Syndrome de Leopard, distúrbio da crista neural: relato de um caso

Peixoto, Marco Aurelio Lana; Perpetuo, Francisco O. L.; Souza, Roscicler P. De; Miranda, Dairton; Loures, Ciro G.

doi:10.1590/S0004-282X1981000200010

Resumos

A síndrome de Leopard é uma condição autosoma dominante de variável expressão fenotípica. Uma minoria apenas dos pacientes apresenta todos os componentes da síndrome, ou seja, lentigenes múltiplas (L), alterações eletrocardiográficos (E), hipertelorismo ocular (O), estenose pulmonar (P), anormalidades genitais (A), retardo de crescimento (R), e surdez neurosensorial (D). Descrevemos o caso de uma criança com todos os componentes da síndrome além de outras anomalias não descritas anteriormente, tais como macroglossia, alterações dentárias, megacolon, ectopia anal e hipertrofia do clitoris, impressão basilar e platibasia. A presença de alterações dentárias e megacolon, representando envolvimento das papilas dentárias e de plexo mioentérico, derivados da crista neural, constitui nova evidência que favorece a hipótese de ser a síndrome de Leopard resultante de anomalia dos elementos da crista neural.

A case of Leopard syndrome with full clinical expression is reported. In addition to the cardinal signs of the syndrome this patient presented some abnormalities which have not been previously described such as macroglossia, multiple dental anomalies, basilar impression and platybasia, megacolon, hypertrophy of clitoris and anal ectopy. The presence of dental anomalies and megacolon may represent involvement of the dental papillae and myenteric plexus favoring the view that the syndrome results from a derangement of the neural crest elements.

Leopard syndrome, a neural crest disorder: a case report

Syndrome de Leopard, distúrbio da crista neural: relato de um caso

Marco Aurelio Lana Peixoto^I; Francisco O. L. Perpetuo^I; Roscicler P. De Souza^II; Dairton Miranda^I; Ciro G. Loures^I

^IAssistant Professor. From the Department of Neurology, Federal University of Minas Gerais Medical School and Instituto Hilton Rocha, Belo Horizonte, Brasil

^IIResident in Neurology. From the Department of Neurology, Federal University of Minas Gerais Medical School and Instituto Hilton Rocha, Belo Horizonte, Brasil

SUMMARY

A case of Leopard syndrome with full clinical expression is reported. In addition to the cardinal signs of the syndrome this patient presented some abnormalities which have not been previously described such as macroglossia, multiple dental anomalies, basilar impression and platybasia, megacolon, hypertrophy of clitoris and anal ectopy. The presence of dental anomalies and megacolon may represent involvement of the dental papillae and myenteric plexus favoring the view that the syndrome results from a derangement of the neural crest elements.

RESUMO

A síndrome de Leopard é uma condição autosoma dominante de variável expressão fenotípica. Uma minoria apenas dos pacientes apresenta todos os componentes da síndrome, ou seja, lentigenes múltiplas (L), alterações eletrocardiográficos (E), hipertelorismo ocular (O), estenose pulmonar (P), anormalidades genitais (A), retardo de crescimento (R), e surdez neurosensorial (D). Descrevemos o caso de uma criança com todos os componentes da síndrome além de outras anomalias não descritas anteriormente, tais como macroglossia, alterações dentárias, megacolon, ectopia anal e hipertrofia do clitoris, impressão basilar e platibasia. A presença de alterações dentárias e megacolon, representando envolvimento das papilas dentárias e de plexo mioentérico, derivados da crista neural, constitui nova evidência que favorece a hipótese de ser a síndrome de Leopard resultante de anomalia dos elementos da crista neural.

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Departamento de Neurologia, Faculdade de Medicina da Universidade Federal de Minas Gerais - Av. Alfredo Balena, 190 - 30000 Belo Horizonte, MG - Brasil.

