Agenesia do cerebelo associada a microcefalia e agiria: relato de um caso autopsiado em recém-nascido e revisão da literatura

Pittella, José Eymard Homem; Nogueira, Ana Margarida Miguel Ferreira

doi:10.1590/S0004-282X1988000400009

Resumos

É apresentado um caso autopsiado de agenesia do cerebelo associada a microcefalia, agiria e deformidades das extremidades e pavilhões auriculares, associação esta até então não relatada na literatura. Este é o sétimo caso de agenesia cerebelar registrado na literatura. Compara-se este caso com os outros previamente publicados e comentam-se os possíveis fatores etiológicos envolvidos bem como a época do aparecimento das malformações encefálicas presentes.

A post-mortem examined case of cerebellar agenesis associated with microcephaly, agyria and deformities of the extremities and of the external ear in a newborn is presented. Such an association has not yet been reported in the literature. This is the seventh case of cerebellar agenesis ever registered in the literature. This case is compared with other previously published cases and the possible etiological factors involved as well as the period during which the cerebral malformations appeared in the present case are commented upon.

José Eymard Homem Pittella; Ana Margarida Miguel Ferreira Nogueira

Laboratório de Neuropatologia, Departamento de Anatomia Patológica e Medicina Legal, Faculdade de Medicina da Universidade Federal de Minas Gerais (UFMG)

RESUMO

É apresentado um caso autopsiado de agenesia do cerebelo associada a microcefalia, agiria e deformidades das extremidades e pavilhões auriculares, associação esta até então não relatada na literatura. Este é o sétimo caso de agenesia cerebelar registrado na literatura. Compara-se este caso com os outros previamente publicados e comentam-se os possíveis fatores etiológicos envolvidos bem como a época do aparecimento das malformações encefálicas presentes.

SUMMARY

A post-mortem examined case of cerebellar agenesis associated with microcephaly, agyria and deformities of the extremities and of the external ear in a newborn is presented. Such an association has not yet been reported in the literature. This is the seventh case of cerebellar agenesis ever registered in the literature. This case is compared with other previously published cases and the possible etiological factors involved as well as the period during which the cerebral malformations appeared in the present case are commented upon.

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Departamento de Anatomia Patológica e Medicina Legal, Faculdade de Medicina da UFMG - Av. Alfredo Balena 190 - 30130 Belo Horizonte MG - Brasil

