Title : Familial cold autoinflammatory syndrome 2 mimicking marshall syndrome
Abstract:
Introduction: NLRP12 gene plays an essential role in the development and action of regulatory T- cells; therefore, mutations in this gene can show signs and symptoms of autoinflammatory syndromes. Familial Cold Autoinflammatory Syndrome 2 (FCAS2) is one of the NLRP12-associated autoinflammatory diseases that can present with periodic fever, musculoskeletal pain, abdominal pain, sensorineural hearing loss, and chest pain, mostly in exposure to cold weather.
Case presentation: The case is a three-year-old boy who had been hospitalized several times due to febrile episodes and adenitis, pharyngitis, and aphthous ulcers. He had had persistent elevated C-Reactive Protein in his admissions. With the diagnosis of Periodic Fever, Aphthous stomatitis, Pharyngitis, Adenitis (PFAPA, Marshall Syndrome), the patient received Prednisolone, Cetirizine, Montelukast, and Colchicine. This regimen shortened the febrile episodes, but the complaint persisted. Consequently, Whole Exome Sequencing (WES) was done for the patient, which revealed a heterozygous c.2927+2T>C mutation in his NLRP12 gene with a diagnosis of FCAS2.
Conclusion: NLRP12-associated autoinflammatory diseases such as FCAS2 can present as PFAPA, and treatment targeted at PFAPA can ameliorate the condition.
Audience takeaway:
- A new differential diagnosis for Marshall syndrome
- The new presentations of Familial Cold Autoinflammatory Syndrome 2
