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Farber Disease: Report of Three Cases With Joint Involvement Mimicking Juvenile Idiopathic Arthritis Pubmed



Moghadam SH1 ; Tavasoli AR2, 3 ; Modaresi M2, 4 ; Ziaee V1, 2, 5
Authors
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Authors Affiliations
  1. 1. Children’s Medical Center, Pediatrics Center of Excellence, Tehran, Iran
  2. 2. Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Myelin Disorders Clinic, Children’s Medical Center, Pediatric Center of Excellence, Tehran, Iran
  4. 4. Pediatric Pulmonnary Disease and Sleep Medicine Research Center, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Journal of Musculoskeletal Neuronal Interactions Published:2019


Abstract

Farber disease is a rare recessive autosomal disorder presented with threemain features of joint involvement, subcutaneous nodules and hoarseness. Hereby we describe three new cases of Farber disease. All three cases were first misdiagnosed as juvenile idiopathic arthritis (JIA) due to the presentation of joint swelling. Addition of hoarseness and subcutaneous nodules to the initial joint swelling questioned the diagnosis of JIA and further evaluations led to the diagnosis of Farber disease. The first case was a 4-year old girl in whom a novel genetic mutation in ASAH1 gene was found. The second patient was a 4-year old girl presented with joint swelling at 7 month of age. The third patient was a 9-month boy complicated with severe respiratory distress. All patients were treated with symptomatic and supportive care. Two cases died due to respiratory failure and infection, but one patient follow up for 2 years after diagnosis. Farber disease should be considered as differential diagnosis in children with early onset of poly articular involvement with subcutaneous nodules and/or hoarseness. © 2019, International Society of Musculoskeletal and Neuronal Interactions. All rights reserved.