SEARCHCASE_REPORTpediatrics, neurology

case_report·pediatrics, neurology, immunology, rheumatology, internal medicine·PMC10351412

Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea

Journal of Rheumatic Diseases · 6 authors, 4 centres

AI SUMMARY

FIDELITY 100%

POPULATIONSingle pediatric patient with childhood-onset polyarteritis nodosa and early-onset stroke

INTERVENTIONTNF-α inhibitor (infliximab) therapy alongside immunosuppressive agents

COMPARISON

This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.

AGENT 01 · STRUCTURED SUMMARY

TRACE TO SOURCE

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TL;DR

Disease activity was controlled after addition of a TNF-α inhibitor.

Full summary

679 CHARS

This case report describes a Korean girl presenting at 34 months of age with truncal ataxia and facial palsy caused by thalamic infarction, followed by livedo reticularis with Raynaud phenomenon and abdominal pain with fever. Radiologic imaging revealed multiple infarctions in the brain and kidney, and a diagnosis of polyarteritis nodosa was made via skin biopsy and angiography. She experienced severe hemorrhagic strokes despite conventional treatments. Disease activity was controlled after empiric addition of infliximab before genetic confirmation, and she remained free of cerebral infarction for over 5 years on low-dose immunosuppression after discontinuing infliximab.

PICO

PPOPULATION

Single pediatric patient with childhood-onset polyarteritis nodosa and early-onset stroke

IINTERVENTION

TNF-α inhibitor (infliximab) therapy alongside immunosuppressive agents

OOUTCOME

Disease activity control and prevention of further cerebral infarction

STUDY TYPE

case_report

SPECIALTY

pediatrics

SUMMARISED BY

AI pipeline

FIDELITY CHECK

100% · A

ORIGINAL PAPER

PMC10351412

Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea

Journal of Rheumatic Diseases

READ THE FULL PAPER

ABSTRACT

Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by pathogenic variants of the ADA2 gene and has similar clinical features to polyarteritis nodosa (PAN). We, herein, report a case of DADA2 in Korea that was diagnosed in a patient with childhood-onset PAN. The patient had a truncal ataxia and facial palsy caused by thalamic infarction at 34 months of age. Livedo reticularis with Raynaud phenomenon and abdominal pain with fever were followed. Radiologic examination showed multiple infarctions in brain and kidney. She was diagnosed with PAN using skin biopsy and angiography. She had severe hemorrhagic strokes despite medical treatments. Her disease activity was controlled after adding a tumor necrosis factor-α inhibitor. Molecular analysis revealed compound heterozygous pathogenic variants of ADA2 gene. This is the first case of DADA2 in Korea. Genetic analysis for ADA2 gene should be considered in patients with childhood-onset PAN.

CITATION EXPORT

Sun Cho, Seongyeol Park, Jeong Seok Lee et al.. Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea. Journal of Rheumatic Diseases. (2022). https://doi.org/10.4078/jrd.21.0046

AUTHORS

6 · 4 CENTRES

Sun Cho, Seongyeol Park, Jeong Seok Lee, Young Seok Ju, Yun Jung Choi, Soyoung Lee

1Department of Pediatrics, Seoul National University Hospital, Seoul, Korea
2GENOME INSIGHT Inc., Daejeon, Korea
3Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Korea
4Hospital Medicine Center, Seoul National University Hospital, Seoul, Korea