Sindrome de Sotos: registro de dois casos

Reimão, Rubens N. A. de A.; Marques-Dias, Maria Joaquina

doi:10.1590/S0004-282X1980000200005

Resumos

A síndrome de Sotos ou gigantismo cerebral é uma entidade rara caracterizada por crescimento excessivo na infância, dismorfias crânio-faciais e atraso no desenvolvimento neuropsicomotor. Os autores apresentam dois casos típicos dando ênfase aos achados clínicos e laboratoriais.

Sotos' sydrome or cerebral gigantism is a rare entity with advanced linear growth, mental retardation and characteristic facies. Two new cases are reported. Clinical, roentgenographic and laboratory findings are discussed.

Sindrome de Sotos: registro de dois casos

Sotos syndrome: report of two cases

Rubens N. A. de A. Reimão^I; Maria Joaquina Marques-Dias^II

^IMédico residente. Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo

^IIMédico assistente, neuropediatra do Instituto da Criança da Fac. Med. da Universidade de Sâo Paulo. Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo

RESUMO

A síndrome de Sotos ou gigantismo cerebral é uma entidade rara caracterizada por crescimento excessivo na infância, dismorfias crânio-faciais e atraso no desenvolvimento neuropsicomotor. Os autores apresentam dois casos típicos dando ênfase aos achados clínicos e laboratoriais.

SUMMARY

Sotos' sydrome or cerebral gigantism is a rare entity with advanced linear growth, mental retardation and characteristic facies. Two new cases are reported. Clinical, roentgenographic and laboratory findings are discussed.

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Trabalho da Clinica Neurológica do Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo.

Clinica Neurológica, Departamento de Neuropsiquiatria - Faculdade de Medicina da Universidade de São Paulo - Caixa Postal 8461 - 01000 São Paulo, SP - Brasil.

