Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome

Objective: Several endocrine manifestations have been described in patients with 22q11 deletion syndrome, including growth retardation, hypoparathyroidism, and thyroid disorders. This study aimed to characterize these abnormalities in a Colombian retrospective cohort of children with this condition. Methods: A retrospective study comprising a cohort of children with 22q11 deletion syndrome in Medellín, Colombia followed up between 2011 and 2017 was conducted. Results: Thirty-seven patients with a confirmed diagnosis of 22q11 deletion syndrome were included. 37.8% had some endocrinopathy, the most frequent being hypoparathyroidism (21.6%), followed by hypothyroidism (13.5%), hyperthyroidism (2.7%) and growth hormone deficiency (2.7%). There was wide heterogeneity in the clinical presentation, with late onset of severe hypocalcemia associated with seizure or precipitated in postoperative cardiac surgery, which highlights the importance of continuous follow-up as indicated by the guidelines. Short stature was mainly related to nutritional factors. Growth monitoring is required with the use of syndrome-specific charts and careful monitoring of the growth rate. Conclusion: As previously reported, a significant proportion of patients with endocrine abnormalities were found in this cohort. This highlights that it is essential to carry out an adequate multidisciplinary follow-up, based on the specific clinical guidelines, in order to avoid serious complications such as convulsions due to hypocalcemia. It is important to track size with curves specific to the syndrome and analyze the growth rate.

Incidencia de meningitis en lactantes con crisis febriles simples. Experiencia en un hospital de 3er nivel / Incidence of meningitis in infants with simple febrile seizures. Experience in a 3th level hospital

IINTRODUCCIÓN. Se denominan convulsiones febriles (CF) simples aquellas crisis generalizadas, autolimitadas, de menos de 15 minutos de duración, sin recurrencia en las primeras 24 horas y sin alteración neurológica postictal. Las CF constituyen el cuadro convulsivo más frecuente en niños menores de 5 años y se caracterizan por ser eventos benignos y autolimitados. Aproximadamente 2-4% de los niños tienen al menos una CF en algún momento de la vida. OBJETIVO. Determinar la incidencia de meningitis en niños menores de 18 meses de edad con un primer episodio de convulsión febril simple. MATERIAL Y MÉTODOS. Revisión retrospectiva de historias clínicas de pacientes entre 3 y 18 meses que consultaron a urgencias del Hospital Universitario San Vicente Fundación (HUSVF), en Medellín, por un primer episodio de convulsión febril simple, entre 2006 y 2011. RESULTADOS. Se revisaron 286 registros de pacientes con diagnóstico de convulsión febril, 79 (27%) correspondían a CF simple. 50 niños (63%) tenían menos de 12 meses, Se realizó punción lumbar en 45 (57%), y se identificaron 6 casos con pleocitosis, uno de los cuáles fue considerado meningitis bacteriana y tres como meningitis aséptica. Dos casos adicionales se consideraron meningitis parcialmente tratada. Los niños con meningitis o meningitis parcialmente tratada tenían sígnos clínicos sospechosos, habían recibido antibióticos o tenía vacunación incompleta. CONCLUSIÓN. La meningitis en niños con CF simple es poco frecuente y los casos sospechosos pueden detectarse con los criterios de la Academia Americana de Pediatría; si se realiza punción lumbar a niños que han recibido antibióticos, con vacunas incompletas o con signos clínicos neurológicos. La punción lumbar no debe ser rutinaria en casos de CF. Debe estudiarse el perfil epidemiologico de las de las infecciones por neumococo en Colombia, luego de la inclusión de la vacuna de 10 serotipos, para determinar su efecto en el riesgo de meningitis.

INTRODUCCTION. Febrile seizures (FS) are defined as generalized, self limited crisis lasting less than 15 minutes with no recurrence in 24 hours and without neurological inpairment in the post ictal period. FS are the most common cause for convulsions in patients less than 5 years old. These type of crisis are benign and self-limited . FS Lifetime incidence has been calculated between 2-4% in pediatric population. OBJECTIVE. To determine the inicidence of meningitis in children under 18 months with first simple febrile seizure (FS). Materials and METHODS. A retrospective review of medical records of patients 3 to 18 months of age who visited the emergency room at the Hospital Universitario San Vicente Fundación (HUSVF) after first episode of simple febrile seizure (FS), between January 2005 and December 2010. RESULTS. We analized 286 clinical records of patients between 3 and 18 months of age with febrile seizures, 79 (27%) were considered a single FS. Fifty-patients were under 12 months of age (63%). Lumbar puncture was performed in 45 children (57%) and there were 6 children with pleocytosis, one of them was considered as bacterial meningitis, and three as aseptic meningitis. Two cases had diagnosis of partially treated meningitis. Children with suspected meningitis had abnormal neurological signs, had previously received antibiotics or had incomplete vaccination. CONCLUSION. Meningitis in children with simple FS is not frequent and all cases could be detected according to the criteria of the American Academy of Pediatrics to perform lumbar puncture in children who previously received antibiotics, had incomplete vaccination or have positive neurological signs. Routine lumbar puncture in children with simple CF must be discouraged. The current state of pneumococcal infections in Colombia after implementation of immunization 10 serotypes vaccine must be assessed, in order to know the effect of vaccination status on the risk of meningitis in children with FS.

Prevalence of Tics Among 6- to 12-Year-Old Schoolchildren in the Itagui Municipality, Colombia, in 2010.

Tics are the most frequent movement disorder in children and they are most prevalent during the school-age years. Most tics are transitory; however, certain tics can be chronic, causing negative repercussions at school, within the family, and socially. In some cases, tics are associated with obsessive compulsive disorder, attention-deficit hyperactivity disorder (ADHD) and other conditions that require diagnosis and prompt treatment. In South America, there are no indexed studies determining the prevalence of tics in school-age children. The aim of this study was to establish the prevalence of tics in schoolchildren aged 6 to 12 years. From 16 000 students aged 6 to 12 years who were enrolled in first to fifth grade, a sample of 346 school-aged children was chosen via a multistage sampling process that randomized the educational systems in terms of proportional size and the stratification between public and private schools and adjusted for the design effect. The students were screened and those who were positive for tics underwent clinical evaluations and semistructured interviews by the researchers to determine the prevalence of the disease. The parents and teachers of 323 students returned our surveys (93.3%). One hundred thirty-eight students (42.7%) were considered positive for tics based on parents' and teachers' reports. The clinical evaluation established a 17.97% prevalence of tics (58 students), and 25 students (43.2%) also met diagnostic criteria for ADHD. Of the students with tics, 27.6% presented with transitory tics, and 72.4% presented with chronic tics. Gilles de la Tourette syndrome was detected in 11 of the children (3.4%). The average age of child with tics was 9 ± 1.5 years, and the majority of the children with tics attended third grade at a basic primary school. Children from public and private schools were equally likely to present with tics. Tics are noteworthy in our field and are associated with other neurobehavioral disorders, such as ADHD. Both tic disorders and ADHD require diagnosis and prompt treatment to promote social and school performance.