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Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature

Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature

Authors :
Amal Al-Naimi
Haneen Toma
Sara G. Hamad
Tawfeg Ben Omran
Source :
Case Reports in Genetics, Vol 2022 (2022)
Publication Year :
2022
Publisher :
Wiley, 2022.

Abstract

Farber disease (FD) is an extremely rare autosomal recessive disorder caused by the deficiency of lysosomal acid ceramidase. It is characterized by a triad of progressive multiple joints’ involvement, subcutaneous nodules, and hoarseness of voice. In this report, we describe a 23-month-old boy diagnosed with Farber disease. Initially, he was misdiagnosed as juvenile idiopathic arthritis (JIA) because he presented with joint swelling. However, the associated hoarseness of voice, subcutaneous nodules, and poor response to treatment all have questioned the diagnosis of JIA and prompted the suspicion of Farber disease as an alternative diagnosis. The diagnosis was later confirmed genetically by the presence of a homozygous pathogenic variant (p.Gly213Glu; c.638G > A in exon 8) in the ASAH1 gene. The present case illustrates the diagnostic journey of a child with Farber disease as well as highlights that FD should be considered in the differential diagnosis of early onset arthritis in the presence of subcutaneous nodules and/or hoarseness of voice.

Subjects

Subjects :
Genetics
QH426-470

Details

Language :
English
ISSN :
20906552
Volume :
2022
Database :
Directory of Open Access Journals
Journal :
Case Reports in Genetics
Publication Type :
Academic Journal
Accession number :
edsdoj.1ab6aecbb52142f9b4ae72bea3b2cf29
Document Type :
article
Full Text :
https://doi.org/10.1155/2022/2555235