AUTOINFLAMMATORY DISORDER IN A PEDIATRIC PATIENT

Abstract

Introduction Periodic fever syndromes are a subset of autoinflammatory conditions that typically manifest in childhood. They often are diagnostic dilemmas due to their heterogeneous presentations. It is important for immunologists to be familiar with the unique features of these disorders. We present the case of a patient with suspected autoinflammatory disorder whose evaluation is ongoing due to recurrence of symptoms and negative testing. Case Description A 7-year-old boy presented with recurrent, episodic fevers since 6 months of age. He had associated aphthous ulcers, enlarged tonsils, joint swelling/redness, and fatigue. A tonsillectomy and adenoidectomy performed for presumed PFAPA resulted in temporary resolution of fevers. Unfortunately, fevers, aphthous ulcers, and joint swelling returned, along with intermittent skin lesions/blisters. Course was further complicated by development of abnormal movements and motor tics. He had normal neurologic work-up including brain MRI and electroencephalography. Family history included grandmother with immunoglobulin G deficiency and mother with recurrent fevers that resolved with tonsillectomy. Primary immunodeficiency gene panel did not show pathogenic variant. He had variants of unknown significance in CASP10, RFXAP, STX11, and STXBP2. Extensive rheumatologic work-up was negative. Immune testing revealed normal lymphocyte subsets, complement, inflammatory markers, immunoglobulins, and vaccine titers. MHC class I and II expression were normal. Exome sequencing is pending. Discussion This case is challenging with its atypical presentation, negative laboratory evaluation, and persistent symptoms despite management with tonsillectomy and medications including cimetidine. The differential is wide and includes autoinflammatory disorders as well as autoimmune conditions. Periodic fever syndromes are a subset of autoinflammatory conditions that typically manifest in childhood. They often are diagnostic dilemmas due to their heterogeneous presentations. It is important for immunologists to be familiar with the unique features of these disorders. We present the case of a patient with suspected autoinflammatory disorder whose evaluation is ongoing due to recurrence of symptoms and negative testing. A 7-year-old boy presented with recurrent, episodic fevers since 6 months of age. He had associated aphthous ulcers, enlarged tonsils, joint swelling/redness, and fatigue. A tonsillectomy and adenoidectomy performed for presumed PFAPA resulted in temporary resolution of fevers. Unfortunately, fevers, aphthous ulcers, and joint swelling returned, along with intermittent skin lesions/blisters. Course was further complicated by development of abnormal movements and motor tics. He had normal neurologic work-up including brain MRI and electroencephalography. Family history included grandmother with immunoglobulin G deficiency and mother with recurrent fevers that resolved with tonsillectomy. Primary immunodeficiency gene panel did not show pathogenic variant. He had variants of unknown significance in CASP10, RFXAP, STX11, and STXBP2. Extensive rheumatologic work-up was negative. Immune testing revealed normal lymphocyte subsets, complement, inflammatory markers, immunoglobulins, and vaccine titers. MHC class I and II expression were normal. Exome sequencing is pending. This case is challenging with its atypical presentation, negative laboratory evaluation, and persistent symptoms despite management with tonsillectomy and medications including cimetidine. The differential is wide and includes autoinflammatory disorders as well as autoimmune conditions.