Síndrome de Menkes: revisão da patogenia a propósito de um caso anatomo clínico

Reed, Umbertina C.; Rosemberg, Sergio; Diament, Aron J.; Scaff, Milberto; Canelas, Horacio M.; Lefèvre, Antonio B.

doi:10.1590/S0004-282X1984000300010

Resumos

É relatado um caso de síndrome de Menkes, que acreditamos ser o primeiro descrito no Brasil. O paciente, menino de 15 meses, apresentava, desde o quinto mês de vida, pili torti, grave involução do desenvolvimento neuropsicomotor e síndrome convulsiva. Os exames complementares evidenciaram ceruloplasmina e cobre séricos baixos, alterações arteriais e intensa atrofia cerebral difusa. O exame necroscópico confirmou este último aspecto, observando-se despopulação neuronal nas camadas mediocorticais do cérebro, no tálamo e sobretudo no cerebelo, sede de lesões intensas e particulares em nível cortical. Acredita-se que a síndrome de Menkes, de herança recessiva ligada ao sexo, seja devida a um erro inato do metabolismo do cobre, primário ou secundário a alterações variáveis das proteínas que permitem o transporte de cobre aos diferentes tecidos. Os autores revisam os principais aspectos etiopatogênicos referidos na literatura.

The authors report a case of Menkes' syndrome, probably the first one described in Brazil. The patient, a 15-month-old boy, showed pili torti, early progressive psychomotor deterioration and seizures. Serum levels of ceruloplasmin and copper were very low. Neuroradiological and roentgenological examinations revealed diffuse cerebral atrophy, arterial changes and bone abnormalities. At the post-mortem examination the more consistent findings were cerebral atrophy, neuronal loss in the thalamus and above all cerebellar cortical lesions. The disease has a sex-linked recessive inheritance and is believed to be caused by an inborn error of copper metabolism, perhaps subordinated to changes of proteins which carry copper to different tissues. The relevant literature in relation to the pathogenesis is reviewed.

Síndrome de Menkes: revisão da patogenia a propósito de um caso anatomo clínico

Menkes' syndrome: a review of the pathogenesis and report of a clinico-pathologic case

Umbertina C. Reed^I; Sergio Rosemberg^II; Aron J. Diament^III; Milberto Scaff^III; Horacio M. Canelas^IV; Antonio B. Lefèvre^IV

^IProfessor Assistente, Departamento de Neuropsiquiatria

^IIProfessor Livre-Docente, Departamento de Patologia

^IIIProfessor Livre-Docente, Departamento de Neuropsiquiatria

^IVProfessor Titular, Departamento de Neuropsiquiatria

RESUMO

É relatado um caso de síndrome de Menkes, que acreditamos ser o primeiro descrito no Brasil. O paciente, menino de 15 meses, apresentava, desde o quinto mês de vida, pili torti, grave involução do desenvolvimento neuropsicomotor e síndrome convulsiva. Os exames complementares evidenciaram ceruloplasmina e cobre séricos baixos, alterações arteriais e intensa atrofia cerebral difusa. O exame necroscópico confirmou este último aspecto, observando-se despopulação neuronal nas camadas mediocorticais do cérebro, no tálamo e sobretudo no cerebelo, sede de lesões intensas e particulares em nível cortical.

Acredita-se que a síndrome de Menkes, de herança recessiva ligada ao sexo, seja devida a um erro inato do metabolismo do cobre, primário ou secundário a alterações variáveis das proteínas que permitem o transporte de cobre aos diferentes tecidos. Os autores revisam os principais aspectos etiopatogênicos referidos na literatura.

SUMMARY

The authors report a case of Menkes' syndrome, probably the first one described in Brazil. The patient, a 15-month-old boy, showed pili torti, early progressive psychomotor deterioration and seizures. Serum levels of ceruloplasmin and copper were very low. Neuroradiological and roentgenological examinations revealed diffuse cerebral atrophy, arterial changes and bone abnormalities. At the post-mortem examination the more consistent findings were cerebral atrophy, neuronal loss in the thalamus and above all cerebellar cortical lesions. The disease has a sex-linked recessive inheritance and is believed to be caused by an inborn error of copper metabolism, perhaps subordinated to changes of proteins which carry copper to different tissues. The relevant literature in relation to the pathogenesis is reviewed.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Trabalho dos Departamentos de Neuropsiquiatria e de Patologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP).