1. van Allen M, Clarren SK - A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. J Pediatr 102: 559, 1983.
2. Anton G, Zingerle H - Genaue Beschreibung eines Falles von beiderseitigem Kleinhirnmangel. Arch f Psychiatr 54: 8, 1914.
3. Baker RC, Graves GO - Cerebellar agenesis. Arch Neurol Psychiat 25: 548, 1931.
4. Bordarier C, Robain O, Rethoré M-O Dulac O, Dhellemes C - Inverted neurons inagyria: a Golgi study of a case with abnormal chromosome 17. Hum Genet 73: 374, 1986.
5. Borrell H - Ein in den Hemisphären und dem Wurm hochgradig defektes Kleinhirn.Arch Psychiat Nervenkr 15: 268, 1884.
6. Brun R - Zur Kenntnis der Bildungsfehler des Kleinhirns. Schweiz Arch Neurol Psychiatr 1: 61; 2: 48, 1917.
7. Büsing CW - Agyrie und Hydrocephalus internus eines Neugeborenen als Hemmungsmissbildung. Zbl Allg Path 99: 120, 1959.
8. Cohen I - Agenesis of the cerebellum (verified by operation). J Mt Sinai Hosp 8: 441,1942.
9. Combette M - Absence complète du cervelet, des pédoncules postérieurs et de la protubérance cérébrale chez une jeune fille morte dans sa onzième année. Bull Soc Anat Paris 5: 148, 1831.
10. Dietrich A (1914), in Brun R (1917).
11. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH - Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr 102: 552, 1983.
12. Dobyns WB, Gilbert EF, Opitz JM - Letter to the editor: further comments on the lissencephaly syndromes. Am J Med Genet 22: 197, 1985.
13. Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL - Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet 22: 157, 1985.
14. Essick CR - The development of the nuclei pontis and the nucleus arcuatus in man.Am J Anat 13: 25, 1912.
15. Fara FJ, Foss HG, Philipp EA - Transabdominal encephalocentesis in a case of congenital hydrocephalus. Am J Obst Gynec 67: 158, 1954.
16. Ferrier D - The Functions of the Brain. Smith & Elder, London, 1886.
17. Flechsig PE - Plan des menschlichen Gehirns. Veit, Leipzig, 1883.
18. Freeman W - Microcephaly and diffuse gliosis: a clinico-pathological study of four cases. Brain 50 :188, 1927.
19. Fusari It - Caso di mancanza quasi totale del cerveletto. Mem Accad Sc Bologna 2: 643,1891.
20. Greenfield JG, Wolfsohn JM - Microcefalia vera: a study of two brains ilustrating the agyric form and the complex microgyric form. Arch Neurol Psychiat 33: 1296, 1935.
21. Gross H, Kaltenbäck E - über eine Mikrencephalia vera mit Fehlbildung und ubiquitärer Laminärschädigung der Grosshirnrinde. Wr Z f Nervenheilk 17: 324, 1960.
22. Heggie P, Grossnikiaus HE, Roessmann U, Chou SM, Cruse RP - Cerebro-ocular dysplasia-muscular dystrophy syndrome; report of two cases. Arch Ophthalmol 105: 520, 1987.
23. Holtzman M, Arél C - Cerebellar agenesis: case report. Harefuah 104: 18, 1983.
24. Koster S - Two cases of hypoplasia ponto-neocerebellaris. Acta Psychiatr Neurol 1: 47,1926.
25. Kramer W - Dysgenetic gliosis of the brain: a case of macrogyria. J Neuropath Exp Neurol 15: 471, 1956.
26. Larroche JC - Malformations of the nervous system. In Hume Adams J, Corsellis JAN, Duchen LW (eds): Greenfield's Neuropathology. Ed 4. Edward Arnold, London, 1984.
27. Leyden E - Über Hydromyelus und Syringomyelic. Virchows Arch Path Anat 68: 1, 1876.
28. Llorca FO, Fonolla AJP, Garcia FA - Morfogénesis de los tubérculos mamilares (corporamamillaria). Arch Neurobiol 40: 139, 1977.
29. Marsch W, Gropp A, Rotthauwe HW - Chromosomen-anomalien bei Missbildungssyndromen (sog. D- und E-Trisomie-Syndrom). Virchows Arch Path Anat 338: 111, 1964.
30. Matsuyama M - A seriously deformed child with defect of cerebellum and kidneys. Acta Path Jap 17:1, 1967.
31. Monakow C von - Biologisches und morphologisches über die Microcephalia vera. Schweiz Arch Neurol Psychiat 18: 3, 1926.
32. Ostertag B - Die erbbiologische Beurteilung angeborener Missund Fehlbildungen und die Frage gegenseitiger Abhängigkeit. Verh Dtsch Orthop Ges 31: 30, 1936.
33. Ostertag B - Grundzüge der Entwicklung und Fehlentwicklung: die formbestimmenden Faktoren. In Lubarsch O, Henke F, Rössle R (eds): Handbuch der speziellen pathologischen Anatomie und Histologie. Springer, Berlin, 1956, Band 13, Teil 4, pg 283-362.
34. Ostertag B - Die Einzelformen der Verbildungen (einschliesslich Syringomyelic). In Lubarsch O, Henke F, Rössle R (eds): Handbuch der speziellen pathologischen Anatomie und Histologie. Springer, Berlin, 1956, Band 13, Teil 4, pg 522-526.
35. Pagon RA, Clarren SK, Milam DFJr, Hendrickson AE - Autosomal recessive eye and brain anomalies: Warburg syndrome. J Pediatr 102: 542, 1983.
36. Pintos CM, Celle RA, Frugoni EA - Encefalopatía congénita por agenesia del cerebelo en un prematuro. Arch Ped Uruguay 14: 728, 1943.
37. Priestley DP - A case of complete absence of the cerebellum. Lancet 2: 1302, 1920.
38. Riccardi VM, Marcus ES - Congenital hydrocephalus and cerebellar agenesis. Clin Gen 13: 443, 1978.
39. Robain O, Lyon G - Les micrencéphalies familiales par malformation cérebrale: étude anatomoclinique. Acta Neuropath 20: 96, 1972.
40. Ross JJ, Frias JL - Microcephaly. In Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology. North-Holland, Amsterdam, 1977, Vol 30, Part 1, pg 507-524.
41. Rubinstein HS, Freeman W - Cerebellar agenesis. J Nerv Ment Pis 92: 489, 1940.
42. Rudel J, Warzok R, Schreiber D, Eulitz R - Zur Agyrie des Grosshirns: eine klinisch-pathologische Studie. Zbl Allg Pathol. Pathol Anat 126: 81, 1982.
43. Spiller WG - Four cases of cerebellar disease (one autopsy) with reference to cerebellar hereditary ataxia. Brain 19: 588, 1896.
44. Sternberg C - Ueber vollständigen Defekt des Kleinhirnes. Verh Dtsch Path Gesellsch 15: 353, 1912.
45. Stewart RM - Cerebellar agenesis. J Mental Sci 102: 67, 1956.
46. Sumi SM Brain malformations in the trisomy 18 syndrome. Brain 93: 821, 1970.
47. Tennstedt A - Kleinhirnaplasie beim Erwachsenen. Zbl Allg Path Path Anat 107: 301, 1965.
48. Terplan KL, Sandberg AA, Aceto TJr - Structural anomalies in the cerebellum in association with trisomy. J Am Med Assoc 197: 557, 1966.
49. Thurel R, Gruner JE - La microcephalic de type Monakow. Rev Neurol 102: 98, 1960.
50. Verdelli A (1874) in Stewart RM (1956).
51. Vogt H, Astwazaturow M - Ueber angeborene Kleinhirnerkrankungen mit Beiträgen zur Entwicklungsgeschichte des Kleinhirns. Arch Psychiat Nervenkr 49: 75, 1912.
52. Vuia O - Congenital spongy degeneration of the brain (van Bogaert-Bertrand) associated with micrencephaly and ponto-cerebellar atrophy (contributions to the pathology of glial dystrophy of intrauterin origin). Neuropädiatrie 8: 73, 1977.
53. Warkany J, Passarge E, Smith LB - Congenital malformations in autosomal trysomy syndromes. Am J Dis Child 112: 502, 1966.
54. Warrington WB, Monsarrat K - A case of arrested development of the cerebellum and its peduncles with spina bifida and other developmental peculiarities in the cord. Brain 25: 444, 1902.
55. Whitley CB, Thompson TR, Mastri AR, Gorlin RJ - Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance. J Pediatr 102: 547, 1983.

