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  • Open Access

Experience with pediatric sarcoidosis at a centre in Mumbai, India

Pediatric Rheumatology20119 (Suppl 1) :P37

https://doi.org/10.1186/1546-0096-9-S1-P37

  • Published:

Keywords

  • Sarcoidosis
  • Pediatric Rheumatology
  • Rheumatology Clinic
  • Autosomal Dominant Inheritance
  • Identical Mutation

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.

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.

Authors’ Affiliations

(1)
Pediatric Rheumatology Clinic, Jaslok Hospital, Mumbai, India
(2)
University Hospital Center of Montpellier, Montpellier Cedex 5, France

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