1. ABRAHAM, J. M. & SNODGRASS, J. A. I. - Soto's syndrome of cerebral gigantism. Arch. Dis. Child. 44:203, 1969.
2. BEJAR, R. L.; SMITH, G. F.; PARK, S.; SPELLACY, W. N.; WOLFSON, S. L. & NYHAN, W. L - Cerebral gigantism: concentrations of amino acids in plasma and muscle. J. Pediat. 76:105, 1970.
3. BOSCHERINI, B.; Dl PIERO, G.; NATOLI, G.; PRESTI, A.; RUTILONI, C. & ZAPELLA, M. - Cerebral gigantism in childhood: report of two cases. Helv. Paediat. Acta 23:384, 1968.
4. COHEN, M. I. - Cerebral gigantism in childhood. New Eng. J. Med. 271:635, 1964.
5. GARDNER-MEDWIN, D. - Cerebral gigantism. Develop. Med. Child Neurol. 11: 796, 1969.
6. GAUDIER, B.; FRANCHIMONT, P.; PONTÉ, C; NUYTS, J. P. & RYCKEWAERT, Ph. - Lé gigantisme cerebral: a propos d'une observation avec étude de la fonction somatotrope. Pediatrie 24:325, 1969.
7. GELLIS, S. S. & PEINGOLD, M. - Cerebral gigantism (Sotos syndrome) Am. J. Die. Child. 131:579, 1977.
8. GEMELLI, M.; DE LUCCA, F. & MAGAZZÚ, G. - La sindrome di Sotos. Minerva Pediatr. 28:2147, 1976.
9. GINTER, D. N. & SCOTT, C. I. - Cerebral gigantism. In Malformation Syndromes, 1975, Daniel Bergsman (Ed.). New York pp. 415-422.
10. GOUMY, P.; MALPUECH, G.; GANNAT, M. & MENUT, G. - Gigantisme cerebral familial: une nouvelle observation à transmission autossomique dominante. Pediatrie 34:249, 1979.
11. HANSEN, F. J. & FRIIS, B. - Familial occurence of cerebral gigantism, Sotos' syndrome. Acta Paediatr. Scancl. 65:387, 1976.
12. HOOFT, C; SCHOTTE, H. & VAN HORREN, G. - Gigantism cerebral familial. Acta Paediatr. Belg. 22:173, 1968.
13. HOOK, E. B. & REYNOLDS, J. W. - Cerebral gigantism: endocrinological and clinical observations of six patients including a congenital giant, concordant monozygotic twins and a child who achieved adult gigantic size. J. Pediat. 70: 900, 1967.
14. JAEKEN, J.; VAN DER SCHUEREN-LODEWEYCKX, M. & EECKELS, R. - Cerebral gigantism syndrome: a report of four cases and review of the literature. Z. Kinderheilk 112:332, 1972 citado por Sotos & Cutler 20.
15. KJELLMAN, B. - Cerebral gigantism. Acta Pediat. Scand. 54:603, 1965.
16. KRAUEL, X.; BERGER, R. & AMIEL-TISON, C. - Gigantisme cerebral: deux cas familiaux. J. Génét. Hum. 25:205, 1977.
17. LA CAUZA, C; NICOTINA, P. A. & CALZOLARI, C. - La sindrome di Sotos (Gigantismo cerebrale): Contributo clinico. Minerva Pediatr. 25:791, 1973.
18. LE MAREC, B. & LECORNU, M. - L'etude des dermatoglyphes: un signe utile pour le diagnostic de gigantisme cerebral. Pédiatrie 31:497, 1976.
19. MACE, J. W. & GOTLIN, R. W. - Cerebral gigantism: triad of findings helpful in diagnosis. Pediatr. (Philadelphia) 9:662, 1970.
20. MAES, B.; CARON, J.; COUCHOT, J.; GROSS, A. & LEUTENEGGER, M. - Gigantisme cerebral: revue de la literature à propôs d'un cas. Sem. Hosp. Paris 52:1537, 1976.
21. MARCONDES, E. - Conceito e classificação dos distúrbios do crescimento. Rev. Hosp. Clin. Fac. Med. Sfio Paulo 30:490, 1975.
22. MARIE, J.; FOYER. P.; LAVÈQUE, B.; DEBAUCHEZ, C. & RAPPAPORT, R. - Gigantisme avec encéphalopathie et dysmorphic cranio-faciale. Ann. Pediat. 12: 682, 1965.
23. MILUNSKY, A.; COWIE, V. A. & DONOGHUE, E. C. - Cerebral gigantism in childhood: a report of two cases and a review of the literature. Pediatrics 40:395, 1967.
24. OTT, J. E. & ROBINSON, A. - Cerebral gigantism. Am. J. Dis. Child. 117:357, 1969.
25. PASCUAL-CASTROVIEJJO & JUNCO AGUADO, E. - Gigantismo cerebrale. Minerva Pediatr. 25:1245, 1973.
26. POZNANSKI, A. K. & STEPHEN SON, J. M. - Radiographic findings in hipothalamic acceleration of growth associated with cerebral atrophy and mental retardation (cerebral gigantism). Radiology 88:446, 1967.
27. SIZONENKO, P. C; JOB, J. C; SEBOUK, S. & BOSSIER, A. - Gigantisme cerebral de l'enfant: dosage de Thormone de croissance dans le plasma. Arch. Pranç. Péd. 25:151, 1968.
28. SOTOS, J. F.; DODGE, P. R.; MUIRHEAD, D.; CRAWFORD, J. D. & TALBOT, N. E. - Cerebral gigantism in childhood. New Eng. J. Med. 271:109, 1964.
29. SOTOS, J. F. & CUTLER, E. A. - Cerebral gigantism. (Sotos syndrome). Am. J. Dis. Child. 131:579, 1977.
30. STEPHENSON, J. N.; MELLINGER, R. C. & MANSON, G. - Cerebral gigantism. Pediatrics 41:130, 1968.
31. STOLL, C; LUCKEL, J. C. & JUIF, J. G. - Le gigantisme cerebral: propôs d'un cas avec etude de la fonction somatotrope. Pédiatrie 26:869, 1971.
32. TOWNES, P. L. - Cerebral gigantism. J. Med. Gen. 13:80, 1976.
33. YUNES, J. & MARCONDES, E. - Classificação de desnutrição. Rev. Hosp. Clin. Fac. Med. Sfto Paulo 30:484, 1975.
34. ZAPPELLA, M. & BOSCHERINI, B. - Considerations a proposi de sept cas de gigantisme cerebral (syndrome de Sotos). Pediatrie 28:419, 1978.
35. ZONANA, J.; SOTOS, J. F.; ROMSHE, C. A.; FISHER, D. A.; ELDERS, M. J. & RIMOIN, D. L. - Dominant inheritance of cerebral gigantism. J. Pediati 91:251, 1977.

