A 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
A 35 month old girl had suffered from painful joint contractures of the whole body since a few months after birth, and she gradually developed numerous periarticular and subcutaneous nodules, hoarseness, swallowing difficulty with recurrent respiratory infections, nystagmus, and mental and
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