Sindrome "cabeça de pássaro" de Seckel: estudo pneumencefalografico e hormonal de um caso

Schulz, Israel Salmen; Rodrigues, Jayme; Pompeu, Fernando; Povoa Filho, Helion; Teixeira, Ivan; Ribeiro, Sergio; Faria, Fernando

doi:10.1590/S0004-282X1975000300012

Resumos

Relato de um caso de síndrome de Seckel apresentando resultados pneumencefalográficos e hormonais dignos de registro. As dosagens hormonais indicaram a existência de um distúrbio na atividade do hormônio de crescimento, havendo estímulo acima do normal do H.G.H. e inatividade sobre a curva dos ácidos graxos não saturados. O registro pneumencefalográfico de atrofia das circunvoluções cerebrais é o primeiro a ser publicado em paciente com síndrome de Seckel, podendo ser considerado como uma confirmação dos achados anátomo-patológicos relatados por McKusick (mierocefalia pongidea).

A case of Seckel's syndrome in which the results of hormonal tests and pneumoencephalography findings are worth relating is reported. The hormonal dosages have shown a disorder in the growth hormone activity with an over normal stimulus of the H.C.H. and its inefficacy over the N.E.F.A. (non esterefied free acids) curve. Pneumoencephalographic examination has shown cortico-cerebral atrophy reported for the first time in a case of Seckel's syndrome; this result may be considered as confirming the pathological findings reported by McKusick (microcephaly pongidae).

Sindrome "cabeça de pássaro" de Seckel. Estudo pneumencefalografico e hormonal de um caso

Seckel's syndrome: pneumoencephalographic and hormonal study of a case

Israel Salmen Schulz^I; Jayme Rodrigues^II; Fernando Pompeu^III; Helion Povoa Filho^IV; Ivan Teixeira^V; Sergio Ribeiro^V; Fernando Faria^V

^IDocente livre de Neurologia e médico do Hospital Estadual Miguel Couto

^IIDocente livre de Endocrinologia da U.F.R.J.

^IIIProfessor Titular de Neurologia du U.E.G. e chefe do Serviço do H.E.M.C.

^IVProfessor Titular de Bioquímica da Universidade Gama Filho

^VNeurologistas do H.E.M.C.

RESUMO

Relato de um caso de síndrome de Seckel apresentando resultados pneumencefalográficos e hormonais dignos de registro. As dosagens hormonais indicaram a existência de um distúrbio na atividade do hormônio de crescimento, havendo estímulo acima do normal do H.G.H. e inatividade sobre a curva dos ácidos graxos não saturados. O registro pneumencefalográfico de atrofia das circunvoluções cerebrais é o primeiro a ser publicado em paciente com síndrome de Seckel, podendo ser considerado como uma confirmação dos achados anátomo-patológicos relatados por McKusick (mierocefalia pongidea).

SUMMARY

A case of Seckel's syndrome in which the results of hormonal tests and pneumoencephalography findings are worth relating is reported. The hormonal dosages have shown a disorder in the growth hormone activity with an over normal stimulus of the H.C.H. and its inefficacy over the N.E.F.A. (non esterefied free acids) curve. Pneumoencephalographic examination has shown cortico-cerebral atrophy reported for the first time in a case of Seckel's syndrome; this result may be considered as confirming the pathological findings reported by McKusick (microcephaly pongidae).

Texto completo disponível apenas em PDF.

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Hospital Miguel Couto Serviço de Neurologia 20000 Rio de Janeiro, RJ Brasil.

Nota dos autores Agradecemos ao Dr. Felício Jahara. que gentilmente nos ajudou no exame pneumencefalográfico da paciente.

