Literature DB >> 8892023

Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case.

M J Nowaczyk1, A Feigenbaum, M M Silver, J Callahan, A Levin, V Jay.   

Abstract

We report a case of Farber lipogranulomatosis in a girl with hepatosplenomegaly, macular cherry-red spot, and subcutaneous nodules who developed liver dysfunction with jaundice and ascites, and myelophthisic anaemia because of infiltration of bone marrow with storage cells. Acid ceramidase assay confirmed the diagnosis. We conclude that the bone marrow dysfunction and cherry-red spot are features of type IV Farber lipogranulomatosis that have not been previously recognized, and should be added to the clinical phenotypic description.

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Year:  1996        PMID： 8892023     DOI： 10.1007/bf01799842

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  8 in total

1.  An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement.

Authors:  M Koga; T Ishihara; F Uchino; T Fujiwaki
Journal:  Acta Pathol Jpn       Date:  1992-01

2.  Farber's disease. Light and electron microscopic study of the eye.

Authors:  M A Zarbin; W R Green; H W Moser; S J Morton
Journal:  Arch Ophthalmol       Date:  1985-01

3.  Increased levels of ceramide in the retina of a patient with Farber's disease.

Authors:  M A Zarbin; W R Green; A B Moser; C Tiffany
Journal:  Arch Ophthalmol       Date:  1988-09

4.  Phenotypic variability in siblings with Farber disease.

Authors:  S E Antonarakis; D Valle; H W Moser; A Moser; S J Qualman; W H Zinkham
Journal:  J Pediatr       Date:  1984-03       Impact factor: 4.406

5.  Ceramidase deficiency in Farber's disease (lipogranulomatosis).

Authors:  M Sugita; J T Dulaney; H W Moser
Journal:  Science       Date:  1972-12-08       Impact factor: 47.728

6.  Programmed cell death induced by ceramide.

Authors:  L M Obeid; C M Linardic; L A Karolak; Y A Hannun
Journal:  Science       Date:  1993-03-19       Impact factor: 47.728

7.  Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls.

Authors:  T Momoi; Y Ben-Yoseph; H L Nadler
Journal:  Biochem J       Date:  1982-08-01       Impact factor: 3.857

8.  Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts.

Authors:  T Kudoh; D A Wenger
Journal:  J Clin Invest       Date:  1982-07       Impact factor: 14.808
  8 in total
  2 in total

Review 1.  Lysosomal storage diseases.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-05-25

Review 2.  Acid ceramidase deficiency: Farber disease and SMA-PME.

Authors:  Fabian P S Yu; Samuel Amintas; Thierry Levade; Jeffrey A Medin
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123
  2 in total

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