Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis.
J Musculoskelet Neuronal Interact
; 19(4): 521-525, 2019 12 01.
Article
in En
| MEDLINE
| ID: mdl-31789304
ABSTRACT
Farber disease is a rare recessive autosomal disorder presented with three main 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 ailure 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Arthritis, Juvenile
/
Farber Lipogranulomatosis
Type of study:
Diagnostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
J Musculoskelet Neuronal Interact
Journal subject:
FISIOLOGIA
/
NEUROLOGIA
/
ORTOPEDIA
Year:
2019
Document type:
Article
Affiliation country:
Iran