1. CAPPON, D. - A case of unilateral lentigenes with mental deficiency. Brit. J. Derm. 60:371, 1948.
2. CAPUTE, A. J.; RIMOIN, D. L.; KONIGSMARK, B. W.; ESTERLY, N. B. & RICHARDSON, F. - Congenital deafness and multiple lentigenes. Arch. Derm. 100:207, 1969.
3. DOCIU, I.; GALACTION-NITELEA, O.; SIRJITA, N. & MURGU, V. - La lentiginose centro-faciale de Touraine: a propos de 7 cas. Prèsse Méd. 79:1111, 1971.
4. FORNEY, W. R.; ROBINSON, S. J. & PASCOE, D. J. - Congenital heart disease, deafness and skeletal malformations: a new syndrome? J. Pediatr. 68:14, 1966.
5. FALACTION-NITELEA, O. & DOCIU, I. - Lentiginosis et anomalies de development. Dermatologica 148:108, 1974.
6. GORLIN, R. J.; ANDERSON, R. C. & BLAW, M. - Multiple lentigenes syndrome. Amer. J. Dis. Child. 117:652, 1965.
7. GORLIN. R. J.; ANDERSON, R. C. & MOLLER, J. H. - The Leopard (multiple lentigenes) syndrome revisited. Laryngoscope 81:1674, 1974.
8. KRAUNZ, R. F. & BLACK M AN, J. R. - Cardiocutaneous syndrome continued. New Eng. J. Med. 279:325, 1968.
9. KOROXENIDES, G. T.; WEBB, N. D. Jr.; MOSCHOS, C. B. & LEHAN, P. B. - Congenital heart disease, deaf-mutism and associated somatic malformations occuring in several members of one family. Amer. J. Med. 40:615, 1970.
10. LASSONDE, M.; TRUDEAU, J. G. & GIRARD, C. - Generalized lentigenes associated with multiple congenital defect (Leopard syndrome). Canad. Med. Ass. J. 103:293, 1970.
11. LEIDER, M. & ROSENBLUM, M. - A dictionary of Dermatologlcal Words, Terms and Phrases. McGraw-Hill, New York, 1968.
12. LEVER, W. F. - Histopatology of the Skin. Lippincot, Philadelphia, 1967.
13. LYNCH, P. J. - Leopard syndrome. Arch. Derm. 107:119, 1970.
14. MACEWEN, G. B. & ZAHARKOW, W. - Multiple lentigenes syndrome: a case report of a rare familial syndrome with orthopaedic considerations. Clin. Orthop. 97:34, 1973.
15. MATTHEWS, N. L. - Lentigo and electrocardiographic changes. New Eng. J. Med. 278:780, 1968.
16. MOYNAHAN, E. J. - Multiple symmetrical moles, with psychic and somatic infantilism and genital hypoplasia: first male case of a new syndrome. Proc. Roy, Soc. Med. 55:959, 1962.
17. MOYNAHAN, E. J. - Progressive cardiomyopathy lentiginosis: first report of autopsy findings in a recently recognized inheritable disorder (autosomal dominant). Proc. Roy. Soc. Med. 63:448, 1970.
18. MOYNAHAN, B. J. & POLANI, P. - Progressive profuse lentiginosis, progressive cardiomyopathy, small stature and other developmental anomalies: a new familial syndrome. XIII International Dermatology Congress, Springer-Verlag, Munich, 1967.
19. NORDLUND, J. J.; LERNER, A. B.; BRAVERMAN, I. M. & MCGUYRE, J. S. - The multiple lentigenes syndrome. Arch. Derm. 107:259, 1973.
20. PERNOT, C; WORMS, A. M. & HENRY, M. - Les syndromes cardio-cutanées génétiques. Nouv. Prèsse Méd. 36:2395, 1973.
21. PICKERING, D.; LASKI, B.; MACMILLAN, D. C. & ROSE, V. - "Little leopard" syndrome: description of 3 cases and review of 24. Arch. Dis. Child. 46:85, 1971.
22. PIPKIN, A. C. & PIPKIN, S. B. - A pedigree of generalized lentigo. J. Hered. 41:79, 1950.
23. POLANI, P. E. & MOYNAHAN, E. J. - Progressive cardiomyopathy lentiginosis. Quart. J. Med. 41:205, 1972.
24. SELMANOWITZ, V. J. - Lentiginosis profusa syndrome (multiple lentigenes syndrome). Acta. Derm. (Stockolm) 51:387, 1971.
25. SELMANOWITZ, V. J. & ORENTREICH, N. - Lentiginosis profusa in daughter and mother: multiple granular cell "myoblastomas" in the former. Arch. Derm. 107:615, 1970.
26. SELMANOWITZ. V. J.; ORENTREICH, N. & FELSENSTEIN, J. M. - Lentiginosis profuse syndrome (Multiple lentigenes syndrome). Arch. Derm. 104:393, 197L
27. SMITH, R. F.; PULICICCHIO, L. F. & HOLMES, A. V. - Generalized lentigo: electrocardiographic abnormalities, conduction disorders and arrhythmias in three cases. Amer. J. Cardiol. 25:501, 1970.
28. SOMERVILLE, J. & BONHAM-CARTER, R. E. - The heart in lentigiosis. Brit. Heart. J. 34:58, 1972.
29. SOMMER, A.; CONTRAS, S. B.; CRAENEN, J. M. & HOSIER, D. M. - A family study of the leopard syndrome. Amer. J. Dis. Child. 121:520, 1973.
30. TOURAINE, A. - La melanoblastose neurocutanée. Bull. Soc. Franc. Derm. Syph. 51:421, 1941.
31. VICKERS, M. R. & MACMILLAN, D. C. - Profuse lentiginosis, minor cardiac abnormalities and small stature. Proc. Roy. Soc. Med. 62:1011, 1969.
32. WAANSON, S. L.; SANTEN, R. J. 6k SMITH, D. W. - Multiple lentigenes syndrome: new findings of hypogonadotrophism, hyposmia and unilateral renal agenesis. J. Pediatr. 78:1037, 1971.
33. WALTHER, R. J. - Cardiocutaneous syndrome. New Eng. J. Med. 278:1127, 1968.
34. WALTHER, R. J.; POLANSKI, R. J. & GROTS, I. A. - Electrocardiographic abnormalities in a family with generalized lentigo. New Eng. J. Med. 275:1220, 1968.
35. WATSON, G. H. - Pulmonary stenosis, café-au-lait spots, and dull intelligence. Arch. Dis. Child. 42:303, 1967.
36. ZEISLER, E. P., & BECKER, S. W. - Generalized lentigo: its relation to systemic nonelevated nevi. Arch. Derm. Syph. 33:109, 1936.