Clínica Neurológia, FMUSP - Caixa Postal 3461 - 01000, São Paulo, SP - Brasil

1. AGUILLAR, M. J.; CHADWICK, D. L.; OKUYAMA, K. & KAMOSHITA, S. - Kinki hair disease. I: Clinical and pathological features. J. Neuropath, exp. Neurol. 25:507, 1966.
2. BUCKNALL, W. F.; HOSLOM, R. H. A. & HOLTZMAN, N. A. - Kinky hair syndrome: response to copper therapy. Pediatrics 52:653, 1973.
3. BANKS, P. M.; CAMPBELL, P. E.; STEVENS B. J.; MAYNE, V. & CARTW-RIGHT, E. - Menkes kinky hair syndrome: an inherited defect in copper absorption with widespread effects. Pediatrics 50:188, 1972.
4. DANKS, D. M.; CARTWRIGHT, E.; CAMPBELL, P. E. & MAYNE, V. - Is Menkes syndrome a heritable disorder of connective tissue? Lancet 2:1089, 1971.
5. DANXS, D. M.; CARTWRIGHT, E.; STEVENS, B. J. & TOWNLEY, R. R. M; - Menkes kinky hair disease: further definition of the defect in copper transport. Science 179:1140, 1973.
6. DANKS, D. M.; STEVENS, B. J.; CAMPBELL, P. E.; GILLESPIE, J. WALKER-SMITH, J.; BLOOMFIELD, J. & TURNER, B. - Menkes kinky-hair syndrome. Lancet 1:1100, 1972.
?. DANKS, D. M.; STEVENS, B. J.; CARTWRIGHT, E. & RADFORD, I. - Menkes syndrome (steely-hair disease): further observations on the defect in copper metabolism. Illème Symposium International sur la Maladie de Wilson, Paris, 1973.
8. DEKABAN, A. S.; AAMODT, R.; RUMBLE, W. F.; JOHNSTON, G. S. & O'REILLY, S. - Kinky hair disease: study of copper metabolism with, use of 67Cu. Arch. Neurol. (Chicago) 32:672, 1975.
9. DEKABAN, A. S. & STEUSING, J. K. - Menkes kinky hair disease treated With subcutaneous copper sulphate. Lancet 2:1523, 1974.
10. FRENCH, J. H.; SHERARD, E. S.; LUBELL, H.; BROTZ, M. & MOORE, C. L. - Trichopoliodystrophy: report of a case and biochemical studies. Arch. Neurol. (Chicago) 26:229, 1972.
11. FRIEDMAN, E.; HARDEN, A.; KOIVIKKO, M. & PAMPIGLIONE, G-. - Menkes disease: neurophysiological aspects. J. Neurol. Neurosurg Psychiat. 41:505, 1978.
12. GARNICA, A. D. & FLETCHER, S. R. - Parenteral copper in Menkes kinky-hair syndrome. Lancet 2:659, 1975.
13. GARNICA, A. D.; FRIAS, J. L. & RENNERT, O. M. - Menkes kinky hair syndrome: is it a treatable disorder? Clin. Genet. 11:154, 1977.
14. GARNICA, A. D.; FRIAS, J. L.; RENNERT, O. M. & LEVY, S. - Steely hair syndrome and copper. New Engl. J. Med. 292:1192, 1975.
15. GHATAK, N. R.; HIRANO, A.; POON, T. P. A FRENCH, J. H. - Trichopoliodystrophy. II: Pathological changes in skeletal muscle and nervous system. Arch. Neurol. (Chicago) 26:60, 1972.
16. GOKA, T. J.; STEVENSON, R. E.; HEFFERAN, P. M. & HOWELL, R. R. - Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc. matl. Acad. Sci. USA 73:604, 1976.
17. GROVER, W. D.; JOHNSON, W. C. & HENKIN, R. I. - Clinical and biochemical aspects of trichopoliodystrophy. Ann. Neurol. 5:62, 1979.
18. GROVER, W. D. & SCRUTTON, M. C. - The effect of prolonged intravenous therapy on copper metabolism in trichopoliodystrophy. Pediat. Res. 8:389, 1974.
19. GROVER, W. D. & SCRUTTON, M. C, - Copper infusion therapy in thichopoliodystrophy. J. Pediat. 86:216, 1975.
20. HAAS, R. H.; ROBINSON, A.; EVANS, K.; LASCELLES, P. T. & DUBOWITZ, V. - An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. Neurology (NΎ) 31:852, 1981.
21. HIRANO A.; LLENA, J. F.; FRENCH, J. H. & GHATAK, R. - Fine structure of the cerebellar cortex in Menkes kinky-hair disease: X-chromosome-linked copper malabsorption. Arch. Neurol. (Chicago) 34:52, 1977.
22. HOLTZMAN, N. A. - Menkes kinky hair syndrome: a genetic disease involving copper. Fedn. Proc. Fedn. Am. Socs. exp. Biol. 35:2276, 1976.
23. HORN, N.; MIKKELSEN, M.; HEYDORN, K.; DAMSGAARD, E. & TYGSTRUP, I. - Copper and steely hair. Lancet 1:1236, 1975.
24. HUNT, D. M. - Primary defect in copper transport underlies mottled mutants in the mouse. Nature 249:852, 1974.
