First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in ATP7B and BTK genes.

INTRODUCTION: Wilson disease is characterized by an alteration in copper metabolism that causes its accumulation in different tissues. Its diagnosis is established by the combination of clinical manifestations and paraclinical and genetic studies. Bruton agammaglobulinemia is an X-linked recessive hereditary disease belonging to the group of primary immunodeficiencies and is produced by mutation in the Bruton tyrosine kinase (BTK) gene. CASE REPORT: A 14-year-old Colombian patient with clinical characteristics of Bruton agammaglobulinemia presented with liver disease and clinically and molecularly diagnosed with Wilson disease. DISCUSSION: Bruton agammaglobulinemia and Wilson disease are considered rare diseases because of their low prevalence. We report for the first time a pediatric patient from southwestern Colombia presenting with both entities, and diagnosed clinically and molecularly, an association so far not reported in the literature.

First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in ATP7B and BTK genes

Introduction: Wilson disease is characterized by an alteration in copper metabolism that causes its accumulation in different tissues. Its diagnosis is established by the combination of clinical manifestations and paraclinical and genetic studies. Bruton agammaglobulinemia is an X-linked recessive hereditary disease belonging to the group of primary immunodeficiencies and is produced by mutation in the Bruton tyrosine kinase (BTK) gene. Case report: A 14-year-old Colombian patient with clinical characteristics of Bruton agammaglobulinemia presented with liver disease and clinically and molecularly diagnosed with Wilson disease. Discussion: Bruton agammaglobulinemia and Wilson disease are considered rare diseases because of their low prevalence. We report for the first time a pediatric patient from southwestern Colombia presenting with both entities, and diagnosed clinically and molecularly, an association so far not reported in the literature (AU)

Tuberculosis musculoesquelética que imita neoplasia de tejidos blandos: A propósito de dos casos / Musculoskeletal Tuberculosis mimicking soft tissue neoplasms: report of two cases

Resumen La tuberculosis (TB) es una de las enfermedades infecciosas con mayor carga de morbimortalidad a nivel mundial,la presentación pulmonar es la forma más común, sin embargo, las manifestaciones extrapulmonares, especialmente las osteoarticulares, pueden ser difíciles de diagnosticar debido a sus síntomas inespecíficos sugestivos de otras entidades como neoplasias o enfermedades infiltrativas, lo que hace de su diagnóstico un reto clínico. Está enfermedad esta asociada a múltiples factores de riesgo como inmunosupresión, contacto cercano con pacientes con tuberculosis, hacinamiento, residir en zona endémica, entre otros. A continuación, se presentan dos casos de pacientes pediátricos sin compromiso inmune que cursaron con cuadros sugestivos de neoplasias musculoesqueleticas, con hallazgos imagenológicos congruentes, pero con estudios microbiológicos positivos para TB.

Abstract Tuberculosis (TB) is one of the infectious diseases with the highest burden of morbidity and mortality worldwide. Pulmonary presentation is the most common, however, extrapulmonary manifestations, especially osteoarticular, can be difficult to diagnose due to their nonspecific symptoms suggestive of other entities such as neoplasms or infiltrative diseases. Tuberculosis is also associated with multiple risk factors, especially immunosuppression, and among others, household contact with patients with tuberculosis or residing in an endemic area. We present two pediatric patients without immunecompromise, with clinical history suggestive of musculoskeletal neoplasms, with congruent imaging findings, but with positive microbiological studies for TB.