 1160-1163.
17. Seay AR, Bray PF, Wing SD et al. CT scans in menkes disease. Neurology 1979; 29: 304-312.
18. Grover MD, Johnson WC, Henkin RI. Clinical and biochemical aspects of trichopoliodystrophy. Ann Neurol 1979; 5: 65-71.
19. Marina R, Pero G, Pavone L, Scialfa G. Computed tomography in menkes' disease. Acta Neurol (Napoli) 1981; 36: 429-434.
20. Kim OH, Suh JH. Intracranial and extracranial MR angiography in menkes disease. Pediat Radiol 1997; 27: 782-784.
21. Geller TJ, Pan Y, Martin DS. Early neuroradiologic evidence of degeneration in menkes' disease. Pediat Neurol 1997; 17: 255-258.
22. Martin JJ, Flament-Durand J, Farriaux P et al. Menkes kinky-hair disease. A report on its pathology. Acta Neuropath (Berl) 1978; 42: 25-32.