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A case of Menkes syndrome with cataracts

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Abstract

A 2-year and 9-month-old boy with Menkes syndrome is reported. In addition to the typical features of this syndrome our patient had bilateral cataracts. The relation between abnormal copper metabolism and cataract is discussed.

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References

  1. Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E (1972) Menkes's kinky hair syndrome, an inherited defect in copper absorption with widespread effects. Pediatrics 50:188–201

    Google Scholar 

  2. Heyne K, Dörner K, Graucob E, Wiedemann HR (1978) Monophyle Vakuolisierung von Promyelozyten bei Menkes-Syndrom (Trichopoliodystrophie). Klin Pädiat 190:576–579

    Google Scholar 

  3. Kohn BA (1976) The differential diagnosis of cataracts in infancy and childhood. Am J Dis Child 130:184–192

    Google Scholar 

  4. Lott IT, Dipaolo R, Raghavan SS, Clopath P, Milunsky A, Rovertson WC, Kanfer JN (1979) Abnormal copper metabolism in Menkes' steely hair syndrome. Pediat Res 13:845–850

    Google Scholar 

  5. Murata T, Taura Y (1975) Study of trace metallic elements in the lens. Ophthal Res 7:8–14

    Google Scholar 

  6. Österberg R (1980) Physiology and pharmacology of copper. Pharmac Ther 9:121–146

    Google Scholar 

  7. Raćz P, Ördögh M (1977) Investigations of trace elements in normal and senile cataractous lenses. Albrecht von Graefes Arch Klin Ophthalmol 204:67–72

    Google Scholar 

  8. Seelenfreund MH, Gartner S, Vinger PF (1968) The ocular pathology of Menkes' disease. Arch Ophthal 80:718–720

    Google Scholar 

  9. Shinohara T, Piatigorsky J (1977) Regulation of protein synthesis, intracellular electrolytes and cataract formation in vitro. Nature 270:406–411

    Google Scholar 

  10. Singh S, Bresnan MJ (1973) Menkes kinky-hair syndrome (Trichopoliodystrophy). Am J Dis Child 125:572–578

    Google Scholar 

  11. Swanson AA, Truesdale AW (1971) Elemental analysis in normal and cataractous human lens tissue. Biochem Biophys Res Commun 45:1488–1496

    Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, School of Medicine, Hiroshima University, Kasumi-cho 1-2-3, Hiroshima, Japan

    T. Sakano, N. Okuda, K. Yoshimitsu, S. Hatano, Y. Nishi, T. Tanaka & T. Usui

Authors
  1. T. Sakano
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  2. N. Okuda
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  3. K. Yoshimitsu
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  4. S. Hatano
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  5. Y. Nishi
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  6. T. Tanaka
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  7. T. Usui
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Sakano, T., Okuda, N., Yoshimitsu, K. et al. A case of Menkes syndrome with cataracts. Eur J Pediatr 138, 357–358 (1982). https://doi.org/10.1007/BF00442519

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  • DOI: https://doi.org/10.1007/BF00442519

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