Background
Pediatric Sarcoidosis is a rare multisystem granulomatous disorder and series from the Asian subcontinent are few.
Aim
We describe our experience to date with an inceptional cohort.
Anzeige
Methods
Retrospective chart review of the demographic, clinical, diagnostic and genetic characteristics were studied.
Results
Over seven years, 12 of 1214 new cases seen in the Pediatric Rheumatology Clinic (1%) (M: F = 1:1), were diagnosed as Sarcoidosis. 11/12(91.7%) had an onset ≤4 years of age, 8/12(67%) maintained a cumulative follow-up of 33.7 years ( range 1-9 years). 7/12(58.3%) had received anti-tuberculous therapy prior to referral.
Table
Cohort features | Characteristics at Onset/ 1st visit | Follow-up ( ≥ 1 year) |
|---|---|---|
Number(N) Median age (years) [IQR] | 12 Onset:1.25[0.9-1.7]Diagnosis:7.8[4.9-9.9] | 8 |
Fever; median duration | 10/12(83.3%);18 months | Resolution |
Arthritis | 7/12(58.3%) | Resolution |
Skin manifestations | 7/12(58.3%) | Resolved 6/8(75%) |
Ocular abnormalities | Onset: 6/12(50%), 1st visit: 5/6(83.3%) | 2/5(40%) |
Triad-Arthritis,Rash,Uveitis | Onset: 5/12(41.7%), 1st visit: 3/5(60%) | None |
Systemic features | Sicca(1),Adenopathy(4),GIT(4), Pulmonary(5), Organomegaly(9) | Aortoarteritis(1/8) Interstitial lung(1/8) |
Growth retardation | 12/12(100%) | 5/8(62.5%) |
Median Steroid dose(mg/kg/day) [IQR] Median Methotrexate dose(mg/m2BSA) [IQR] Others: | 0.6[0.2-0.8] 10.1[0-10.4] | 0.3[0.1-0.3] 10.9[9.7-15.3] Azathioprine(vasculitic rash)(1),Mycophenolate(uveitis)(1) |
Treatment side-effects | - | Hepatotoxicity(1/8) Osteoporosis(2/8) Cataracts(3/8) |
Diagnosis was by clinical presentation 'plus': ACE (4/12), biopsy (1/12), biopsy and ACE (3/12), biopsy and mutation (1/12), mutation (2/12). 3/9(33.3%) are positive for CARD15 mutation (Blau Syndrome). 2 have sporadic mutations at R334W while 1 with a mutation at G464W, developed cardiomyopathy and aortoarteritis and has a symptomatic parent with the identical mutation. None of the 8 patients following up are off therapy. 5/8(62.5%) achieved clinical improvement in a median duration of 6.9 months[5.6-9.6 IQR].
Conclusions
In our setting, Pediatric Sarcoidosis had a significant time lag to diagnosis, being often initially diagnosed as tuberculosis owing to similar clinical picture and histology. Morbidity is considerable, with arthritis, fever and rash responding to therapy while eye changes and organ damage are relatively refractory. All children show significant growth retardation at diagnosis and follow up inspite of control of constitutional features. Amongst the 3 Blau Syndrome patients, one had an atypical presentation and an autosomal dominant inheritance.
Anzeige
Open Access
This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution License (
https://creativecommons.org/licenses/by/2.0
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.