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  • Open Access

Clinical manifestations of four patients diagnosed with early-onset sarcoidosis or sarcoid-like syndrome

  • 1,
  • 1,
  • 1,
  • 2,
  • 2,
  • 3,
  • 4,
  • 5 and
  • 1
Pediatric Rheumatology201412 (Suppl 1) :P293

https://doi.org/10.1186/1546-0096-12-S1-P293

  • Published:

Keywords

  • Pediatric Patient
  • Clinical Manifestation
  • Lung Disease
  • Sarcoidosis
  • Juvenile Idiopathic Arthritis

Introduction

Sarcoidosis is a rare multisystemic granulomatous disease. Pulmonary involvement is common in adults, but any organ can be affected.

Objectives

To describe the main features of 4 pediatric patients diagnosed with early-onset sarcoidosis (EOS) or sarcoid-like syndrome.

Methods

Medical charts were reviewed.

Results

Four patients wer enrolled, 2 female (cases 1 and 2) and 2 male (cases 3 and 4). Their main characteristics are shown in table 1. The age at disease onset was 1.5, 10, 0.6 and 11 years respectively. The time until diagnosis ranged from 4 days to 8 years. The two cases with EOS (1 and 3) had been previously diagnosed as Juvenile Idiopathic Arthritis. Both started at a short age with the classical triad and carried a heterozygous gain-of-function NOD2 mutation. Patient 2 seemed to be a late-onset sarcoidosis but persistent hypogammaglobulinemia and poor antibody production suggested a CVID, despite she did not suffer from recurrent infections. Other granulomatous lung diseases were dismissed in this case. Finally, diagnosis in patient 4 was made according to his clinical manifestations and the slight increase in ACE level.
Table 1

Main features of the four enrolled children

 

Clinical data

Analytical data

ACE

Non-caseating granulomata

Diagnosis

1

Arthritis, rash, uveitis

Heterozygous p.R334Q

27.5

Skin

EOS

  

Mutation at NOD2 gene

   

2

Splenomegaly,

Lymphopenia

  

CVID

 

lymphadenopathy,

Thrombocytopenia

  

Sarcoid like syndrome

 

interstitial/nodular

Hypogammaglobulinemia

92

Lung

 
 

lung disease

Poor antibody responses

   

3

Arthritis, rash, uveitis

    
  

Heterozygous p.C495Y

19

Skin

Blau’s syndrome

  

Mutation at NOD2 gene

 

Synovial

 
    

Liver

 

4

Right facial paralysis, parotid enlargement, uveitis, high fever

 

74.8

 

Heerfordt’s syndrome

ACE = angiotensin converting enzyme serum level (normal 10-50 IU/l)

CVID = common variable immunodeficiency

Conclusion

Diagnosis of sarcoidosis in pediatric patients is often delayed because the disease is not suspected. Pulmonary involvement occurs less frequently in pediatric than in adults patients. This condition requires multidisciplinary management.

Disclosure of interest

None declared.

Authors’ Affiliations

(1)
Pediatric Rheumatology, University Hospital La Paz, Madrid, Spain
(2)
Pediatric Ophthalmology, University Hospital La Paz, Madrid, Spain
(3)
Immunology, Hospital Clinic, Barcelona, Spain
(4)
Immunology, General Pediatrics, University Hospital La Paz, Madrid, Spain
(5)
TBC, Spain

Copyright

© Murias et al; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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