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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 17, No. 4, 2007, pp. 388-392
Bioline Code: pe07073
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 17, No. 4, 2007, pp. 388-392

 en Case Report - Menkes Disease: Report of Two Cases
Barzegar, Mohammad; Fayyazie, Afshin; Gasemie, Bobollah & Shoja, Mohammad ali Mohajel

Abstract


Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is characterized by progressive cerebral degeneration with psychomotor deterioration, hypothermia, seizures and characteristic facial appearance with hair abnormalities.
Case Presentation: We report on two cases of classical Menkes disease with typical history, (progressive psychomotor deterioration and seizures}, clinical manifestations (cherubic appearance, with brittle, scattered and hypopigmented scalp hairs), and progression. Light microscopic examination of the hair demonstrated the pili torti pattern. The low serum copper content and ceruloplasmin confirmed the diagnosis.
Conclusion: Menkes disease is an under-diagnosed entity, being familiar with its manifestation and maintaining high index of suspicion are necessary for early diagnosis.

Keywords
Menkes disease, Copper metabolism, Epilepsy, Pili torti, Cerebral degeneration

 
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