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o Issue N# 4 - 2000 o

PAEDIATRICS

Farber's disease: a cause of hoarseness of voice in infants


Authors : L. El Sharkawy, H. Abdallah, S. Marzouk (Le Caire)

Ref. : Rev Laryngol Otol Rhinol. 2000;121,4:261-265.

Article published in english
Downloadable PDF document english



Summary : Farber's disease (disseminated lipogranulomatosis) is an autosomal recessive disease characterized by deposition of glycolipid ceramide in different tissues due to deficiency of lysosomal acid ceramidase. The disease starts to manifest at the age of four months by a hoarse cry or swollen tender joints followed by subcutaneous nodules. This disease is fatal in the first years of life and no treatment is known until now. This study presents four cases of Farber's disease who all presented by hoarseness of voice, polyarthritis and subcutaneous nodules. After clinical examination, the diagnosis was confirmed by fiberoptic flexible nasopharyngolaryngoscopy which showed the presence of vocal folds thickening in all patients and affection of the cricoarytenoid joint in one patient and biopsy from the subcutaneous nodules which showed infiltration of the deep dermis and subcutaneous tissues by fibroblasts and large foamy histiocytes.

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