Agenesia do cerebelo associada a microcefalia e agiria: relato de um caso autopsiado em recém-nascido e revisão da literatura

Cerebellar agenesis associated with microcephaly and agyria: report of a case in a newborn and review of the literature

Datas de Publicação

Publicação nesta coleção
21 Jun 2011
Data do Fascículo
Dez 1988

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

[1] 1. van Allen M, Clarren SK - A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. J Pediatr 102: 559, 1983.

[2] 2. Anton G, Zingerle H - Genaue Beschreibung eines Falles von beiderseitigem Kleinhirnmangel. Arch f Psychiatr 54: 8, 1914.

[3] 3. Baker RC, Graves GO - Cerebellar agenesis. Arch Neurol Psychiat 25: 548, 1931.

[4] 4. Bordarier C, Robain O, Rethoré M-O Dulac O, Dhellemes C - Inverted neurons inagyria: a Golgi study of a case with abnormal chromosome 17. Hum Genet 73: 374, 1986.

[5] 5. Borrell H - Ein in den Hemisphären und dem Wurm hochgradig defektes Kleinhirn.Arch Psychiat Nervenkr 15: 268, 1884.

[6] 6. Brun R - Zur Kenntnis der Bildungsfehler des Kleinhirns. Schweiz Arch Neurol Psychiatr 1: 61; 2: 48, 1917.

