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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.29 no.1 São Paulo Mar. 1971

http://dx.doi.org/10.1590/S0004-282X1971000100010 

Síndrome de Pyle com fragmentação cromossômica

 

Pyle's syndrome and chromosomal breakage: a case report

 

 

Aron J. DiamentI; Anita WajntalII; P. H. SaldanhaIII

IAssistente da Clínica Neurológica da Faculdade de Medicina da Universidade de São Paulo
IIInstrutor e Professor de Disciplina de Genética Humana e Chefe do Laboratório de Genética Médica, da Faculdade de Medicina da Universidade de São Paulo
IIIProfessor de Disciplina de Genética Humana e Chefe do Laboratório de Genética Médica, da Faculdade de Medicina da Universidade de São Paulo

 

 


RESUMO

É relatado o caso de uma paciente com síndrome de Pyle (displasia crâniometafisária), com sintomatologia de involução neuropsíquica, progressiva e sinais pirâmido-extrapiramidais. O estudo do cariótipo revelou a presença, em 12% das células, de fragmentação cromossômica, embora a análise da genealogia do propósito revelasse tratar-se de provável moléstia recessiva. São discutidas as hipóteses dos mecanismos da fragmentação cromossômica em tais eventualidades (moléstias recessivas), concluindo-se por provável fragmentação secundária no caso em questão.


SUMMARY

The clinical and karyotypic analysis of a 7 years old girl with Pyle's disease are reported. Clinically the patient presented an unusual neuropsychic involution and pyramido-extrapyramidal symptomatology. The karyotypic analysis showed chromosomal breakage em 12% of the cells. However the genealogical study of the patient pointed towards a recessive disease. Various hypothesis of chromosomal breakage in recessive diseases are discussed, the possibility of secondary breakage being emphasized.


 

 

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

 

 

REFERÊNCIAS

1. ALLISON, A. C. & PATTON, G. R. — Chromosomes damage in human diploid cells following activation of lysosomal enzymes. Nature (London) 207:1170, 1965.         [ Links ]

2. AULA, P. — Chromosome breaks in leukocytes of chikenpox patients. Hereditas (Lund) 43:451, 1963.         [ Links ]

3. BECKER, P. E. — Genética Humana. Versão castelhana. Ed. Toray, Barcelona, 1966. pp. 40-41.         [ Links ]

4. BLOOM, D.; WARNER, G. S.; GERALD, P. & DIAMOND, L. — Chromosomes abnormalities in constitutional aplastic anaemia. New Engl. J. Med. 274:8, 1966.         [ Links ]

5. BOTTURA, C. & COUTINHO, V. — The chromosome anomalies of the megaloblastic anaemias. Blut 16:193, 1968.         [ Links ]

6. GERMAN, J.; ARCHIBALD, R. & BLOOM, D. — Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 148:506, 1965.         [ Links ]

7. HARNDEN, D. G. — Cytogenetic studies on patients with virus infections and subjects vaccinated against yellow fever. Amer. J. Hum Genet. 16:204, 1964.         [ Links ]

8. HECHT, F.; KOLER, R. D.; RIGAS, D. A.; DAHNKE, G. S.; CASE, N. P.; TISDALE, V. & MILLER, R. W. — Leukaemia and lymphocytes in telangiectasia. Lancet 2:1193, 1966.         [ Links ]

9. JACKSON, W. P. U.; ALBRIGHT, F.; DREWRY, G.; HANELIN, J. & RUBIN, M. I. — Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia and related conditions. I. Familial metaphyseal and cranimetaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorder of "bone remodeling". Arch. int. Med. 94:871, 1954.         [ Links ]

10. JACOBS, J. C.; BLANC, W. A.; CAPOA, A. de; HEIRD, W. C.; McGILVRAY, E.; MILLER, O. J.; MORSE, J. H.; ROSSEN, R. D.; SCHULLINGER, J. N. & WALTTZER, R. A. — Complement deficiency and chromosomal breaks in a case of a swiss type agammaglobulinaemia. Lancet 1:499, 1968.         [ Links ]

11. JERVIS, G. A. & STIMSON, C. W. — De Lange syndrome — the "Amsterdam type" of mental defect with congenital malformation. J. Pediat. 63:634, 1963.         [ Links ]

12. KLINTWORTH, G. K. — The neurologic manifestations of osteopetrosis (Albers Schonberg's disease). Neurology (Minneapolis) 13:512, 1963.         [ Links ]

13. NICHOLS, W. W.; LEVAN, A.; HALL, B. & OSTERGREN, G. — Measles associated chromosome breakage. Hereditas (Lund) 48:367, 1962.         [ Links ]

14. NICHOLS, W. W. — Relationships of viruses, chromosomes and carcinogenesis. Hereditas (Lund) 50:53, 1963.         [ Links ]

15. NICHOLS, W. W. — The role of viruses in the etiology of chromosomal abnormalities. Amer. J. Hum. Genet. 18:81, 1966.         [ Links ]

16. PYLE, E. — A case of unusual bone development. J. Bone Jt. Surg. 13:874, 1931.         [ Links ]

17. ROY, C.; MAROTEAUX, P.; KREMP, L.; COURTECUISSE, V. & LAGILLE, D. — Un nouveau syndrome osseux avec anomalies cutanées et troubles neurologiques. Arch, franc. Pédiat. 25:893, 1968.         [ Links ]

18. SCHULER, D.; KISS, A. & FABIAN, F. — Chromosomal peculiarities and "in vitro" examinations in Franconi's anaemia. Humangenetik 7:314, 1969.         [ Links ]

19. SCHWARZ, E. — Craniometaphyseal dysplasia. Amer. J. Roentgenol 84:461, 1960.         [ Links ]

20. STICH, H. F.; HSU, T. C. & RAPP, F. — Viruses and mammalian chromosomes. Localization of chromosome aberrations after infection with herpes simplex virus. Virulogy 22:439, 1964.         [ Links ]

21. WOLFF, S. & LUIPPOLD, H. E. — Metabolism and chromose breakage rejoining. Science 122:231, 1955.         [ Links ]

 

 

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