25. IWAKAWA, Y.; NTWA, T. & TOMITA, M. - Menkes kinky hair syndrome: report on an autopsy case and his female sibling with similar clinical manifestations. Brain Develop. 11:260, 1979.
26. KOPP, N.; TOMMASI, M.; CARRIER, H.; PIALAT, J.; GILLY, J. & HERVE C. - Neuropathologie de la trichopoliodystrophie (maladie de Menkes): une observation anatomo-cliniquie. Rev. neurol. (Paris) 11:775, 1975.
27. LABADIE, G. U.; HIRSCHHORN, K.; KATZ, S. i& BERATIS, N. G. - Increased copper metallothionein in Menkes cultured skin fibroblasts. Pediat. Res. 15:257, 1981.
28. LOTT, I. T.; DIPAOLO, R.; SCHWARTZ, D.; JANOWSKA, S. & KANFER, J. N. -Copper metabolism in the steely-hair syndrome. New Engl. J. Med. 292: 197, 1975.
29. MARTIN, J. J.; FLAMENT-DURAND, J.; FARRIAUX, J. P.; BUYSSENS, N.; KETELBANT-BALASSE, P. & JANSEN, C. - Menkes kinky-hair disease: a report on its pathology. Acta neuropath. 42:25, 1978.
30. MENKES, J. H.; ALTER, M.; STEIGLEDER, G. K.; WEAKLEI, D. R. & SUNG, ^J- H. - A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29:764, 1962.
31. NOOIJEN, J. L.; De GROOT, C. J.; VAN DEN HAMER, C. J. A.; MONNENS, A. H.; WILLENSE, J. & NIERMEIJER, F. - Trace elements studies in three patients and a fetus with Menkes disease: effect of copper therapy. Pediat. Res. 15:284, 1981.
32. O'BRIEN, J. S.; SAMPSON, E. - Kinky hair disease. II. Biochemical studies. J. Neuropath, exp. Neurol. 25:523, 1966.
33. OSAKA, K.; SATO, N.; MATSUMOTO, S.; OGINO, H.; KODAMA, S.; YOKOYAMA, S. & SUGIYAMA, T. -. Congenital hypocupraemia syndrome with and without steely-hair; report of two Japanese infants. Develop. Med. Child Neurol. 19:62, 1977.
34. PROCOPIS, P. - A mild form of Menkes steely hair syndrome. J. Pediat. 98:97, 1981
35. PROHASKA, J. R. & WELLS, W. W. - Copper deficiency in the developing rat brain: a possible model for Menkes' steely-hair disease. J. Neurochem. 23:91, 1974.
36. SASS-KORTSAK, A. & BEARN, A. G. - Hereditary disorders of copper metabolism. In J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein & M. S. Brown (eds): The Metabolic Basis of Inherited Disease. Mc Graw-Hill, New York, 1983, p. 1261.
37. SCHEINBERG, I. H. & STERNLIEB, I. - Steely hair syndrome and copper. New Engl. J. Med. 292:1192, 1975.
38. SEAY, A. R.; BRAY, P. F. & WING, S. P. - CT scans in Menkes disease. Neurology (NY) 29:304, 1979.
39. SINGH, S. & BRESNAN, M. J. - Menkes' kinky hair syndrome (trichopoliodystrophy): low copper levels in the blood, hair and urine. Am. J. Dis. Child. 125:572, 1973.
40. VAGN-HANSEN, P. L.; RESKE-NIELSEN, E. & LOU, H. C. - Menkes' disease, a new leucodystrophy (?): a clinical and neuropathological review together with a new case. Acta neuropath. 25:103, 1973.
41. VUIA, O. & HEYE, D. - Neuropathology aspects in Menkes' kinky hair disease (trichopoliodrystrophy). Neuropädiatrie 5:329, 1974.
42. WALKER-SMITH, J. A.; TURNER, B.; BLOMFIELD, J. & WISE, G. - Therapeutic implications of copper deficiency in Menkes' steely-hair syndrome. Arch. Dis. Childh. 48:958, 1973.
43. WEHINGER, H.; WITT, I.; LOUSEL, L.; DENZ-SEIBERT, G. & SANDER, C. - Intravenous copper in Menkes' kinky-hair syndrome. Lancet 1:1143, 1975.
44. WESENBERG, R. L.; GWINN, J. L. & BARNES, J. R. - Radiological findings in the kinky-hair syndrome. Radiology 92:500, 1969.
45. WHELLER, E. M. & ROBERTS, P. F. - Menkes' steely hair syndrome. Arch. Dis. Childh. 51:269, 1976.
46. WILLIAMS, D. M. & ATKIN, C. L. - Tissue copper concentration of patients with Menkes' kinky hair disease. Am. J. Dis. Child. 135:375, 1981.
47. WILLIAMS, D. M.; ATKIN, C. L.; FRENS, D. B. & BRAY, P. F. - Menkes' kinky hair syndrome: studies of copper metabolism and long-term copper therapy. Pediat. Res. 11:823, 1977.
48. WILLIAMS, R. S.; MARSHALL, P. C; LOTT, I. R. & CAVINESS, V. S. - The cellular pathology of Menkes steely hair syndrome. Neurology (Minneapolis) 28: 575, 1978.