Datas de Publicação

Publicação nesta coleção
23 Ago 2012
Data do Fascículo
Jun 1980

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

[1] 1. ABRAHAM, J. M. & SNODGRASS, J. A. I. - Soto's syndrome of cerebral gigantism. Arch. Dis. Child. 44:203, 1969.

[2] 2. BEJAR, R. L.; SMITH, G. F.; PARK, S.; SPELLACY, W. N.; WOLFSON, S. L. & NYHAN, W. L - Cerebral gigantism: concentrations of amino acids in plasma and muscle. J. Pediat. 76:105, 1970.

[3] 3. BOSCHERINI, B.; Dl PIERO, G.; NATOLI, G.; PRESTI, A.; RUTILONI, C. & ZAPELLA, M. - Cerebral gigantism in childhood: report of two cases. Helv. Paediat. Acta 23:384, 1968.

[4] 4. COHEN, M. I. - Cerebral gigantism in childhood. New Eng. J. Med. 271:635, 1964.

[5] 5. GARDNER-MEDWIN, D. - Cerebral gigantism. Develop. Med. Child Neurol. 11: 796, 1969.

[6] 6. GAUDIER, B.; FRANCHIMONT, P.; PONTÉ, C; NUYTS, J. P. & RYCKEWAERT, Ph. - Lé gigantisme cerebral: a propos d'une observation avec étude de la fonction somatotrope. Pediatrie 24:325, 1969.

[7] 7. GELLIS, S. S. & PEINGOLD, M. - Cerebral gigantism (Sotos syndrome) Am. J. Die. Child. 131:579, 1977.

[8] 8. GEMELLI, M.; DE LUCCA, F. & MAGAZZÚ, G. - La sindrome di Sotos. Minerva Pediatr. 28:2147, 1976.

[9] 9. GINTER, D. N. & SCOTT, C. I. - Cerebral gigantism. In Malformation Syndromes, 1975, Daniel Bergsman (Ed.). New York pp. 415-422.

[10] 10. GOUMY, P.; MALPUECH, G.; GANNAT, M. & MENUT, G. - Gigantisme cerebral familial: une nouvelle observation à transmission autossomique dominante. Pediatrie 34:249, 1979.

[11] 11. HANSEN, F. J. & FRIIS, B. - Familial occurence of cerebral gigantism, Sotos' syndrome. Acta Paediatr. Scancl. 65:387, 1976.

[12] 12. HOOFT, C; SCHOTTE, H. & VAN HORREN, G. - Gigantism cerebral familial. Acta Paediatr. Belg. 22:173, 1968.

[13] 13. HOOK, E. B. & REYNOLDS, J. W. - Cerebral gigantism: endocrinological and clinical observations of six patients including a congenital giant, concordant monozygotic twins and a child who achieved adult gigantic size. J. Pediat. 70: 900, 1967.

[14] 14. JAEKEN, J.; VAN DER SCHUEREN-LODEWEYCKX, M. & EECKELS, R. - Cerebral gigantism syndrome: a report of four cases and review of the literature. Z. Kinderheilk 112:332, 1972 citado por Sotos & Cutler 20.

[15] 15. KJELLMAN, B. - Cerebral gigantism. Acta Pediat. Scand. 54:603, 1965.

[16] 16. KRAUEL, X.; BERGER, R. & AMIEL-TISON, C. - Gigantisme cerebral: deux cas familiaux. J. Génét. Hum. 25:205, 1977.

