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Farber disease: an ultrastructural study
Virchows Archiv Fur Pathologische Anatomie Und Physiologie Und Fur Klinische Medizin, 1992A case of Farber disease is reported and the ultrastructural pathology of the disease is reviewed. The present case showed the typical clinical picture of Farber disease. Acid ceramidase deficiency was demonstrated biochemically. Ultrastructural features of one subcutaneous nodule and a skin biopsy are described. Three lysosomal inclusions characterize
P Guibaud, C Girod
exaly +3 more sources
Archives of Ophthalmology, 1985
A 35-month-old girl had Farber's disease (disseminated lipogranulomatosis) manifested clinically by macular cherry-red spots. The pathologic changes consisted of intracellular inclusions of varying morphologic features and density. The most frequently encountered inclusion was 1.2 micron wide and consisted of flattened stacks of osmophilic lamellae (2 ...
M A, Zarbin +3 more
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A 35-month-old girl had Farber's disease (disseminated lipogranulomatosis) manifested clinically by macular cherry-red spots. The pathologic changes consisted of intracellular inclusions of varying morphologic features and density. The most frequently encountered inclusion was 1.2 micron wide and consisted of flattened stacks of osmophilic lamellae (2 ...
M A, Zarbin +3 more
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Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis)
Science, 1972Ceramidase activity could not be demonstrated in the kidney and cerebellum from a deceased patient with Farber's disease, whereas the activities of six control acid hydrolase enzymes appeared normal. This enzyme defect presumably accounts for the accumulation that has been described in two patients and may represent the biochemical basis of this ...
M, Sugita, J T, Dulaney, H W, Moser
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2010
Farber’ s disease, also called acid ceramidase deficiency or Farber lipogranulomatosis, is an autosomal recessively inherited lysosomal disorder in which ceramide accumulates. Although present in large amounts in cells affected by the disease, this ceramide does not function as a signalling molecule since it is enclosed in lysosomes.
Margit Pavelka, Jürgen Roth
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Farber’ s disease, also called acid ceramidase deficiency or Farber lipogranulomatosis, is an autosomal recessively inherited lysosomal disorder in which ceramide accumulates. Although present in large amounts in cells affected by the disease, this ceramide does not function as a signalling molecule since it is enclosed in lysosomes.
Margit Pavelka, Jürgen Roth
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A case of combined Farber and Sandhoff disease
European Journal of Pediatrics, 1989We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots.
C, Fusch +8 more
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Disseminated Lipogranulomatosis (Farber's Disease)
Acta Paediatrica, 1958Summary The clinical picture in disseminated lipogranulomatosis, a disturbance in lipid metabolism described by Farber in 1952, is reported on the basis of the findings in a boy with the clinical signs of that disease. The symptoms appeared immediately after birth.
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The Biochemical Defect in Farber’s Disease
1976In 1967 Prensky et al. reported the accumulation of ceramide in the postmortem tissues of a patient with Faber’s disease (1), and in 1971 Samuelsson and Zetterstrom reported such an accumulation in a second case (2). In 1972 Sugita, Dulaney and Moser demonstrated the deficient activity of an acid ceramidase in the tissues of the case reported by ...
J, Dulaney +3 more
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Early morphological diagnosis of Farber disease
British Journal of Haematology, 2016no ...
Nivaggioni, Vanessa +4 more
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Nervous system involvement in Farber disease
Journal of Inherited Metabolic Disease, 2015AbstractA 30 months‐old boy with Farber disease developed nystagmus 12 months after hematopoietic stem cell transplantation (HSCT). At 40 months, gait ataxia was evident, and brain MRI showed increased size of pericerebellar sulci and 4th ventricle. EMG showed denervation in the tongue and upper limb muscles, consistent with motor neuron disease.
A. M. Cappellari +3 more
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