Hostname: page-component-78c5997874-dh8gc Total loading time: 0 Render date: 2024-11-03T02:41:47.148Z Has data issue: false hasContentIssue false
  • English
  • Français

Neuropsychiatric illness and neuropathological findings in a case of Klinefelter's syndrome

Published online by Cambridge University Press:  09 July 2009

A. Jablensky ,
I. Janota  and
Michael Shepherd
A. Jablensky
Affiliation:
Institute of Psychiatry and the Bethlem Royal and Maudsley Hospital, London S.E.5
I. Janota
Affiliation:
Institute of Psychiatry and the Bethlem Royal and Maudsley Hospital, London S.E.5
Michael Shepherd
Affiliation:
Institute of Psychiatry and the Bethlem Royal and Maudsley Hospital, London S.E.5
Get access Rights & Permissions [Opens in a new window]

Summary

A case of Klinefelter's syndrome with XXY karyotype and a dementing neuropsychiatric illness associated with a diffuse degeneration of the deep cerebral white matter and adrenal cortical atrophy is presented. The possible relationships between genetic abnormalities and disordered function and structure of the brain are discussed in the light of the clinical and pathological observations.

Type
Research Article
Information
Psychological Medicine , Volume 1 , Issue 1 , November 1970 , pp. 18 - 29
Copyright
Copyright © Cambridge University Press 1970

