Bourneville-Pringle disease

Alternative eponyms

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A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum of the face, cerebral cortical tubers and hamartomatous tumours of the heart and kidney.

Description

Authors disagree as to whether this is one entity, or should be separated into Bourneville's disease, Bourneville's syndrome, Pringle's disease, etc. The description below is a compilation presenting this condition (these conditions) as one entity.

A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum (overgrowth of the sebaceous glands) of the face, cerebral cortical tubers (hence the name "tuberous sclerosis") and hamartomatous tumours of the heart and kidney. It is heredofamilial and usually manifests itself early in life. Females are more often affected. Incomplete forms of the syndrome occur. Transmitted as an autosomal dominant trait with variable expressivity.

Friedrich Daniel von Recklinghausen (1833-1910) in 1862 described the tumours of the heart. The classic syndrome was described by Bourneville in 1880. In 1886 Balzer and Grandhomme described the combination of adenoma sebaceum and tuberous sclerosis.

Bibliography

  • F. D. von Recklinghausen:
    Ein Herz von einem Neugeborenen, welches mehrere Theils nach aussen, Theils nach den Höhlen prominierende Tumoren trug.
    Monatsschrift für Geburtskunde und Frauenkrankheiten, Berlin, 1862, 20: 1.
  • D. M. Bourneville:
    Sclérose tubéreuse des circonvolution cérébrales: Idiotie et épilepsie hemiplégique.
    Archives de neurologie, Paris, 1880, 1:81-9l.
  • D. M. Bourneville, E Brissaud:
    Encéphalite ou sclérose tubéreuse des circonvolutions cérébrales.
    Archives de neurologie, Paris, 1881, 1: 390-412.
  • D. M. Bourneville, E Brissaud:
    Idiotie et épilepsie symptomatique de sclérose tubéreuse ou hypertrophique.
    Archives de neurologie, Paris, 1900, 10:29-39.
  • Hartdegen, in:
    Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1880, 11: 117-131
    "Glioma gangliocellulare cerebri congenitum"
  • J. J. Pringle:
    A case of congenital adenoma sebaceum.
    British Journal of Dermatology, Oxford, 1890, 2: 1-14.
  • J. J. Pringle:
    Ueber einen Fall von kongenitalem Adenoma sebaceum.
    Monatshefte für praktische Dermatologie, Leipzig, 1890, 10: 197-211.
  • Félix Balzer (1849-1929) and Pierre-Eugène Mènètrier (1859-1935):
    Étude sur un cas d'adénomes sébacés de la face et du cuir chevelu.
    Archives de Physiologie normale et pathologique, Paris, (Series III), 1885, 6: 564-576.
  • F. Balzer, Grandhomme:
    Nouveau cas d’adénomes sébacés de la face.
    Archives de Physiologie normale et pathologique, Paris, 1886, 8: 93-96.
  • Heinrich Vogt:
    Zur Diagnostik der tuberösen Sklerose.
    Zeitschrift für die Erforschung und Behandlung des jugendlichen Schwachsinns auf wissenschaftlicher Grundlage, Jena, 1908, 2: 1-16.
  • P. I. Yakolev, R. H. Guthrie:
    Congenital ectodermoses (neurocutaneous syndromes) in epileptic patients. Bourneville tuberous sclerosis (epiploia).<7i>
    Archives of Neurology and Psychiatry, Chicago, 1931, 26: 1145-1194.

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