Datas de Publicação

Publicação nesta coleção
13 Ago 2012
Data do Fascículo
Set 1984

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. AGUILLAR, M. J.; CHADWICK, D. L.; OKUYAMA, K. & KAMOSHITA, S. - Kinki hair disease. I: Clinical and pathological features. J. Neuropath, exp. Neurol. 25:507, 1966.

[2] 2. BUCKNALL, W. F.; HOSLOM, R. H. A. & HOLTZMAN, N. A. - Kinky hair syndrome: response to copper therapy. Pediatrics 52:653, 1973.

[3] 3. BANKS, P. M.; CAMPBELL, P. E.; STEVENS B. J.; MAYNE, V. & CARTW-RIGHT, E. - Menkes kinky hair syndrome: an inherited defect in copper absorption with widespread effects. Pediatrics 50:188, 1972.

[4] 4. DANKS, D. M.; CARTWRIGHT, E.; CAMPBELL, P. E. & MAYNE, V. - Is Menkes syndrome a heritable disorder of connective tissue? Lancet 2:1089, 1971.

[5] 5. DANXS, D. M.; CARTWRIGHT, E.; STEVENS, B. J. & TOWNLEY, R. R. M; - Menkes kinky hair disease: further definition of the defect in copper transport. Science 179:1140, 1973.

[6] 6. DANKS, D. M.; STEVENS, B. J.; CAMPBELL, P. E.; GILLESPIE, J. WALKER-SMITH, J.; BLOOMFIELD, J. & TURNER, B. - Menkes kinky-hair syndrome. Lancet 1:1100, 1972.

[7] ?. DANKS, D. M.; STEVENS, B. J.; CARTWRIGHT, E. & RADFORD, I. - Menkes syndrome (steely-hair disease): further observations on the defect in copper metabolism. Illème Symposium International sur la Maladie de Wilson, Paris, 1973.

[8] 8. DEKABAN, A. S.; AAMODT, R.; RUMBLE, W. F.; JOHNSTON, G. S. & O'REILLY, S. - Kinky hair disease: study of copper metabolism with, use of 67Cu. Arch. Neurol. (Chicago) 32:672, 1975.

[9] 9. DEKABAN, A. S. & STEUSING, J. K. - Menkes kinky hair disease treated With subcutaneous copper sulphate. Lancet 2:1523, 1974.

