Al-Naimi Amal, Toma Haneen, Hamad Sara G, Ben Omran Tawfeg
Pediatric Pulmonology Department, Sidra Medicine, Doha, Qatar.
Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
Case Rep Genet. 2022 Feb 10;2022:2555235. doi: 10.1155/2022/2555235. eCollection 2022.
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.
法伯病（FD）是一种极为罕见的常染色体隐性疾病，由溶酶体酸性神经酰胺酶缺乏引起。其特征为三联征，即进行性多关节受累、皮下结节和声音嘶哑。在本报告中，我们描述了一名23个月大被诊断为法伯病的男孩。最初，他因出现关节肿胀被误诊为幼年特发性关节炎（JIA）。然而，伴随的声音嘶哑、皮下结节以及对治疗反应不佳均对JIA的诊断提出质疑，并促使怀疑法伯病为另一种诊断。后来通过在ASAH1基因中存在纯合致病性变异（p.Gly213Glu；外显子8中c.638G＞A）在基因层面确诊。本病例说明了一名法伯病患儿的诊断过程，同时强调在存在皮下结节和/或声音嘶哑的早发性关节炎鉴别诊断中应考虑法伯病。
