Farber's disease as a ceramidosis: clinical, radiological and biochemical aspects.


A case of Farber's disease associated with athyreosis is reported in a Belgian infant born from consanguineous parents. A detailed clinical observation made from the early onset of symptoms until death of the patient at age of 22 months, together with radiological, morphological and biochemical data confirmed the diagnosis of Farber's disease and its… (More)


  • Presentations referencing similar topics