Holoprosencefalia: estudo de seis casos

Lamego, Isabel Saraiva; Barbosa-Coutinho, Lígia Maria

doi:10.1590/S0004-282X1994000400011

Resumos

Para a realização deste estudo, que tem por objetivo classificar e analisar o aspecto mascroscópico do cérebro e facies na holoprosencefalia, foram revisados seis casos examinados no Departamento de Patologia da FFFCMPA. Comparação dos dados observados neste estudo é feita com aqueles da literatura sobre o assunto.

holoprosencefalia; prosencefalia; malformações congênitas do sistema nervoso central; arrinencefalia

The aim of this study is to classify and analyse macroscopic aspects of the brain and facies in holoprosencephaly. The six cases reported were examined at the Department of Pathology of FFFCMPA. Data observed in this study are compared to those registered in the literature.

holoprosencephaly; prosencephaly; nervous system malformation; arhinencephaly

Holoprosencefalia: estudo de seis casos

Holoprosencephaly: study of six cases

Isabel Saraiva Lamego^I; Lígia Maria Barbosa-Coutinho^II

^IEstudo realizado no Departamento de Patologia da Fundação Faculdade Federal de Ciências Médicas de Porto Alegre (FFFCMPA): Doutoranda da FFFCMPA

^II^IEstudo realizado no Departamento de Patologia da Fundação Faculdade Federal de Ciências Médicas de Porto Alegre (FFFCMPA): Professora Titular de Anatomia Patológica da FFFCMPA, Neuropatologista

RESUMO

Para a realização deste estudo, que tem por objetivo classificar e analisar o aspecto mascroscópico do cérebro e facies na holoprosencefalia, foram revisados seis casos examinados no Departamento de Patologia da FFFCMPA. Comparação dos dados observados neste estudo é feita com aqueles da literatura sobre o assunto.

Palavras-chave: holoprosencefalia, prosencefalia, malformações congênitas do sistema nervoso central, arrinencefalia.

SUMMARY

The aim of this study is to classify and analyse macroscopic aspects of the brain and facies in holoprosencephaly. The six cases reported were examined at the Department of Pathology of FFFCMPA. Data observed in this study are compared to those registered in the literature.

Key words: holoprosencephaly, prosencephaly, nervous system malformation, arhinencephaly.

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Aceite: 29-abril-1994.

Dra. Lígia M. Barbosa Coutinho - Rua Carvalho Monteiro 414 - 90470-100 Porto Alegre RS - Brasil

1. Barkovich AJ, Quint DJ. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR 1993, 14: 431-440.
2. Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN. Holoprosencephaly in infants of diabetic mothers. J Pediatrics 1983, 102: 565-568.
3. Benke PJ, Cohen MM Jr. Recurrence of holoprosencephaly in families with a positive history. Clin Genet 1983, 24:324-328.
4. Chervenak FA, Isaacson G, Mahoney MJ, Tortora M, Mesologites T, Hobbins JC. The obstetric significance of holoprosencephaly. Obst Gynecol 1984, 63: 115-121.
5. Cohen MM Jr. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 1989, 40: 211-235.
6. Cohen MM Jr, Halifax NS. An update on the holoprosencephalic disorders. J Pediatrics 1982,101: 865-869.
7. De Morsier G. Études sur les dysraphies cranio-encéphaliques: VII. Télencéphalosynapsis: hémisphères cérébraux incomplètement separes. Psychiatr Neurol, (Basel) 1961, 141: 239-279 [12]
8. De Myer W. Holoprosencephaly (cyclopia-arhinencephaly). In Vinken PJ, Bruyn GW (eds). Handbook of clinical neurology. Amsterdam: North-Holland, 1977, Vol 30, p 431-478.
9. De Myer W, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confinia Neurol 1963, 23: 1-36.
10. De Myer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 1964, 34: 256-263.
11. Gardeur D, Palmieri A. Pathologies malformatives et neonatales, Paris: Preparations Grandes Ecoles-Médicine, 1983, Vol VI, p 109-113.
12. Kobori JA, Herrick MK, Urich H. Arhinencephaly: the spectrum of associated malformations. Brain 1987, 110: 237-260.
13. Lambert JC, Ferrari M, Donzeau M, Hericort P, Boutte P, Walbaum R, Ayraud N. Association d'une hydrocephalic héréditaire et d'une holoprosencéphalie. Arch Fr Pediatr 1983, 40: 397-399.
14. Muller F, O'Rahilly R. Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia in relation to the development of the human forebrain. Am J Anat 1989, 185: 391-414.
15. Nelson LH, King M. Early diagnosis of holoprosencephaly. Ultrasound Med 1992, 11: 57-59.
16. Okasaki H. Perinatal nervous system damage and malformations. In Fundamentals of neuropathology, New York: Igaku-Shoin 1983, p 261-262.
17. Probst FP. The holoprosencephalies. Berlin: Springer-Verlag 1979, p 33-34.
18. Slager U. Developmental malformations, Baltimore: Williams & Wilkins, 1970, p 226.

