Hostname: page-component-586b7cd67f-2plfb Total loading time: 0 Render date: 2024-11-28T04:43:02.201Z Has data issue: false hasContentIssue false
  • English
  • Français

Neurofibromatosis in Monozygotic Twins: A Case Report

Published online by Cambridge University Press:  01 August 2014

Hans Olof Åkesson ,
Rolf Axelsson  and
Birgitta Samuelsson
Hans Olof Åkesson*
Affiliation:
University of Göteborg, Sweden
Rolf Axelsson
Affiliation:
University of Göteborg, Sweden
Birgitta Samuelsson
Affiliation:
University of Göteborg, Sweden
*
Psychiatric Department III, Lillhagen Hospital, 422 03 Hisings Backa, Sweden

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A case report is given of a pair of monozygotic twin girls with neurofibromatosis caused by a new mutation. The symptomatology was dominated by a neurofibrosarcoma on the leg of one twin and by a large plexiform neurofibroma on the neck of the other twin. Otherwise, the disease showed similar, although not identical or mirror-image distribution of subcutaneous neurofibromas and café-au-lait spots. The twins had identical HLA and blood group antigens and the same chromosome aberration. These case reports indicate that nonhereditary factors may influence the manifestations of neurofibromatosis. A review of the literature on monozygotic twins with neurofibromatosis is given.

Keywords

Neurofibromatosisv. Recklinghausen diseaseMonozygotic twins
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 32 , Issue 3-4 , July 1983 , pp. 245 - 249
Copyright
Copyright © The International Society for Twin Studies 1983

References

REFERENCES

1. Arrighi, FE, Hsu, TC (1971): Localization of heterochromatin in human chromosomes. Cytogenetics 10:81–86.CrossRefGoogle ScholarPubMed
2. Asberg, M, Perris, C, Schalling, D, Sedvall, G (1978): The CPRS: Development and application of a psychiatric rating scale. Acta Psychiatr Scand Suppl 271, pp 1–100.Google Scholar
3. Borberg, A (1951): Clinical and genetic investigatins in tuberous sclerosis and Reckinghausen's neurofibromatosis: Contribution to elucidation of interraltionship and eugenics of the syndromes. Acta Psychiatr Neurol Scand Suppl 71, pp 1–239.Google Scholar
4. Borsgard, JI, Sabel, K-G, Wahlström, J (1974): A case of trisomy-G with simultaneous balanced D-D translocation. Hereditas 77:159–161.CrossRefGoogle ScholarPubMed
5. Cartwright, SC (1982): Concordant optic glioma in a pair of monozygotic twins with neurofibromatosis. Clin Pediatr (Phila) 11(4):236–238.CrossRefGoogle Scholar
6. Crowe, FW, Schull, WJ, Neel, JV (1956): “A Clinical Pathological and Genetic Study of Multiple Neurofibromatosis,” Springfield: CC Thomas.Google Scholar
7. Diekman, L, Huther, W, Pfeiffer, RA (1967): Ungewöhnliche Erscheinungs formen der Neurofibromatose (von Recklinghausensche Krankheit) im Kindes Alter. Ztschr Kinderh 1101:191–222.CrossRefGoogle Scholar
8. Dresner, E, Montgomery, DAD (1949): Primary optic atrophy in von Recklinghausen's disease. Quart J Med 18:93–104.Google ScholarPubMed
9. Harkin, JC, Reed, RJ (1969): “Tumours of the Peripheral Nervous System.” Washington, DC: AFIP, pp 29–138, series II.Google Scholar
10. Riccardi, VM, Kliner, B, Lubs, M (1979): Neurofibromatosis: Variable expression is not intrinsic to the mutant gene. Birth Defgects: Original Article Series Vol XV, No. 5B.Google Scholar
11. Vaughn, AJ, Bachman, D, Sommer, A (1981): Neurofibromatosis in monozygotic twins: A case report of spontaneous mutation. Am J Med Genet 8(2): 155:158.CrossRefGoogle ScholarPubMed