Summary
The clinical and neurological features of four siblings (2 ♂, 2 ♀) affected by syringomyelia are described. A fifth sister was affected by an acoustic neurinoma. Since neither parent showed signs of syringomyelia, this is considered to be a datum substantiating the dysembryogenetic theory of the syringomyelia syndrome.
Zusammenfassung
Die klinisch-neurologischen Befunde von 4 Geschwistern (2 ♂, 2 ♀) mit Syringomyelie werden beschrieben. Eine 5. Schwester hatte ein Akustikneuronom. Beide Eltern zeigten keine Zeichen von Syringomyelie. Das familiäre Vorkommen wird als Stütze für die dysembryogenetische Theorie angesehen.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Banerji, N. K., Millar, J. H. D.: Chiari malformation presenting in adult life. Its relationship to syringomyelia. Brain 97, 157–168 (1974)
Barnett, H. J. M., Foster, J. B., Hudgson, P.: Syringomyelia. Vol. 1. In: Major Problems in Neurology. London-Philadelphia-Toronto: W. B. Saunders 1973
Barré, J. A., Reyes, L.: Syringomyélie chez le frère at la sœur. Rev. Neurol. 1, 521–530 (1924)
Bentley, S. J., Campbell, M. J., Kaufmann, P.: Familial syringomyelia. J. Neurol. Neurosurg. Psychiat. 38, 346–349 (1975)
Bogaert, L. van: Syringomyelie bei zwei Schwestern. In einem der Fälle Vorhandensein einer Kleinhirncyste. Anatomisch-klinischer Beitrag. Z. ges. Neurol. Psychiat. 149, 661–677 (1934)
du Boulay, G. H., Shan, S. H., Currie, J. C., Logue, V.: The mechanism of hydromyelia in Chiari type 1 malformations. Brit. J. Radiol. 47, 579–587 (1974)
Cameron, A. H.: Arnold-Chiari and other neuro-anatomical malformations associated with spina bifida. J. Pathol. Bact. 73, 195–211 (1957)
Conway, L. W.: Hydrodynamic studies in syringomyelia. J. Neurosurg. 27, 501–514 (1967)
Ellertson, A. B., Greitz, T.: Myelocystographic and fluorescein studies to demonstrate communication between intramedullary cysts and the cerebrospinal fluid space. Acta Neurol. Scand. 45, 418 (1969)
Foster, J. B., Hudgson, P., Pearce, G. W.: The association of syringomyelia and congenital cervico-medullary anomalies: pathological evidence. Brain 92, 25–34 (1969)
Garcin, R., Oeconomos, D.: Les aspects neurologiques des malformations congenitales de la charnière cranio-rachidienne. Paris: Masson 1953
Gardner, W. J.: Hydrodynamic mechanism of syringomyelia: Its relationship to myelocele. J. Neurol. Neurosurg. Psychiat. 28, 247 (1965)
Gardner, W. J.: The distending force in the production of ‘communicating syringomyelia’. Lancet 1969 II, 541
Gardner, W. J.: The dysraphic states from syringomyelia to anencephaly. Amsterdam: Excerpta Medica 1973
Gustafson, W. A., Oldberg, E.: Neurologic significance of platybasia. Arch. Neurol. Psychiat. 44, 1184 (1940)
Hall, P. V., Muller, J., Campbell, L.: Experimental hydrosyringomyelia, ischemic myelopathy, and syringomyelia. J. Neurosurg. 43, 464–470 (1975)
Karplus, J. P. von: Syringomyelie bei Vater und Sohn. Med. Klin. 49 (1915)
Lichtenstein, B. W.: Cervical syringomyelia and syringomyelia-like states associated with Arnold-Chiari deformity and platybasia. Arch. Neurol. Psychiat. 49, 881 (1943)
List, C. F.: Neurologic syndromes accompanying developmental anomalies of occipital bone. Arch. Neurol. Psychiat. 45, 577 (1941)
Logue, V.: 14th Crookshank lecture. Syringomyelia: A radiodiagnostic and radiotherapeutic saga. Clinical Radiol. 22, 2–16 (1971)
Nalbandoff, S. S.: Syringomyélie héréditaire. Société de Neurologie de Moscou, Vratch 1399 (1899)
Preobrajenski, P. A.: Syringomyélie héréditaire. Société de Neurologie et de Psychiatrie de Moscou, Vratch 120 (1900)
Redlich, A. von: tSyringomyelie bei zwei Brüdern. Wiener Med. Wschr. 36, 1404–1406 (1916)
Retif, J.: Syringomyelie et phacomatose — Etude anatomo-clinique de deux observations de maladie de von Recklinghausen et d'une observation de maladie de von Hippel-Lindau, associées à une Syringomyélie. Acta Neurol. Psychiat. Belg. 64, 832–851 (1964)
Tridon, P.: Les dysraphies de l'axe nerveux et de ses enveloppes craniorachidiennes. Paris: G. Doin 1959
Wild, H., Behnert, J.: Konkordante Syringomyelia mit okzipito-zervikaler Dysplasie bei eineiigem Zwillingspaar. Münch. med. Wschr. 106, 1421–1428 (1964)
Author information
Authors and Affiliations
Additional information
We are grateful to Dr. M. Savoiardo for his many suggestions and for his interpretation of radiological features. We should like to thank Dr. L. De Lorenzi for allowing us to publish details about patients.
Rights and permissions
About this article
Cite this article
Caraceni, T., Giovannini, P. Familial syringomyelia. Arch. Psychiat. Nervenkr. 224, 331–340 (1977). https://doi.org/10.1007/BF00341615
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00341615