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

Journal of Inherited Metabolic Disease

Volumn 19, Issue 5, 1996, Pages 655-660

  Nowaczyk, M J M ^a  

^a Division of Clinical and Metabolic Genetics   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLSPHINGOSINE DEACYLASE;

ANEMIA; ARTICLE; ASCITES; AUTOPSY; BONE MARROW; CASE REPORT; FARBER DISEASE; FEMALE; HEPATOSPLENOMEGALY; HUMAN; INFANT; LIVER DYSFUNCTION; OBSTRUCTIVE JAUNDICE; SUBCUTANEOUS NODULE;

EID: 0029843118     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799842     Document Type: Article

References (10)

1. Antonarakis SE, Valle D, Moser HW, Moser A, Qualman SJ, Zinkham WH (1984) Phenotypic variability in siblings with Farber disease. J Pediatr 104: 406-409.
2. Koga M, Ishihara T, Uchino F, Fujiwaki (1992) A case of Farber lipogranulomatosis in a Japanese boy with gastrointestinal involvement. Acta Pathol Jpn 42: 42-48.
3. Kudoh T, Wenger DA (1982) Diagnosis of metachromatic leukodystrophy, Krabbe disease and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. J Clin Invest 70: 89-97.
4. Momoi T, Ben-Yoseph Y, Nadler HL (1982) Substrate-specificities of acidic and alkaline ceramidases in fibroblasts of patients with Farber disease and controls. Biochem J 205: 419-425.
5. Moser H (1989) Ceramidase deficiency: Farber lipogranulomatosis. In: Scriver C, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2589-2600.
6. Obeid LM, Linardic CM, Karolak LA, Hannun YA (1993) Programmed cell death induced by ceramide. Science 59: 1769-1771.
7. Pierpont ME, Wenger DA, Moser HW (1983) Heterogeneity of clinical expression of Farber lipogranulomatosis. Am J Hum Genet 35: 111A.
8. Sugita M, Dulaney J, Moser HW (1972) Ceramidase deficiency in Farber disease (lipogranulomatosis). Science 178: 1100-1102.
9. Zarbin MA, Green WR, Moser HW, Morton SJ (1985) Farber's disease: light and electron microscopic study of the eye. Arch Ophthalmol 103: 73-80.
10. Zarbin MA, Green WR, Moser AB, Tiffany C (1988) Increased levels of ceramide in the retina of a patient with Farber's disease. Arch Ophthalmol 106: 1163.