Datas de Publicação

Publicação nesta coleção
20 Ago 2012
Data do Fascículo
Jun 1981

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

[1] 1. CAPPON, D. - A case of unilateral lentigenes with mental deficiency. Brit. J. Derm. 60:371, 1948.

[2] 2. CAPUTE, A. J.; RIMOIN, D. L.; KONIGSMARK, B. W.; ESTERLY, N. B. & RICHARDSON, F. - Congenital deafness and multiple lentigenes. Arch. Derm. 100:207, 1969.

[3] 3. DOCIU, I.; GALACTION-NITELEA, O.; SIRJITA, N. & MURGU, V. - La lentiginose centro-faciale de Touraine: a propos de 7 cas. Prèsse Méd. 79:1111, 1971.

[4] 4. FORNEY, W. R.; ROBINSON, S. J. & PASCOE, D. J. - Congenital heart disease, deafness and skeletal malformations: a new syndrome? J. Pediatr. 68:14, 1966.

[5] 5. FALACTION-NITELEA, O. & DOCIU, I. - Lentiginosis et anomalies de development. Dermatologica 148:108, 1974.

[6] 6. GORLIN, R. J.; ANDERSON, R. C. & BLAW, M. - Multiple lentigenes syndrome. Amer. J. Dis. Child. 117:652, 1965.

[7] 7. GORLIN. R. J.; ANDERSON, R. C. & MOLLER, J. H. - The Leopard (multiple lentigenes) syndrome revisited. Laryngoscope 81:1674, 1974.

[8] 8. KRAUNZ, R. F. & BLACK M AN, J. R. - Cardiocutaneous syndrome continued. New Eng. J. Med. 279:325, 1968.

[9] 9. KOROXENIDES, G. T.; WEBB, N. D. Jr.; MOSCHOS, C. B. & LEHAN, P. B. - Congenital heart disease, deaf-mutism and associated somatic malformations occuring in several members of one family. Amer. J. Med. 40:615, 1970.

[10] 10. LASSONDE, M.; TRUDEAU, J. G. & GIRARD, C. - Generalized lentigenes associated with multiple congenital defect (Leopard syndrome). Canad. Med. Ass. J. 103:293, 1970.

[11] 11. LEIDER, M. & ROSENBLUM, M. - A dictionary of Dermatologlcal Words, Terms and Phrases. McGraw-Hill, New York, 1968.

[12] 12. LEVER, W. F. - Histopatology of the Skin. Lippincot, Philadelphia, 1967.

[13] 13. LYNCH, P. J. - Leopard syndrome. Arch. Derm. 107:119, 1970.

[14] 14. MACEWEN, G. B. & ZAHARKOW, W. - Multiple lentigenes syndrome: a case report of a rare familial syndrome with orthopaedic considerations. Clin. Orthop. 97:34, 1973.