1. BAILEY, J. A. Disproportionate Short Stature. W. B. Saunders. Philadelphia-London-Toronto. 1973.
2. BLACK, J. Low birth weigth dwarfism. Arch. Childhood 36:633. 1961.
3. BRANDON, M. W. G.; KIRMAN. B. H. & WILLIAMS, C. E. Microcephaly J. Mental Sc. 105:721, 1959.
4. CATT, K. J. Endocrinologia Fundamental. Versão castelhana. Edif. Toray. Barcelona, 1973.
5. CHANDRA, R. K.; KAVERAMA, B.; SUSHMA & CHAWLA. V. K. - Dwarfism. Indian J. Pediat. 34:54, 1968.
6. CRUZ, F. F. de la Bird-headed dwarf: a case report. Am. J. Defidiency 68:54, 1963.
7. ELDERS, M. J.; DAUGHADAY, A.: WHITNEY, J. E. & HUGHES. E. R. Laron's dwarfism: studies on the nature of the defect. J. Pediatr. 82:253, 1973.
8. ESHET, R.; LARON, Z.; BROWN, M. & ARMON, R. Immunoreative properties of the plasma HGH from patientes with the syndrome of familial dwarfism and high plasma IR-HGH. J. cl. Endocrinol. Metab. 37:819, 1973.
9. FITCH, N.; PINSKY, L. & LACHANCE, R. I. A form of bird-headed dwarfism with feature of premature senility. Amer. J. Dis. Child. 120:260, 1970.
10. FRANÇOIS, J. A. New syndrome. Arch of Ophtalmology 60:841, 1958.
11. GELLIS, S. S. & FEINGOLD, M. Picture of the month. Am. J. Dis. Child. 114:583, 1967.
12. GILFORD, H. Ateliosis and progeria. Brit. med. J. 2:914, 1904.
13. HARPER, R. G.; ORTI, E. & BAHER, R. K. Bird-headed dwarfs (Seckel's syndrome). J. Pediatrics 70:799, 1967.
14. HILLMAN, J. C; HAMMOND, J.; NOÉ, O. & REISS, M. Endocrine investigations in De Lange and Seckel's syndromes. Am. J. Mental deficiency 73:30. 1968.
15. KEITH, C. G.; DOBBS, R. H.; SHAW, D. G. & COTTRALL, K. Abnormal facies, and short stature. Arch of Dis. Childh. 47:787, 1972.
16. LARON, Z.; PERTZELAN, A. & MANNHEIMER, S. Genetic pituitary dwarfism with hight serum concentration of growth hormone. A new error of metabolism? Israel J. Med. Sc. 2:152, 1966.
17. LARON, Z.; KARP, M.; PERTZELAN, A.; KAULI, R.; KERET, R. & DORON, M. Growth and growth hormones. Proc. Second International Symposium of Growth Hormone. Editors A. Pecile-E. E. Müller, Milano, 1971.
18. LOH, R. G. K. & TAN, D. S. L. An unusual case of progeria-like dwarfism with bilateral macular coloboma. Amer. J. Ophtalmol. 70:968, 1970.
19. MANN, T. P. & RUSSELL, A. Study of a microcephalic midget of extreme type. Proc. Royal Soc. Med. 52:1024. 1959.
20. MATTOS, J. P. & FREITAS, M. R. G. Bird-headed dwarf. A case report. Neurobiol. (Recife) 36:101, 1973.
21. MCKUSIK, V. A.; MAHLOUDJI, M.; ABBOTT, M. H.; LINDENGERG, R. & KEPAS, D. Seckel's bird-headed dwarfism. New England J. Med. 277:179, 1967.
22. MELVIN, K. E. W. & HARTOG, M. Acute metabolic response to human growth hormone in diferent types of dwarfism. British Med. J. 3:196, 1967.
23. MERIMEE, T. J.; RIMOIN, D. L.; HALL, J. & McKUSICK, V. A. A metabolic and hormonal basis for classifying ateliotic dwarfs. Lancet I (7602): 963, 1969.
24. NUÑES, E.; STUARDO, M. C. & FRIAS, J. Sindroma de Seckel. Rev. Chil. Pediatr. 42:117, 1971.
25. RIMOIN, D. L. & SCHIMAKE, R. N. Genetic disorders of the endocrine glands, 1971.
26. SAUK, J. J.; LIFT, R.; ESPIRITU, C. E. & DELANEY, J. R. Familial birdheaded dwarfism (Seckel's syndrome). J. Medic. Genet. 10:196, 1973.
27. SECKEL, H. P. G. Irregularites of bone maturation in congenitally malformed children. Ann. Paediat. 181:147, 1953.
28. SECKEL, H. P. G. Bird-headed Dwarfs. S. Karger A. G., Basel, 1960.
29. SMITH, D. W. Compendium of shortness of stature. J. Pediatrics 70:482, 1967.
30. STIMMLER, L. & BROWN, G. A. Growth hormone secretion provoked by insulin-induced hypoglicemia in children of short stature. Arch. Dis. Childh. 42:232, 1961.
31. UTHNE, K. Human somatomedinas: purification and some studies on their biological actions. Acta endocrinol. (Stockolm) Supl. 175, 1973.
32. TZAGOURINS, M.; GEORGE, J. & HERROLD, J. Increased growth hormone in partial and total lipoatrophy. J. Amer. Diab. Ass. 22:388, 1973.
33. VAN WYK, J. J.; UNDERWOOD, E. E.; LISTER, R. C.; MARSHALL, R. N. & CHAPEL, H. The somatomedins: a new class of growth-regulating hormones? American J. Dis. Child. 126:705, 1973.
34. VERGEZ, A.; DHERMY, P. & COSSON, C. Syndrome de Seckel s'accompagnant d'un décollement retinien bilateral par fibroplasie rétro-lentale. Arch. Ophtal. (Paris) 26:355, 1966.