[10] 10. FRENCH, J. H.; SHERARD, E. S.; LUBELL, H.; BROTZ, M. & MOORE, C. L. - Trichopoliodystrophy: report of a case and biochemical studies. Arch. Neurol. (Chicago) 26:229, 1972.

[11] 11. FRIEDMAN, E.; HARDEN, A.; KOIVIKKO, M. & PAMPIGLIONE, G-. - Menkes disease: neurophysiological aspects. J. Neurol. Neurosurg Psychiat. 41:505, 1978.

[12] 12. GARNICA, A. D. & FLETCHER, S. R. - Parenteral copper in Menkes kinky-hair syndrome. Lancet 2:659, 1975.

[13] 13. GARNICA, A. D.; FRIAS, J. L. & RENNERT, O. M. - Menkes kinky hair syndrome: is it a treatable disorder? Clin. Genet. 11:154, 1977.

[14] 14. GARNICA, A. D.; FRIAS, J. L.; RENNERT, O. M. & LEVY, S. - Steely hair syndrome and copper. New Engl. J. Med. 292:1192, 1975.

[15] 15. GHATAK, N. R.; HIRANO, A.; POON, T. P. A FRENCH, J. H. - Trichopoliodystrophy. II: Pathological changes in skeletal muscle and nervous system. Arch. Neurol. (Chicago) 26:60, 1972.

[16] 16. GOKA, T. J.; STEVENSON, R. E.; HEFFERAN, P. M. & HOWELL, R. R. - Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc. matl. Acad. Sci. USA 73:604, 1976.

[17] 17. GROVER, W. D.; JOHNSON, W. C. & HENKIN, R. I. - Clinical and biochemical aspects of trichopoliodystrophy. Ann. Neurol. 5:62, 1979.

[18] 18. GROVER, W. D. & SCRUTTON, M. C. - The effect of prolonged intravenous therapy on copper metabolism in trichopoliodystrophy. Pediat. Res. 8:389, 1974.

[19] 19. GROVER, W. D. & SCRUTTON, M. C, - Copper infusion therapy in thichopoliodystrophy. J. Pediat. 86:216, 1975.

[20] 20. HAAS, R. H.; ROBINSON, A.; EVANS, K.; LASCELLES, P. T. & DUBOWITZ, V. - An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. Neurology (NΎ) 31:852, 1981.

[21] 21. HIRANO A.; LLENA, J. F.; FRENCH, J. H. & GHATAK, R. - Fine structure of the cerebellar cortex in Menkes kinky-hair disease: X-chromosome-linked copper malabsorption. Arch. Neurol. (Chicago) 34:52, 1977.

[22] 22. HOLTZMAN, N. A. - Menkes kinky hair syndrome: a genetic disease involving copper. Fedn. Proc. Fedn. Am. Socs. exp. Biol. 35:2276, 1976.

[23] 23. HORN, N.; MIKKELSEN, M.; HEYDORN, K.; DAMSGAARD, E. & TYGSTRUP, I. - Copper and steely hair. Lancet 1:1236, 1975.

[24] 24. HUNT, D. M. - Primary defect in copper transport underlies mottled mutants in the mouse. Nature 249:852, 1974.

[25] 25. IWAKAWA, Y.; NTWA, T. & TOMITA, M. - Menkes kinky hair syndrome: report on an autopsy case and his female sibling with similar clinical manifestations. Brain Develop. 11:260, 1979.

[26] 26. KOPP, N.; TOMMASI, M.; CARRIER, H.; PIALAT, J.; GILLY, J. & HERVE C. - Neuropathologie de la trichopoliodystrophie (maladie de Menkes): une observation anatomo-cliniquie. Rev. neurol. (Paris) 11:775, 1975.

[27] 27. LABADIE, G. U.; HIRSCHHORN, K.; KATZ, S. i& BERATIS, N. G. - Increased copper metallothionein in Menkes cultured skin fibroblasts. Pediat. Res. 15:257, 1981.

[28] 28. LOTT, I. T.; DIPAOLO, R.; SCHWARTZ, D.; JANOWSKA, S. & KANFER, J. N. -Copper metabolism in the steely-hair syndrome. New Engl. J. Med. 292: 197, 1975.

