Conde, M

Cordeiro, AI

Farela Neves, J

Furtado, F

Pediatric Rheumatology

PubMed

Repositório da Unidade Local de Saúde São José

JIA-Like in a Boy with Ataxia-Telangiectasia

Filipa Furtado

Ana Cordeiro

João Neves

Marta Conde

Springer - Publisher Connector

POSTER PRESENTATION Open Access
JIA-like in a boy with Ataxia-telangiectasia
Filipa Furtado1, Ana Isabel Cordeiro2, João Neves2, Marta Conde1*
From 21st European Pediatric Rheumatology (PReS) Congress
Belgrade, Serbia. 17-21 September 2014
Introduction
Mechanisms of autoimmunity in primary immunodefi-
ciencies (PID) are, in many situations, unclear. Despite
being linked with many PIDs (namely humoral), juvenile
idiopathic arthritis (JIA) has rarely been associated with
DNA-repair disorders, such as Ataxia-telangiectasia (A-T).
Objectives
We report a case of JIA-like in a male patient with A-T.
Methods
A 3 year-old boy with A-T presented with pain and
swelling of fourth metatarsophalangeal (MTP) joint of left
foot. Six months later, this symptom persists and arthritis
of the left knee was noted, so he was referred to rheuma-
tology consult.
Results
At first evaluation he had arthritis of both knees, left ankle
and 4th MTF of the left foot and tenosynovitis of second
finger of the right hand. His immune evaluation revealed
an important CD4 naif lymphopenia, abnormal prolifera-
tive responses to mitogens, skewed Vbeta repertoire and
expanded gammadelta T cells, as well as conserved
humoral response. Laboratory investigations showed
erythrocyte sedimentation rate 25 mm/hr, C- reactive
protein 14.5 mg/l, antinuclear antibodies positive (1/80),
anti-cyclic citrullinated protein antibodies and rheumatoid
factor were negative. A JIA-like disease was assumed, he
started ibuprofen (30 mg/kg/day), and a chemical
synovectomy with triamcinolone hexacetonide (TH) was
performed (knees and ankle).
Ten months after diagnosis, knees and left ankle remain
without active synovitis, but active 4th MTP of left foot
and tenosynovitis of 2nd finger of right hand persists
despite moderate improvement. Taking in account the
underlying immune defect methotrexate was not an
option and hydroxichloroquine (5 mg/kg/day) was started.
Conclusion
This case seems to be the first known pediatric patient
with A-T who developed chronic, JIA-like disease. The
management of these patients is particularly difficult
because they are extremely susceptible to DNA damage
and show an unusual susceptibility to viral infections
(namely herpetic). These features are very important when
considering the best therapeutic options for JIA-like
disease.
Disclosure of interest
None declared.
Authors’ details
1Pediatric Rheumatology Unit, Hospital Dona Estefânia - CHLC, Lisbon,
Portugal. 2Primary Immunodeficiencies Unit, Hospital Dona Estefânia - CHLC,
Lisbon, Portugal.
Published: 17 September 2014
doi:10.1186/1546-0096-12-S1-P212
Cite this article as: Furtado et al.: JIA-like in a boy with Ataxia-
telangiectasia. Pediatric Rheumatology 2014 12(Suppl 1):P212.
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1Pediatric Rheumatology Unit, Hospital Dona Estefânia - CHLC, Lisbon,
Portugal
Full list of author information is available at the end of the article
Furtado et al. Pediatric Rheumatology 2014, 12(Suppl 1):P212
http://www.ped-rheum.com/content/12/S1/P212
© 2014 Furtado et al; licensee 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.


JIA-like in a boy with Ataxia-telangiectasia

Ana Isabel Cordeiro

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http://dx.doi.org/10.1186/1546-0096-12-S1-P212

JIA-Like in a Boy with Ataxia-Telangiectasia

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