[7] 7. Büsing CW - Agyrie und Hydrocephalus internus eines Neugeborenen als Hemmungsmissbildung. Zbl Allg Path 99: 120, 1959.

[8] 8. Cohen I - Agenesis of the cerebellum (verified by operation). J Mt Sinai Hosp 8: 441,1942.

[9] 9. Combette M - Absence complète du cervelet, des pédoncules postérieurs et de la protubérance cérébrale chez une jeune fille morte dans sa onzième année. Bull Soc Anat Paris 5: 148, 1831.

[10] 10. Dietrich A (1914), in Brun R (1917).

[11] 11. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH - Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr 102: 552, 1983.

[12] 12. Dobyns WB, Gilbert EF, Opitz JM - Letter to the editor: further comments on the lissencephaly syndromes. Am J Med Genet 22: 197, 1985.

[13] 13. Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL - Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet 22: 157, 1985.

[14] 14. Essick CR - The development of the nuclei pontis and the nucleus arcuatus in man.Am J Anat 13: 25, 1912.

[15] 15. Fara FJ, Foss HG, Philipp EA - Transabdominal encephalocentesis in a case of congenital hydrocephalus. Am J Obst Gynec 67: 158, 1954.

[16] 16. Ferrier D - The Functions of the Brain. Smith & Elder, London, 1886.

[17] 17. Flechsig PE - Plan des menschlichen Gehirns. Veit, Leipzig, 1883.

[18] 18. Freeman W - Microcephaly and diffuse gliosis: a clinico-pathological study of four cases. Brain 50 :188, 1927.

[19] 19. Fusari It - Caso di mancanza quasi totale del cerveletto. Mem Accad Sc Bologna 2: 643,1891.

[20] 20. Greenfield JG, Wolfsohn JM - Microcefalia vera: a study of two brains ilustrating the agyric form and the complex microgyric form. Arch Neurol Psychiat 33: 1296, 1935.

[21] 21. Gross H, Kaltenbäck E - über eine Mikrencephalia vera mit Fehlbildung und ubiquitärer Laminärschädigung der Grosshirnrinde. Wr Z f Nervenheilk 17: 324, 1960.

[22] 22. Heggie P, Grossnikiaus HE, Roessmann U, Chou SM, Cruse RP - Cerebro-ocular dysplasia-muscular dystrophy syndrome; report of two cases. Arch Ophthalmol 105: 520, 1987.

[23] 23. Holtzman M, Arél C - Cerebellar agenesis: case report. Harefuah 104: 18, 1983.

[24] 24. Koster S - Two cases of hypoplasia ponto-neocerebellaris. Acta Psychiatr Neurol 1: 47,1926.

[25] 25. Kramer W - Dysgenetic gliosis of the brain: a case of macrogyria. J Neuropath Exp Neurol 15: 471, 1956.

[26] 26. Larroche JC - Malformations of the nervous system. In Hume Adams J, Corsellis JAN, Duchen LW (eds): Greenfield's Neuropathology. Ed 4. Edward Arnold, London, 1984.

[27] 27. Leyden E - Über Hydromyelus und Syringomyelic. Virchows Arch Path Anat 68: 1, 1876.

[28] 28. Llorca FO, Fonolla AJP, Garcia FA - Morfogénesis de los tubérculos mamilares (corporamamillaria). Arch Neurobiol 40: 139, 1977.

[29] 29. Marsch W, Gropp A, Rotthauwe HW - Chromosomen-anomalien bei Missbildungssyndromen (sog. D- und E-Trisomie-Syndrom). Virchows Arch Path Anat 338: 111, 1964.

[30] 30. Matsuyama M - A seriously deformed child with defect of cerebellum and kidneys. Acta Path Jap 17:1, 1967.

[31] 31. Monakow C von - Biologisches und morphologisches über die Microcephalia vera. Schweiz Arch Neurol Psychiat 18: 3, 1926.

[32] 32. Ostertag B - Die erbbiologische Beurteilung angeborener Missund Fehlbildungen und die Frage gegenseitiger Abhängigkeit. Verh Dtsch Orthop Ges 31: 30, 1936.