[15] 15. MATTHEWS, N. L. - Lentigo and electrocardiographic changes. New Eng. J. Med. 278:780, 1968.

[16] 16. MOYNAHAN, E. J. - Multiple symmetrical moles, with psychic and somatic infantilism and genital hypoplasia: first male case of a new syndrome. Proc. Roy, Soc. Med. 55:959, 1962.

[17] 17. MOYNAHAN, E. J. - Progressive cardiomyopathy lentiginosis: first report of autopsy findings in a recently recognized inheritable disorder (autosomal dominant). Proc. Roy. Soc. Med. 63:448, 1970.

[18] 18. MOYNAHAN, B. J. & POLANI, P. - Progressive profuse lentiginosis, progressive cardiomyopathy, small stature and other developmental anomalies: a new familial syndrome. XIII International Dermatology Congress, Springer-Verlag, Munich, 1967.

[19] 19. NORDLUND, J. J.; LERNER, A. B.; BRAVERMAN, I. M. & MCGUYRE, J. S. - The multiple lentigenes syndrome. Arch. Derm. 107:259, 1973.

[20] 20. PERNOT, C; WORMS, A. M. & HENRY, M. - Les syndromes cardio-cutanées génétiques. Nouv. Prèsse Méd. 36:2395, 1973.

[21] 21. PICKERING, D.; LASKI, B.; MACMILLAN, D. C. & ROSE, V. - "Little leopard" syndrome: description of 3 cases and review of 24. Arch. Dis. Child. 46:85, 1971.

[22] 22. PIPKIN, A. C. & PIPKIN, S. B. - A pedigree of generalized lentigo. J. Hered. 41:79, 1950.

[23] 23. POLANI, P. E. & MOYNAHAN, E. J. - Progressive cardiomyopathy lentiginosis. Quart. J. Med. 41:205, 1972.

[24] 24. SELMANOWITZ, V. J. - Lentiginosis profusa syndrome (multiple lentigenes syndrome). Acta. Derm. (Stockolm) 51:387, 1971.

[25] 25. SELMANOWITZ, V. J. & ORENTREICH, N. - Lentiginosis profusa in daughter and mother: multiple granular cell "myoblastomas" in the former. Arch. Derm. 107:615, 1970.

[26] 26. SELMANOWITZ. V. J.; ORENTREICH, N. & FELSENSTEIN, J. M. - Lentiginosis profuse syndrome (Multiple lentigenes syndrome). Arch. Derm. 104:393, 197L

[27] 27. SMITH, R. F.; PULICICCHIO, L. F. & HOLMES, A. V. - Generalized lentigo: electrocardiographic abnormalities, conduction disorders and arrhythmias in three cases. Amer. J. Cardiol. 25:501, 1970.

[28] 28. SOMERVILLE, J. & BONHAM-CARTER, R. E. - The heart in lentigiosis. Brit. Heart. J. 34:58, 1972.

[29] 29. SOMMER, A.; CONTRAS, S. B.; CRAENEN, J. M. & HOSIER, D. M. - A family study of the leopard syndrome. Amer. J. Dis. Child. 121:520, 1973.

[30] 30. TOURAINE, A. - La melanoblastose neurocutanée. Bull. Soc. Franc. Derm. Syph. 51:421, 1941.

[31] 31. VICKERS, M. R. & MACMILLAN, D. C. - Profuse lentiginosis, minor cardiac abnormalities and small stature. Proc. Roy. Soc. Med. 62:1011, 1969.

[32] 32. WAANSON, S. L.; SANTEN, R. J. 6k SMITH, D. W. - Multiple lentigenes syndrome: new findings of hypogonadotrophism, hyposmia and unilateral renal agenesis. J. Pediatr. 78:1037, 1971.

[33] 33. WALTHER, R. J. - Cardiocutaneous syndrome. New Eng. J. Med. 278:1127, 1968.

[34] 34. WALTHER, R. J.; POLANSKI, R. J. & GROTS, I. A. - Electrocardiographic abnormalities in a family with generalized lentigo. New Eng. J. Med. 275:1220, 1968.

[35] 35. WATSON, G. H. - Pulmonary stenosis, café-au-lait spots, and dull intelligence. Arch. Dis. Child. 42:303, 1967.

[36] 36. ZEISLER, E. P., & BECKER, S. W. - Generalized lentigo: its relation to systemic nonelevated nevi. Arch. Derm. Syph. 33:109, 1936.