Datas de Publicação

Publicação nesta coleção
05 Abr 2013
Data do Fascículo
Set 1975

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

[1] 1. BAILEY, J. A. Disproportionate Short Stature. W. B. Saunders. Philadelphia-London-Toronto. 1973.

[2] 2. BLACK, J. Low birth weigth dwarfism. Arch. Childhood 36:633. 1961.

[3] 3. BRANDON, M. W. G.; KIRMAN. B. H. & WILLIAMS, C. E. Microcephaly J. Mental Sc. 105:721, 1959.

[4] 4. CATT, K. J. Endocrinologia Fundamental. Versão castelhana. Edif. Toray. Barcelona, 1973.

[5] 5. CHANDRA, R. K.; KAVERAMA, B.; SUSHMA & CHAWLA. V. K. - Dwarfism. Indian J. Pediat. 34:54, 1968.

[6] 6. CRUZ, F. F. de la Bird-headed dwarf: a case report. Am. J. Defidiency 68:54, 1963.

[7] 7. ELDERS, M. J.; DAUGHADAY, A.: WHITNEY, J. E. & HUGHES. E. R. Laron's dwarfism: studies on the nature of the defect. J. Pediatr. 82:253, 1973.

[8] 8. ESHET, R.; LARON, Z.; BROWN, M. & ARMON, R. Immunoreative properties of the plasma HGH from patientes with the syndrome of familial dwarfism and high plasma IR-HGH. J. cl. Endocrinol. Metab. 37:819, 1973.

[9] 9. FITCH, N.; PINSKY, L. & LACHANCE, R. I. A form of bird-headed dwarfism with feature of premature senility. Amer. J. Dis. Child. 120:260, 1970.

[10] 10. FRANÇOIS, J. A. New syndrome. Arch of Ophtalmology 60:841, 1958.

[11] 11. GELLIS, S. S. & FEINGOLD, M. Picture of the month. Am. J. Dis. Child. 114:583, 1967.

[12] 12. GILFORD, H. Ateliosis and progeria. Brit. med. J. 2:914, 1904.

[13] 13. HARPER, R. G.; ORTI, E. & BAHER, R. K. Bird-headed dwarfs (Seckel's syndrome). J. Pediatrics 70:799, 1967.

[14] 14. HILLMAN, J. C; HAMMOND, J.; NOÉ, O. & REISS, M. Endocrine investigations in De Lange and Seckel's syndromes. Am. J. Mental deficiency 73:30. 1968.

