Clinical Features, Non-Infectious Manifestations and Survival Analysis of 161 Children with Primary Immunodeficiency in Mexico: A Single Center Experience Over two Decades.

PURPOSE: The hallmark of Primary immunodeficiencies (PID) is unusual infection, although other immunological non-infectious manifestations such as autoimmunity, allergy and cancer are often present. Most published reports focus on one disease or defect groups, so that a global prevalence of non-infectious manifestations of PID is hard to find. We aimed to describe the clinical features of our pediatric patients with PID, as well as the frequency and evolution of allergy, cancer and autoimmunity. METHODS: We reviewed all the available charts of patients being followed for PID from 1991 to the spring of 2012 at the National Institute of Pediatrics, Mexico City, to describe their demographic, clinical and laboratory features. Their diagnoses were established by pediatric immunologists in accordance to ESID criteria, including routine immunological workup and specialized diagnostic assays. We divided patients by decade of diagnosis to analyze their survival curves. RESULTS: There were 168 charts available, from which we excluded one duplicate and six equivocal diagnoses. We studied the charts of 161 PID patients (68% male, 86% alive), mostly from the center of the country, with a positive family history in 27% and known consanguinity in 11%. Eighty percent of the patients were diagnosed during the last decade. Current median age was 124 months; median age at onset of infections, 12 months; median age at diagnosis, 52 months; median age at death, 67.5 months. Severe infection and bleeding were the cause of 22 deaths. Eighty-six percent of all patients had at least one infection, while non-infectious manifestations had a global prevalence of 36%, namely: autoimmunity 19%, allergies 17%, and cancer 2.4%. Survival curves were not significantly different when compared by decade of diagnosis. CONCLUSIONS: Compared to other registry reports, we found a lower prevalence of antibody defects, and of associated allergy and cancer. We could only locate two isolated IgA deficiencies and four cases of cancer among our PID patients. Although antibody defects are the most prevalent group (30%), the distribution we found is similar to that reported in Iran, Kuwait, Egypt and Taiwan, with a close 27% share for phagocyte defects, and 26% for the formerly called "well-defined" syndromes. Of note, autoimmune and inflammatory complications are high among our patients with chronic granulomatous disease, as has been reported in both the United States and Japan, but not in Europe.

Empiema cerebral por Escherichia coli en un lactante de 5 meses: reporte de caso y revisión del tema / Brain empyema due to Escherichia coli in a 5 month-old infant: a case report and literature review

Introducción: el empiema cerebral en pediatría es una rara infección intracraneal que puede ser secundaria a una meningitis, sinusitis, o por mecanismos como trauma craneal, cirugía neurológica o como resultado de la diseminación hematógena desde un sitio remoto. Objetivo: describir un caso de empiema cerebral causado por Escherichia coli en un lactante. Metodología: presentar un caso clínico, con aislamiento de Escherichia coli fuera del periodo gris de la meningitis. Se realiza una revisión acerca de los factores de riesgo, la etiología y tratamiento del empiema cerebral en niños. Resultados: masculino de 5 meses, sin inmunodeficiencia, cráneo con plagiocefalia; antecedente de otitis de 3 semanas de evolución previo a su ingreso al hospital. El paciente manifestó fiebre, crisis convulsivas y deterioro rostro-caudal. El líquido cefalorraquídeo con pleocitosis e hipoglucorraquia. Las imágenes tomográficas revelaron la presencia de empiema cerebral. Se logró el aislamiento de Escherichia coli en el cultivo, requirió drenaje quirúrgico y antibioticoterapia sistémica por 4 semanas. Conclusiones: el empiema cerebral por Escherichia coli en lactantes después del periodo gris es muy raro. Su tratamiento consiste en la evacuación quirúrgica oportuna, la erradicación del foco infeccioso primario y la administración apropiada de antimicrobianos sistémicos.

Introduction: Brain empyema in children is a rare intracranial infection that may result from meningitis, sinusitis, or mechanisms such as head trauma, neurological surgery or hematogenous spread from a remote site. Objective: To describe a case of brain empyema caused by Escherichia coli in an infant. Methodology: A case report is presented with isolation of Escherichia coli arising after the overlap period of meningitis (1-3 months). A literature review of the risk factors, etiology and treatment of brain empyema in children is conducted. Results: The case report is about a 5 month-old male infant with no history of immunodeficiency, plagiocephalic, and with a 3 week-long history of otitis prior to admission. The patient had fever, seizures and rostro-caudal deterioration, cerebrospinal fluid pleocytosis and hypoglycorrhachia. The tomographic images revealed brain empyema. It was posible to isolate Escherichia coli from culture and surgical drainage was required plus systemic antibiotic therapy for 4 weeks. Conclusions: Brain empyema caused by Escherichia coli in infants after the overlap period are very rare. Treatment consists in prompt surgical evacuation, eradication of the primary infection and proper administration of systemic antimicrobials.