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Anales de Otorrinolaringología Mexicana

Anales de Otorrinolaringología Mexicana
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2008, Number 4

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Otorrinolaringología 2008; 53 (4)

Respiratory tract infection in a patient with Farber syndrome

Collado CR, Raya HDJ, Granados MC, González DLS, Collado MÁ, Schimelmitz IJ, Bross SD
Full text How to cite this article

Language: Spanish
References: 6
Page: 186-189
PDF size: 269.89 Kb.


Key words:

Farber’s disease, ceramidasa, lower airway infections.

ABSTRACT

There is a case of an 18 years patient that arrive medical profile suggestive of infection of respiratory airway associated with Farber disease present a challenge in his evolution and prediction. We present the sequences of events with the results and a review of the literature.


REFERENCES

  1. Lemes A. Errores congénitos del metabolismo. Archi Pediatr Uruguay 2003;74(1):33-36.

  2. Ehlert K, Frosch M, Fehse N, Zander A, et al. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J 2007;29:5-15.

  3. Bruyn GW, Moser HW. Neurodystrophies and neurolipidoses: convulsive disorders. 1st ed. New York: Elsevier science, 1996.

  4. Moser HW, Linke T, Fensom AH, Levade T, Sandhoff K. Acid ceramidase deficiency: Farber lipogranulomatosis. In: Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, et al. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw Hill, 2001;pp:3573-85.

  5. Jameson RA, Holt PJ, Keen JH. Farber’s disease (lysosomal acid ceramidase deficiency). Ann Rheum Dis 1987;46:559-61.

  6. Souillet G, Guibaud P, Fensom AH, Maire I, Zabot MT. In: Outcome of displacement bone marrow transplantation in Farber’s disease: a report of a case. In: Hobss JR, editor. Correction of certain genetic diseases by transplantation 1st ed. London: COGENT, 1989;pp:137-41.




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C?MO CITAR (Vancouver)

Otorrinolaringología. 2008;53