[15] 15. KEITH, C. G.; DOBBS, R. H.; SHAW, D. G. & COTTRALL, K. Abnormal facies, and short stature. Arch of Dis. Childh. 47:787, 1972.

[16] 16. LARON, Z.; PERTZELAN, A. & MANNHEIMER, S. Genetic pituitary dwarfism with hight serum concentration of growth hormone. A new error of metabolism? Israel J. Med. Sc. 2:152, 1966.

[17] 17. LARON, Z.; KARP, M.; PERTZELAN, A.; KAULI, R.; KERET, R. & DORON, M. Growth and growth hormones. Proc. Second International Symposium of Growth Hormone. Editors A. Pecile-E. E. Müller, Milano, 1971.

[18] 18. LOH, R. G. K. & TAN, D. S. L. An unusual case of progeria-like dwarfism with bilateral macular coloboma. Amer. J. Ophtalmol. 70:968, 1970.

[19] 19. MANN, T. P. & RUSSELL, A. Study of a microcephalic midget of extreme type. Proc. Royal Soc. Med. 52:1024. 1959.

[20] 20. MATTOS, J. P. & FREITAS, M. R. G. Bird-headed dwarf. A case report. Neurobiol. (Recife) 36:101, 1973.

[21] 21. MCKUSIK, V. A.; MAHLOUDJI, M.; ABBOTT, M. H.; LINDENGERG, R. & KEPAS, D. Seckel's bird-headed dwarfism. New England J. Med. 277:179, 1967.

[22] 22. MELVIN, K. E. W. & HARTOG, M. Acute metabolic response to human growth hormone in diferent types of dwarfism. British Med. J. 3:196, 1967.

[23] 23. MERIMEE, T. J.; RIMOIN, D. L.; HALL, J. & McKUSICK, V. A. A metabolic and hormonal basis for classifying ateliotic dwarfs. Lancet I (7602): 963, 1969.

[24] 24. NUÑES, E.; STUARDO, M. C. & FRIAS, J. Sindroma de Seckel. Rev. Chil. Pediatr. 42:117, 1971.

[25] 25. RIMOIN, D. L. & SCHIMAKE, R. N. Genetic disorders of the endocrine glands, 1971.

[26] 26. SAUK, J. J.; LIFT, R.; ESPIRITU, C. E. & DELANEY, J. R. Familial birdheaded dwarfism (Seckel's syndrome). J. Medic. Genet. 10:196, 1973.

[27] 27. SECKEL, H. P. G. Irregularites of bone maturation in congenitally malformed children. Ann. Paediat. 181:147, 1953.

[28] 28. SECKEL, H. P. G. Bird-headed Dwarfs. S. Karger A. G., Basel, 1960.

[29] 29. SMITH, D. W. Compendium of shortness of stature. J. Pediatrics 70:482, 1967.

[30] 30. STIMMLER, L. & BROWN, G. A. Growth hormone secretion provoked by insulin-induced hypoglicemia in children of short stature. Arch. Dis. Childh. 42:232, 1961.

[31] 31. UTHNE, K. Human somatomedinas: purification and some studies on their biological actions. Acta endocrinol. (Stockolm) Supl. 175, 1973.

[32] 32. TZAGOURINS, M.; GEORGE, J. & HERROLD, J. Increased growth hormone in partial and total lipoatrophy. J. Amer. Diab. Ass. 22:388, 1973.

[33] 33. VAN WYK, J. J.; UNDERWOOD, E. E.; LISTER, R. C.; MARSHALL, R. N. & CHAPEL, H. The somatomedins: a new class of growth-regulating hormones? American J. Dis. Child. 126:705, 1973.

[34] 34. VERGEZ, A.; DHERMY, P. & COSSON, C. Syndrome de Seckel s'accompagnant d'un décollement retinien bilateral par fibroplasie rétro-lentale. Arch. Ophtal. (Paris) 26:355, 1966.