Farber disease (Ceramidosis or Lipogranulomatosis):

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Biochemistry: Marked increase in the concentration of free ceramide.

Clinical: Infantile onset with painful swelling of joints and subcutaneous nodules over the affected joints. Patients have a hoarse cry, respiratory and feeding difficulties, and psychomotor retardation. Death usually occurs within the first two years of life.

Histology: There is storage material in Kuffer cells, red pulp of the spleen, the lung, and in lymph nodes. Neuronal storage is present and is particularly marked in the brain stem, the basal ganglia and anterior horn cells of the spinal cord.

EM: Zebra bodies are present and may be found in endothelial cells. Zebra bodies are also found with membrane-bound vacuoles in hepatocytes.

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