-We studied the incidence and prognosis of acute neurologic complications in 281 children under 13 years of age with a diagnosis of acute bacterial meningitis. All the patients were examined daily by the same group of neurologists, using a standardized neurological examination. Patients with signs of encephalic lesions, unsatisfactory response to antibiotics or decreased level of consciousness were submitted to brain computer tomography. The overall lethality rate was 20.3% and cases whose causative agent was identified presented a higher lethality rate (23.7%) than those in which the agent was not found. The most important neurological abnormalities were meningeal signs (88.3%) followed by decreased consciousness (47.7%), irritability (35.2%), seizures (22.4%), fontanel bulging (20.6%) and cranial nerve palsy (14.2%). Seizures, cranial nerve palsy and the absence of meningeal signs were related to higher rates of lethality. Diminished consciousness, seizures, subdural effusion, abscess and hydrocephalus were the most important complications, respectively. We can conclude that acute bacterial meningitis continues to be an important health problem in developing countries and that public health measures will be necessary to minimize the impact of sequelae and reduce the mortality rate in children with that pathology.KEY WORDS: pyogenic meningitis, bacterial meningitis, septicemia, meningitis in children.Although the use of antibiotics has dramatically changed the mortality of patients with pyogenic meningitis, management of neurological complications remains as a significant problem 6,7 . Fatalities may occur in spite of appropriate treatment and may be related to cerebral edema, vasculitis,
Although not considered as an endemic region, the Northeast of Brazil has the necessary conditions for the development of taeniasis-cysticercosis complex. In a previous paper, we demonstrated that Mulungu do Morro municipality, in the State of Bahia, has a high seroprevalence to cysticercosis in epileptic patients. OBJECTIVE: to determine the prevalence of taeniasis and positive cysticercosis serology in the population of Mulungu do Morro. METHOD: blood and stool samples were collected from a random sampling of the population, by family. The identification of antibodies against T. solium cysticerci was made by EITB and T. solium antigens were identified using a polyclonal antibody-capture ELISA. RESULTS: the cysticercosis seroprevalence was 1.6% (C.I. = 0.8 to 2.8%) and the taeniasis prevalence 4.5% (C.I. = 3.0 to 6.5%). Seropositivity to cysticercosis was higher among those who lived in a house of a person testing positive for coproantigen, p=0.017. CONCLUSION: our results demonstrate that the taeniasis-cysticercosis complex is endemic in Mulungu do Morro. We believe that all areas in the world with the same socio-economic and sanitary characteristics are likely to have high prevalence of this parasite.
BackgroundKBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over 100 cases of KBG syndrome reported.Case presentationHere, we describe two sisters of a non-consanguineous family, both presenting generalized epilepsy with febrile seizures (GEFS+), and one with a more complex phenotype associated with mild intellectual disability, skeletal and dental anomalies. Whole exome sequencing (WES) analysis in all the family members revealed a heterozygous SCN9A mutation, p.(Lys655Arg), shared among the father and the two probands, and a novel de novo loss of function mutation in the ANKRD11 gene, p.(Tyr1715*), in the proband with the more complex phenotype. The reassessment of the phenotypic features confirmed that the patient fulfilled the proposed diagnostic criteria for KBG syndrome, although complicated by early-onset isolated febrile seizures. EEG abnormalities with or without seizures have been reported previously in some KBG cases.The shared variant, occurring in SCN9A, has been previously found in several individuals with GEFS+ and Dravet syndrome.ConclusionsThis report describe a novel de novo variant in ANKRD11 causing a mild phenotype of KGB syndrome and further supports the association of monogenic pattern of SCN9A mutations with GEFS+. Our data expand the allelic spectrum of ANKRD11 mutations, providing the first Brazilian case of KBG syndrome. Furthermore, this study offers an example of how WES has been instrumental allowing us to better dissect the clinical phenotype under study, which is a multilocus variation aggregating in one proband, rather than a phenotypic expansion associated with a single genomic locus, underscoring the role of multiple rare variants at different loci in the etiology of clinical phenotypes making problematic the diagnostic path. The successful identification of the causal variant in a gene may not be sufficient, making it necessary to identify other variants that fully explain the clinical picture. The prevalence of blended phenotypes from multiple monogenic disorders is currently unknown and will require a systematic re-analysis of large WES datasets for proper diagnosis in daily practice.
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