MENKES DISEASE: REPORT OF TWO CASES

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BARZEGAR MOHAMMAD; FAYAZI AFSHIN; GHASEMI BAB ELAH; SHOJA M.A.

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Journal: Iranian Journal of Pediatrics Year:2007 | Volume:17 | Issue:4 Page(s): 388-392

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Title

MENKES DISEASE: REPORT OF TWO CASES

Author(s)

BARZEGAR MOHAMMAD | FAYAZI AFSHIN | GHASEMI BAB ELAH | SHOJA M.A. | Issue Writer Certificate

Keywords

MENKES DISEASEQ3

COPPER METABOLISMQ3

EPILEPSYQ4

PILI TORTIQ3

CEREBRAL DEGENERATIONQ3

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.

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APA: Copy

BARZEGAR, MOHAMMAD, FAYAZI, AFSHIN, GHASEMI, BAB ELAH, & SHOJA, M.A.. (2007). MENKES DISEASE: REPORT OF TWO CASES. IRANIAN JOURNAL OF PEDIATRICS, 17(4), 388-392. SID. https://sid.ir/paper/76103/en

Vancouver: Copy

BARZEGAR MOHAMMAD, FAYAZI AFSHIN, GHASEMI BAB ELAH, SHOJA M.A.. MENKES DISEASE: REPORT OF TWO CASES. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2007;17(4):388-392. Available from: https://sid.ir/paper/76103/en

IEEE: Copy

MOHAMMAD BARZEGAR, AFSHIN FAYAZI, BAB ELAH GHASEMI, and M.A. SHOJA, “MENKES DISEASE: REPORT OF TWO CASES,” IRANIAN JOURNAL OF PEDIATRICS, vol. 17, no. 4, pp. 388–392, 2007, [Online]. Available: https://sid.ir/paper/76103/en

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