Datas de Publicação

Publicação nesta coleção
19 Jan 2011
Data do Fascículo
Dez 1994

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[1] 1. Barkovich AJ, Quint DJ. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR 1993, 14: 431-440.

[2] 2. Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN. Holoprosencephaly in infants of diabetic mothers. J Pediatrics 1983, 102: 565-568.

[3] 3. Benke PJ, Cohen MM Jr. Recurrence of holoprosencephaly in families with a positive history. Clin Genet 1983, 24:324-328.

[4] 4. Chervenak FA, Isaacson G, Mahoney MJ, Tortora M, Mesologites T, Hobbins JC. The obstetric significance of holoprosencephaly. Obst Gynecol 1984, 63: 115-121.

[5] 5. Cohen MM Jr. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 1989, 40: 211-235.

[6] 6. Cohen MM Jr, Halifax NS. An update on the holoprosencephalic disorders. J Pediatrics 1982,101: 865-869.

[7] 7. De Morsier G. Études sur les dysraphies cranio-encéphaliques: VII. Télencéphalosynapsis: hémisphères cérébraux incomplètement separes. Psychiatr Neurol, (Basel) 1961, 141: 239-279 [12]

[8] 8. De Myer W. Holoprosencephaly (cyclopia-arhinencephaly). In Vinken PJ, Bruyn GW (eds). Handbook of clinical neurology. Amsterdam: North-Holland, 1977, Vol 30, p 431-478.

[9] 9. De Myer W, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confinia Neurol 1963, 23: 1-36.

[10] 10. De Myer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 1964, 34: 256-263.

[11] 11. Gardeur D, Palmieri A. Pathologies malformatives et neonatales, Paris: Preparations Grandes Ecoles-Médicine, 1983, Vol VI, p 109-113.

[12] 12. Kobori JA, Herrick MK, Urich H. Arhinencephaly: the spectrum of associated malformations. Brain 1987, 110: 237-260.

[13] 13. Lambert JC, Ferrari M, Donzeau M, Hericort P, Boutte P, Walbaum R, Ayraud N. Association d'une hydrocephalic héréditaire et d'une holoprosencéphalie. Arch Fr Pediatr 1983, 40: 397-399.

[14] 14. Muller F, O'Rahilly R. Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia in relation to the development of the human forebrain. Am J Anat 1989, 185: 391-414.

[15] 15. Nelson LH, King M. Early diagnosis of holoprosencephaly. Ultrasound Med 1992, 11: 57-59.

[16] 16. Okasaki H. Perinatal nervous system damage and malformations. In Fundamentals of neuropathology, New York: Igaku-Shoin 1983, p 261-262.

[17] 17. Probst FP. The holoprosencephalies. Berlin: Springer-Verlag 1979, p 33-34.

[18] 18. Slager U. Developmental malformations, Baltimore: Williams & Wilkins, 1970, p 226.