[29] 29. MARTIN, J. J.; FLAMENT-DURAND, J.; FARRIAUX, J. P.; BUYSSENS, N.; KETELBANT-BALASSE, P. & JANSEN, C. - Menkes kinky-hair disease: a report on its pathology. Acta neuropath. 42:25, 1978.

[30] 30. MENKES, J. H.; ALTER, M.; STEIGLEDER, G. K.; WEAKLEI, D. R. & SUNG, ^J- H. - A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29:764, 1962.

[31] 31. NOOIJEN, J. L.; De GROOT, C. J.; VAN DEN HAMER, C. J. A.; MONNENS, A. H.; WILLENSE, J. & NIERMEIJER, F. - Trace elements studies in three patients and a fetus with Menkes disease: effect of copper therapy. Pediat. Res. 15:284, 1981.

[32] 32. O'BRIEN, J. S.; SAMPSON, E. - Kinky hair disease. II. Biochemical studies. J. Neuropath, exp. Neurol. 25:523, 1966.

[33] 33. OSAKA, K.; SATO, N.; MATSUMOTO, S.; OGINO, H.; KODAMA, S.; YOKOYAMA, S. & SUGIYAMA, T. -. Congenital hypocupraemia syndrome with and without steely-hair; report of two Japanese infants. Develop. Med. Child Neurol. 19:62, 1977.

[34] 34. PROCOPIS, P. - A mild form of Menkes steely hair syndrome. J. Pediat. 98:97, 1981

[35] 35. PROHASKA, J. R. & WELLS, W. W. - Copper deficiency in the developing rat brain: a possible model for Menkes' steely-hair disease. J. Neurochem. 23:91, 1974.

[36] 36. SASS-KORTSAK, A. & BEARN, A. G. - Hereditary disorders of copper metabolism. In J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein & M. S. Brown (eds): The Metabolic Basis of Inherited Disease. Mc Graw-Hill, New York, 1983, p. 1261.

[37] 37. SCHEINBERG, I. H. & STERNLIEB, I. - Steely hair syndrome and copper. New Engl. J. Med. 292:1192, 1975.

[38] 38. SEAY, A. R.; BRAY, P. F. & WING, S. P. - CT scans in Menkes disease. Neurology (NY) 29:304, 1979.

[39] 39. SINGH, S. & BRESNAN, M. J. - Menkes' kinky hair syndrome (trichopoliodystrophy): low copper levels in the blood, hair and urine. Am. J. Dis. Child. 125:572, 1973.

[40] 40. VAGN-HANSEN, P. L.; RESKE-NIELSEN, E. & LOU, H. C. - Menkes' disease, a new leucodystrophy (?): a clinical and neuropathological review together with a new case. Acta neuropath. 25:103, 1973.

[41] 41. VUIA, O. & HEYE, D. - Neuropathology aspects in Menkes' kinky hair disease (trichopoliodrystrophy). Neuropädiatrie 5:329, 1974.

[42] 42. WALKER-SMITH, J. A.; TURNER, B.; BLOMFIELD, J. & WISE, G. - Therapeutic implications of copper deficiency in Menkes' steely-hair syndrome. Arch. Dis. Childh. 48:958, 1973.

[43] 43. WEHINGER, H.; WITT, I.; LOUSEL, L.; DENZ-SEIBERT, G. & SANDER, C. - Intravenous copper in Menkes' kinky-hair syndrome. Lancet 1:1143, 1975.

[44] 44. WESENBERG, R. L.; GWINN, J. L. & BARNES, J. R. - Radiological findings in the kinky-hair syndrome. Radiology 92:500, 1969.

[45] 45. WHELLER, E. M. & ROBERTS, P. F. - Menkes' steely hair syndrome. Arch. Dis. Childh. 51:269, 1976.

[46] 46. WILLIAMS, D. M. & ATKIN, C. L. - Tissue copper concentration of patients with Menkes' kinky hair disease. Am. J. Dis. Child. 135:375, 1981.

[47] 47. WILLIAMS, D. M.; ATKIN, C. L.; FRENS, D. B. & BRAY, P. F. - Menkes' kinky hair syndrome: studies of copper metabolism and long-term copper therapy. Pediat. Res. 11:823, 1977.

[48] 48. WILLIAMS, R. S.; MARSHALL, P. C; LOTT, I. R. & CAVINESS, V. S. - The cellular pathology of Menkes steely hair syndrome. Neurology (Minneapolis) 28: 575, 1978.