[33] 33. Ostertag B - Grundzüge der Entwicklung und Fehlentwicklung: die formbestimmenden Faktoren. In Lubarsch O, Henke F, Rössle R (eds): Handbuch der speziellen pathologischen Anatomie und Histologie. Springer, Berlin, 1956, Band 13, Teil 4, pg 283-362.

[34] 34. Ostertag B - Die Einzelformen der Verbildungen (einschliesslich Syringomyelic). In Lubarsch O, Henke F, Rössle R (eds): Handbuch der speziellen pathologischen Anatomie und Histologie. Springer, Berlin, 1956, Band 13, Teil 4, pg 522-526.

[35] 35. Pagon RA, Clarren SK, Milam DFJr, Hendrickson AE - Autosomal recessive eye and brain anomalies: Warburg syndrome. J Pediatr 102: 542, 1983.

[36] 36. Pintos CM, Celle RA, Frugoni EA - Encefalopatía congénita por agenesia del cerebelo en un prematuro. Arch Ped Uruguay 14: 728, 1943.

[37] 37. Priestley DP - A case of complete absence of the cerebellum. Lancet 2: 1302, 1920.

[38] 38. Riccardi VM, Marcus ES - Congenital hydrocephalus and cerebellar agenesis. Clin Gen 13: 443, 1978.

[39] 39. Robain O, Lyon G - Les micrencéphalies familiales par malformation cérebrale: étude anatomoclinique. Acta Neuropath 20: 96, 1972.

[40] 40. Ross JJ, Frias JL - Microcephaly. In Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology. North-Holland, Amsterdam, 1977, Vol 30, Part 1, pg 507-524.

[41] 41. Rubinstein HS, Freeman W - Cerebellar agenesis. J Nerv Ment Pis 92: 489, 1940.

[42] 42. Rudel J, Warzok R, Schreiber D, Eulitz R - Zur Agyrie des Grosshirns: eine klinisch-pathologische Studie. Zbl Allg Pathol. Pathol Anat 126: 81, 1982.

[43] 43. Spiller WG - Four cases of cerebellar disease (one autopsy) with reference to cerebellar hereditary ataxia. Brain 19: 588, 1896.

[44] 44. Sternberg C - Ueber vollständigen Defekt des Kleinhirnes. Verh Dtsch Path Gesellsch 15: 353, 1912.

[45] 45. Stewart RM - Cerebellar agenesis. J Mental Sci 102: 67, 1956.

[46] 46. Sumi SM Brain malformations in the trisomy 18 syndrome. Brain 93: 821, 1970.

[47] 47. Tennstedt A - Kleinhirnaplasie beim Erwachsenen. Zbl Allg Path Path Anat 107: 301, 1965.

[48] 48. Terplan KL, Sandberg AA, Aceto TJr - Structural anomalies in the cerebellum in association with trisomy. J Am Med Assoc 197: 557, 1966.

[49] 49. Thurel R, Gruner JE - La microcephalic de type Monakow. Rev Neurol 102: 98, 1960.

[50] 50. Verdelli A (1874) in Stewart RM (1956).

[51] 51. Vogt H, Astwazaturow M - Ueber angeborene Kleinhirnerkrankungen mit Beiträgen zur Entwicklungsgeschichte des Kleinhirns. Arch Psychiat Nervenkr 49: 75, 1912.

[52] 52. Vuia O - Congenital spongy degeneration of the brain (van Bogaert-Bertrand) associated with micrencephaly and ponto-cerebellar atrophy (contributions to the pathology of glial dystrophy of intrauterin origin). Neuropädiatrie 8: 73, 1977.

[53] 53. Warkany J, Passarge E, Smith LB - Congenital malformations in autosomal trysomy syndromes. Am J Dis Child 112: 502, 1966.

[54] 54. Warrington WB, Monsarrat K - A case of arrested development of the cerebellum and its peduncles with spina bifida and other developmental peculiarities in the cord. Brain 25: 444, 1902.

[55] 55. Whitley CB, Thompson TR, Mastri AR, Gorlin RJ - Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance. J Pediatr 102: 547, 1983.