Abstract
We present the clinical histories and physical findings of two sisters with Rett syndrome. The physical examination, combined with a review of their medical charts, revealed that both patients met the necessary criteria for the diagnosis of Rett syndrome as defined by the Rett syndrome diagnostic criteria work group. The older sister, currently 25 years of age, is typically affected, whereas the younger sister, currently 22 years of age, is affected with a seizure disorder showing an unusually early onset.
Similar content being viewed by others
References
Al-Mateen, M., Philippart, M., & Shields, W. D. (1986). Rett syndrome. A commonly overlooked progressive encephalopathy in girls.American Journal of Diseases in Childhood, 140, 761–765.
Anvret, M., Johansson, I. M., Wahlström, J., & Hagberg, B. (1985). Linkage analysis of the Rett syndrome using human chromosomal specific probes.Brain and Development, 7, 361–364.
Degennaro, L. (1988, November).The synapsin gene; From molecules to medicine. Paper presented at the 5th International Conference on Rett Syndrome, Vienna, Austria.
Donnai, D., Mountford, R. C., & Read, A. P. (1988). Norrie disease resulting from a gene deletion: Clinical features and DNA studies.Journal of Medical Genetics, 25, 73–78.
Eeg-Olofsson, O., Al-Zuhair, A. G. H., Teebi, A. S., & Al-Essa, M. M. N. (1989). Rett syndrome: Genetic clues based on mitochondrial changes in muscle.American Journal of Medical Genetics, 32, 142–144.
Gillberg, G., & Wahlström, J. (1985). Chromosomal abnormalities in infantile autism and other childhood psychoses. A population study of 66 cases.Developmental Medicine and Child Neurology, 27, 293–304.
Glaze, D. G., Frost, J. D., Zoghbi, N. Y., & Percy, A. K. (1987). Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging.Archives of Neurology, 44, 1053–1056.
Hagberg, B. (1985). Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls.Acta Paediatrica Scandinavica, 74, 405–408.
Hagberg, B., Aicardi, J., Dias, K., & Ramos, O. (1983). A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome. Report of 35 cases.Annals of Neurology, 14, 471–479.
Hagberg, B., & Witt-Engerström, I. (1986). Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence.American Journal of Medical Genetics, 24(Suppl. 1), 47–60.
Hanefeld, F., Hanefeld, U., Wilichowski, E., & Schmidtke, J. (1986). Rett syndrome — Search for genetic markers.American Journal of Meidcal Genetics, 24(Suppl. 1), 377–382.
Hecht, F. (1986). Rare polymorphic and common fragile sites: A classification.Human Genetics, 74, 207–208.
Hyman, S. L., & Batshaw, M. L. (1986). A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations.American Journal of Medical Genetics, 24(Suppl. 1) 339–344.
Kerr, A. M., & Stephenson, J. B. P. (1985). Rett's syndrome in the West of Scotland.British Medical Journal, 291, 579–582.
Killian, W. (1986). On the genetics of Rett syndrome: Analysis of family and pedigree data.American Journal of Medical Genetics, 24, 369–376.
Naidu, S., Murphy, M., Moser, H. W., & Rett, A. (1986). Rett syndrome — Natural history in 70 cases.American Journal of Medical Genetics, 24(Suppl. 1), 61–72.
Partington, M. W. (1988). Rett syndrome in monozygotic twins.American Journal of Medical Genetics, 29, 633–637.
Rett, A. (1966). Uber ein eigenartiges hirnatrophisches Syndrom bei HyperammoniÄmie im Kindesalter.Wiener Medizinische Wochenschrift, 116, 723–738.
Riccardi, V. M. (1986). The Rett syndrome: Genetics and the future.American Journal of Medical Genetics, 24(Suppl. 2), 389–402.
Tariverdian, G., Kantner, G., & Vogel, F. (1987). A monozygotic twin pair with Rett syndrome.Human Genetics, 75, 88–90.
Trauner, D. A., & Haas, R. H. (1987). Electroencephalographic abnormalities in Rett syndrome.Pediatric Neurology, 3, 331–334.
Trevathan, E., & Moser, H. W. (1988). Diagnostic criteria for Rett syndrome. The Rett syndrome diagnostic criteria work group.Annals of Neurology, 23, 425–428.
Witt-Engerström, I., & Gillberg, C. (1987). Rett syndrome in Sweden.Journal of Autism and Developmental Disorders, 17, 149–150.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Haenggeli, C.A., Moura-Serra, J. & DeLozier-Blanchet, C.D. Brief report: Two sisters with Rett syndrome. J Autism Dev Disord 20, 129–138 (1990). https://doi.org/10.1007/BF02206862
Issue Date:
DOI: https://doi.org/10.1007/BF02206862