- A dictionary of medical eponyms

Béguez César's syndrome

Alternative eponyms

  • Beguez César-Steinbrinck-Chédiak-Higashi syndrome
  • Chédiak's anomaly
  • Chédiak's disease
  • Chédiak-Steinbrinck syndrome
  • Chédiak-Steinbrinck-Higashi syndrome
  • Steinbrinck's anomaly
  • Chédiak-Higashi syndrome
  • Steinbrinck Granulationsanomalie (German)

Related people

A multisystem fatal familial metabolic disorder with abnormal granulation of leukocytes and susceptibility to infections.

Description

A multisystem fatal familial metabolic disorder with abnormal granulation of leukocytes and susceptibility to infections. Long list of anomalies and malformations, including partial albinism photophobia, decreased lacrimation, hyperhidrosis, pale optic fundi. Progressive neuropathy with muscle weakness may occur. Occurs in infants; children usually die by the age of 5 to 10. Very rare disease. Inheritance is probably autosomal recessive, and so far it has only been observed almost only in cases of consanguinity of the parents. Etiology unknown.

Bibliography

  • W. Steinbrinck:
    Ueber das Vorkommen der Gicht im jugendlichen Alter.
    Medical doctoral thesis. Berlin, 1920.
  • A. Béguez César:
    Neutropenia crònica maligna familial con granulaciones atipicas de los leucocitos.
    Revista cubana de pediatría, 1943, 15: 900-910.
  • M. Chédiak:
    Nouvelle anomalie leucocytaire de caractère constitutionel et familial.
    Revue d'hématologie, Paris, 1952, 7:362-367.
  • O. Higashi:
    Congenital gigantism of peroxidase granules. The first case ever reported of qualitative abnormality of proxidase.
    Tohoku Journal of Experimental Medicine, Sendai, 1953-1954, 59: 315-332.
  • W. Steinbrinck:
    Über eine neue Granulatonsanomalie der Leukocyten.
    Deutsches Archiv für klinische Medizin, Leipzig, 1948, 193: 577-581.

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