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

REFERENCES

Anders, J. M., Jagiello, G., Polani, P. E., Gianelli, F., Hamerton, J. L., and Leiberman, D. M. (1968). Chromosome findings in chronic psychotic patients. British Journal of Psychiatry, 114, 1167–1174.CrossRefGoogle ScholarPubMed
Bleuler, M. (1954). Endokrinologische Psychiatrie. Thieme: Stuttgart.Google Scholar
Butomo, I. V., Godinova, A. M., and Ponomarenko, A. M. (1969). Features of cerebral bioelectrical activity in Klinefelter's disease. Zhurnal nevropatologilˇ i psikhiatrilˇimenlˇ S.S. Korsakova, 69, 53–58.Google Scholar
Cowie, V., Coppen, A., and Norman, P. (1960). Nuclear sex and body-build in schizophrenia. Brilish Medical Journal, 2, 431–433.CrossRefGoogle ScholarPubMed
Dumermuth, G. (1961). EEG-Untersuchungen beim jugentlichen Klinefelter-Syndrom. Helvetica Paediatrica Acta, 16, 702–710.Google Scholar
Farkas-Bargeton, E., Sarrut, S., Philippart, M., and Launay, C. (1967). Démyélinisation du système nerveux central associée à une atrophic cortico-surrénale. Revue neuologique, 117, 627 641.Google Scholar
Ferguson-Smith, M. A. (1959). The prepubertal testicular lesion in chromatin-positive Klinefelter's syndrome (primary micro-orchidism) as seen in mentally handicapped children. Lancet, 1, 219–222.CrossRefGoogle ScholarPubMed
Grand, R. J., Rosen, S. W., Di Sant'Agnese, P. A., and Kirkham, W. R. (1966). Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarlism and microcephaly. American Journal of Mediane, 41, 478–485.CrossRefGoogle ScholarPubMed
Gray, A. M. (1969). Addison's disease and diffuse cerebral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry, 32, 344–347.Google ScholarPubMed
Grumbach, M. M., Engle, E. T., Blanc, W. A., and Barr, M. L. (1956). The sex chromatin pattern in testicular disorders: relationship to pathogenesis and to true hermaphroditism. Journal of Clinical Endocrinology and Metabolism, 16, 923.Google Scholar
Hallervorden, J. (1957). Die degenerative diffuse Sklerose. In Handbuch der Speziellen pathologischen Anatomie und Histologie, edited by Henke, F. and Lubarsch, O., XIII/l Bandteil A, pp. 716–782. Springer: Berlin.Google Scholar
Hambert, G. (1964a). Psychiatric symptoms in males with chromatin-positive Klinefelter's syndrome–personality and neuropsychiatric complications. Acta psychiatrica et neurologica Scandinavica, 40, Suppl. 180, 101–104.CrossRefGoogle Scholar
Hambert, G. (1964b). Positive sex chromatin in men with epilepsy. Acta medica Scandinavica, 175, 663–665.CrossRefGoogle ScholarPubMed
Hambert, G. (1965). Prevalence of positive sex chromatin in unselected adult Swedish male population. Acta genetica et statistica medica, 15, 256–260.Google ScholarPubMed
Hambert, G. (1966). Males with Positive Sex Chromatin. Akademiförlaget: Göteborg.Google Scholar
Hambert, G., and Frey, T. S. (1964). The electroencephalogram in the Klinefelter's syndrome. Acta psychiatrica et neurologica Scandinavica, 40, 28–36.CrossRefGoogle Scholar
Hampel, E. (1937). Morbus Addisonii und sklerosierende Erkrankung des Hemisphärenmarks. Deutsche Zeitschrift für Nervenheilkunde, 42, 186–208.CrossRefGoogle Scholar
Hoefnagel, D., Van Den Noort, S., and Ingbar, S. H. (1962). Diffuse cerebral sclerosis with endocrine abnormalities in young males. Brain, 85, 553–568.CrossRefGoogle ScholarPubMed
Heofnagel, D., Brun, A., Ingbar, S. H., and Goldman, H. (1967). Addison's disease with diffuse cerebral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry, 30, 56–60.Google Scholar
Jefferson, A. (1956). A clinical correlation between encephalopathy and papilloedema in Addison's disease. Journal of Neurology, Neurosurgery, and Psychiatry, 19, 21–27.Google ScholarPubMed
Kvale, J. N., and Fishman, J. R. (1965). The psychosocial aspects of Klinefelter's syndrome. Journal of the American Medical Association, 193, 567–572.CrossRefGoogle ScholarPubMed
Lubs, H. A. Jr. (1962). Testicular size in Klinefelter's syndrome in men over fifty. Report of a case with XXY/XY mosaicism. New England Journal of Medicine, 267, 326–331.CrossRefGoogle Scholar
Maclean, N., Mitchell, J. M., Harnden, D. G., Williams, J., Jacobs, P. A., Buckton, K. A., Baikie, A. G., Court-Brown, W. M., McBride, J. A., Strong, J. A., Close, H. G., and Jones, D. C. (1962). A survey of sex-chromosome abnormalities among 4,514 mental defectives. Lancet, 1, 293–296.Google Scholar
Maclean, N., Harnden, D. G., Court-Brown, W. M., Bond, J., and Mantle, D. J. (1964). Sex-chromosome abnormalities in newborn babies. Lancet, 1, 286–290.CrossRefGoogle ScholarPubMed
Money, J., and Pollitt, E. (1964). Cytogenetic and psychosexual ambiguity. Archives of General Psychiatry, 11, 589–595.CrossRefGoogle ScholarPubMed
Moore, K. L. (1959). Sex reversai in newborn babies. Lancet, 1, 217–219.CrossRefGoogle ScholarPubMed
Nadler, C. S., Steiger, W. A., Troneellcti, M., and Durant, T. M. (1950). Dystrophia myotonica with special reference to endocrine function (Klinefelter's syndrome). Journal of Clinical Endocrinology and Metabolism, 10, 630 636.CrossRefGoogle ScholarPubMed
Nielsen, J. (1964a). Prevalence of Klinefelter's syndrome in patients with mental disorders. Lancet, 1, 1109.CrossRefGoogle Scholar
Nielsen, J. (1964b). Klinefelter's syndrome and behaviour. Lancet, 2, 587–588.CrossRefGoogle ScholarPubMed
Nielsen, J. (1965). Klinefelter's syndrome in a neurological ward. Acta neurologica Scandinavica, 41, 197–214.CrossRefGoogle Scholar
Nielsen, J. (1969). Klinefelter's syndrome and the XXY syndrome. Acta psychiatrica Scandinavica, Suppl. 209 ad. vol. 45.Google Scholar
Nielsen, J., and Fischer, M. (1965). Sex-chromatin and sex-chromosomes abnormalities in male hypogonadal mental patients. British Journal of Psychiairy, 111, 641–647.CrossRefGoogle ScholarPubMed
Nielsen, J., Sørensen, A., Theilgaard, A., Frøland, A., and Johnsen, S. G. (1969). A Psychiatric-Psychological Stutly of 50 Severely Hypogonadal Male Patients, Including 34 with Klinefelter's Syndrome, 47, XXY. Universitetsforlaget, Aarhus, and Munksgaard: Gopenhagen (Acta Jullandica, 41).Google Scholar
Pasqualini, R. Q., Vidal, G., and Bur, G. E. (1957). Psychopathology of Klinefelter's syndrome. Review of 31 cases. Lancet, 2, 164–167.CrossRefGoogle Scholar
Penrose, L. S. (1970). Personal communication.Google Scholar
Peters, G. (1958). In Handbuch der Speziellen pathologischen Anatomie und Histologie, edited by I Henke and O. Lubarsch. XIII/2 Bandteil A, Allgemeine differential-diagnostische. Erwägungen über die Entmarkungsence-phalomyelitiden, pp. 519–524, and Sklerosiercnde Entzündung des Hemisphärenmarks (Spielmeyer) (entzündliche Form der diffusen Sklerose), pp. 645–677.Google Scholar
Polani, P. E. (1967). Chromosome anomalies and the brain. Guy'f Hospital Report, 116, 365–396.Google ScholarPubMed
Poser, C. M., and van Bogaert, L. (1956). Natural history and evolution of the concept of Schilder's diffuse sclerosis. Acta psychiatrica et neurologica Scandinavica, 31, 285–331.CrossRefGoogle ScholarPubMed
Rakhalskiy, Y. E., and Sirovskiy, A. A. (1969). The types of mental disorders in Klinefelter's and Shereshevsky-Turner syndromes in adults. Zhurnal nevropatologilˇ i psikhiatrilˇimeni S.S. Korsakova, 69, 407–410.Google Scholar
Roskamp, H. (1959). Zur Psychopathologie des Klinefelter-Syndrome. Archiv für Psychiatrie und Nervenkrankheiten, vereinigt mit Zeitschrift für die gesamte Neurologie nnd Psychiatrie, 199, 330–344.CrossRefGoogle Scholar
Subray, N., and Prabhaker, S. (1962). Sex chromatin anomalies in newborn babies in India. Science, 136, 1116.CrossRefGoogle ScholarPubMed
Tedeschi, L. G., and Freeman, H. (1962). Sex chromosomes in male schizophrenies. Archives of General Psychiatry, 6, 109–111.CrossRefGoogle Scholar