ABSTRACT
Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). This spectrum of disorders are caused by several alterations in the gene coding for the alpha subunit of the G protein (GNAS): an ubiquitous signaling protein that mediates the action of numerous hormones such as PTH, TSH, gonadotropins, and ACTH, among others. According to their inheritance with maternal or paternal imprinting, they may manifest in a diversity of clinical forms. Although most commonly diagnosed during childhood, PHP may manifest clinically during adolescence or early adulthood. We report two late presenting cases of pseudohypoparathyroidism. A 21-year-old female with biochemical abnormalities characteristic of pseudohypoparathyroidism who was misdiagnosed as epilepsy and a 13-year-old boy with the classic AHO phenotype but without alterations in phospho-calcium metabolism, compatible with pseudopseudohypoparathyrodism.
Subject(s)
Humans , Male , Female , Adolescent , Young Adult , Pseudohypoparathyroidism/diagnostic imaging , Time Factors , Tomography, X-Ray ComputedABSTRACT
Introduction: Prolonged febrile syndrome (PFS) is defined as fever 7-10 days, with initial study does not allow etiologic diagnosis. Objective: To describe the main causes of the PFS and its temporal behavior in Pediatric Infectious Diseases Unit Outpatient Care of Complejo Asistencial Dr. Sótero del Río (CASR). Patients and Methods: A descriptive, prospective study between january 2007-december 2012, about 153 patients from 6 weeks to 14 years 11 months old, diagnosed with PFS, tab completing clinical and laboratory monitoring. Results: etiology was obtained in 67.9%, the causes were infection (88.4%), neoplasms (4.8%), rheumatological (4.8%) and Kawasaki disease (2.8%). The most important infectious causes were enteric fevers (typhoid and paratyphoid) (18.4%), urinary tract infection (11.9%), Bartonella henselae infections and adenovirus (8.7%) each one and Epstein Barr virus (7.6%). Ninety eight percent of patients had complete resolution, 60.7% did not require hospitalization and mortality was 0%. Discussion: As in previous pediatric clinical series the infections were the most frequent causes. Enteric fever persists as principal cause, however, the epidemiological evidence is oscillating in time endorsing the local statistics can count over the years to improve the diagnostic and therapeutic approach.
Introducción: El síndrome febril prolongado (SFP) se define como fiebre entre 7-10 días, con estudio inicial que no permite un diagnóstico etiológico. Objetivo: Describir las principales etiologías del SFP y su comportamiento temporal en la unidad de infectología pediátrica ambulatoria del Complejo Asistencial Dr. Sótero del Río (CASR). Pacientes y Método: Estudio descriptivo, prospectivo, entre enero de 2007-diciembre de 2012. Análisis de 153 pacientes entre 6 semanas y 14 años 11 meses de edad, con diagnóstico de SFP, que completaron ficha de seguimiento clínico-laboratorial. Resultados: Se obtuvo diagnóstico etiológico en 67,9%, las causas fueron: infecciones (88,4%), neoplasias (4,8%), reumatológicas (4,8%) y enfermedad de Kawasaki (2,8%). Las causas infecciosas más importantes fueron: fiebres entéricas (tifoidea y paratifoidea) (18,4%), infección del tracto urinario (11,9%), enfermedades por Bartonella henselae y adenovirus (8,7%) cada uno y virus de Epstein Barr (7,6%). El 98% de los pacientes tuvo resolución completa, 60,7% no requirió hospitalización y no se registraron decesos. Discusión: Como en las series clínicas antes publicadas, las infecciones fueron la causa más frecuente de SFP. La fiebre entérica persiste como causa principal; sin embargo, se evidencia una situación epidemiológica oscilante en el tiempo justificando la necesidad de contar con estadísticas locales a lo largo de los años para mejorar el enfoque diagnóstico y terapéutico.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Fever of Unknown Origin/etiology , Outpatient Clinics, Hospital/statistics & numerical data , Prospective Studies , Typhoid Fever/diagnosisABSTRACT
Introduction: Efficacy and effectiveness of varicella vaccine (VV) as post exposure prophylaxis (PEP) strategy have shown discordant results for disease risk reduction, and more consistent results in their ability to attenuate the disease. Aim: To assess the effectiveness of VV as PEP among household contacts. Material and Methods: We followed up 33 children after household exposure to a varicella case, of which 15 received VV as PEP and 18 did not received VV. The presence and severity of the disease were clinically determined. Results: Secondary attack rate was 53% among vaccinated and 89% among non-vaccinated children. Overall effectiveness of VV as PEP was 40% (CI95% 1%-64%). The effectiveness for preventing moderate or severe disease was 63% (CI95% 8%-85%) in the entire group and 77% (CI95% 14%-94%) among children vaccinated during the first 3 days post exposure. Vaccine tolerance was acceptable, with a low number of adverse reactions, all of them mild. Conclusion: The results suggest that VV as PEP is effective among household contacts, especially for reducing the severity of the disease.
Introducción: Los estudios de eficacia y efectividad de la vacuna antivaricela (V AV) como profilaxis post exposición (PPE) han mostrado resultados disímiles en cuanto a la reducción del riesgo de enfermar, y algo más consistentes en su capacidad de atenuar la enfermedad. Objetivo: Evaluar la efectividad de la VAV como PPE utilizada en contactos domiciliarios. Material y Métodos: Se realizó el seguimiento post exposición de 33 contactos domiciliarios de casos de varicela, de los cuales 15 recibieron VAV como PPE y 18 no la recibieron. Se determinó clínicamente el desarrollo de enfermedad y la intensidad de la misma. Resultados: La tasa de ataque secundario fue 53% en vacunados y 89% en no-vacunados, siendo la efectividad global de la VAV como PEP 40% (IC95% 1%-64%). La efectividad para prevenir enfermedad moderada o intensa fue 63% (IC95% 8-85%) en el grupo completo y 77% (IC95% 14-94%) en los niños vacunados durante los primeros tres días post exposición. La tolerancia a la vacuna fue aceptable, con un bajo número de reacciones adversas, todas leves. Conclusión: Los resultados sugieren que la VAV es efectiva como PPE en contactos domiciliarios, especialmente para reducir la intensidad de la enfermedad.