Síndrome de Blau como causa de fiebre de origen desconocido en el adulto: un reporte de caso

Abstract

Introduction

We present the first case reported in Colombia of Blau syndrome manifested in adults associated with a de novo mutation in the NOD2 gene in the context of a case of fever of unknown origin.

Case summary

44-year-old female patient presenting with a condition of approximately 4 years of evolution consisting of cyclical episodes of quantified fever lasting approximately 20 days, with remission intervals of 6 to 8 months, accompanied by generalized abdominal pain, polymyalgia, polyarthralgia, and general discomfort. Her medical history included treated liver tuberculosis (TB), anterior uveitis, appearance of erythema nodosum in the lower limbs with spontaneous remission, and an episode of peripheral facial paralysis. During the aetiological studies, hepatic granulomas were documented, which were taken to biopsy where multiple non-caseating granulomas were found. Angiotensin-converting enzyme levels were measured, which were found within normal limits, and molecular and microbiological limits for TB in the biopsy were negative. Subsequently, an autoinflammatory syndrome was considered a suspected diagnostic diagnosis given the persistence of the condition, so genetic studies were performed where a de novo heterozygous mutation was detected in the NOD2 gene, which is associated with Blau syndrome.

Conclusions

Autoinflammatory syndromes, although they occur mostly in childhood, should not be ruled out in adults. In our country there are no known cases of Blau syndrome manifesting in adulthood, so this case report will help us inform the scientific community about it.