[17] 17. LA CAUZA, C; NICOTINA, P. A. & CALZOLARI, C. - La sindrome di Sotos (Gigantismo cerebrale): Contributo clinico. Minerva Pediatr. 25:791, 1973.

[18] 18. LE MAREC, B. & LECORNU, M. - L'etude des dermatoglyphes: un signe utile pour le diagnostic de gigantisme cerebral. Pédiatrie 31:497, 1976.

[19] 19. MACE, J. W. & GOTLIN, R. W. - Cerebral gigantism: triad of findings helpful in diagnosis. Pediatr. (Philadelphia) 9:662, 1970.

[20] 20. MAES, B.; CARON, J.; COUCHOT, J.; GROSS, A. & LEUTENEGGER, M. - Gigantisme cerebral: revue de la literature à propôs d'un cas. Sem. Hosp. Paris 52:1537, 1976.

[21] 21. MARCONDES, E. - Conceito e classificação dos distúrbios do crescimento. Rev. Hosp. Clin. Fac. Med. Sfio Paulo 30:490, 1975.

[22] 22. MARIE, J.; FOYER. P.; LAVÈQUE, B.; DEBAUCHEZ, C. & RAPPAPORT, R. - Gigantisme avec encéphalopathie et dysmorphic cranio-faciale. Ann. Pediat. 12: 682, 1965.

[23] 23. MILUNSKY, A.; COWIE, V. A. & DONOGHUE, E. C. - Cerebral gigantism in childhood: a report of two cases and a review of the literature. Pediatrics 40:395, 1967.

[24] 24. OTT, J. E. & ROBINSON, A. - Cerebral gigantism. Am. J. Dis. Child. 117:357, 1969.

[25] 25. PASCUAL-CASTROVIEJJO & JUNCO AGUADO, E. - Gigantismo cerebrale. Minerva Pediatr. 25:1245, 1973.

[26] 26. POZNANSKI, A. K. & STEPHEN SON, J. M. - Radiographic findings in hipothalamic acceleration of growth associated with cerebral atrophy and mental retardation (cerebral gigantism). Radiology 88:446, 1967.

[27] 27. SIZONENKO, P. C; JOB, J. C; SEBOUK, S. & BOSSIER, A. - Gigantisme cerebral de l'enfant: dosage de Thormone de croissance dans le plasma. Arch. Pranç. Péd. 25:151, 1968.

[28] 28. SOTOS, J. F.; DODGE, P. R.; MUIRHEAD, D.; CRAWFORD, J. D. & TALBOT, N. E. - Cerebral gigantism in childhood. New Eng. J. Med. 271:109, 1964.

[29] 29. SOTOS, J. F. & CUTLER, E. A. - Cerebral gigantism. (Sotos syndrome). Am. J. Dis. Child. 131:579, 1977.

[30] 30. STEPHENSON, J. N.; MELLINGER, R. C. & MANSON, G. - Cerebral gigantism. Pediatrics 41:130, 1968.

[31] 31. STOLL, C; LUCKEL, J. C. & JUIF, J. G. - Le gigantisme cerebral: propôs d'un cas avec etude de la fonction somatotrope. Pédiatrie 26:869, 1971.

[32] 32. TOWNES, P. L. - Cerebral gigantism. J. Med. Gen. 13:80, 1976.

[33] 33. YUNES, J. & MARCONDES, E. - Classificação de desnutrição. Rev. Hosp. Clin. Fac. Med. Sfto Paulo 30:484, 1975.

[34] 34. ZAPPELLA, M. & BOSCHERINI, B. - Considerations a proposi de sept cas de gigantisme cerebral (syndrome de Sotos). Pediatrie 28:419, 1978.

[35] 35. ZONANA, J.; SOTOS, J. F.; ROMSHE, C. A.; FISHER, D. A.; ELDERS, M. J. & RIMOIN, D. L. - Dominant inheritance of cerebral gigantism. J. Pediati 91:251, 1977.