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1.
J Child Neurol ; 39(3-4): 113-121, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38488459

RESUMO

OBJECTIVE: The primary objective was to elucidate the epidemiologic characteristics, risk determinants, and clinical outcomes associated with Pseudomonas aeruginosa-induced meningitis. METHODS: All cases of meningitis caused by Pseudomonas aeruginosa that were treated at the hospital between 2012 and 2022 were retrospectively analyzed and detailed. RESULTS: During a 10-year period, only 10 patients satisfied the inclusion criteria. Three patients had previously undergone neurosurgical procedures and 4 patients had leukemia. CONCLUSIONS: Although Pseudomonas aeruginosa meningitis possesses a low incidence rate, the rate of mortality is high. Patients with leukemia or those who have undergone neurosurgery are the most susceptible to diagnosis. Cases of severe neutropenia present only mild or no cerebrospinal fluid pleocytosis. In patients with sensitive Pseudomonas aeruginosa meningitis, the timely use of anti-Pseudomonas carbapenems for intravenous treatment is highly effective. For drug-resistant Pseudomonas aeruginosa meningitis, intrathecal polymyxins administration can be an effective treatment option.


Assuntos
Antibacterianos , Meningites Bacterianas , Infecções por Pseudomonas , Pseudomonas aeruginosa , Humanos , Masculino , Feminino , Infecções por Pseudomonas/tratamento farmacológico , Infecções por Pseudomonas/epidemiologia , Criança , Estudos Retrospectivos , Pré-Escolar , Meningites Bacterianas/tratamento farmacológico , Meningites Bacterianas/epidemiologia , Meningites Bacterianas/complicações , Antibacterianos/uso terapêutico , Lactente , Adolescente
2.
Am J Case Rep ; 24: e942377, 2023 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-38019730

RESUMO

BACKGROUND RASopathies involve mutations in genes that encode proteins participating in the RAS-mitogen-activated protein kinase pathway and are a collection of multisystem disorders that clinically overlap. Variants in the SHOC2 gene have been reported in Noonan-like syndrome, which include distinct facial features, short stature, congenital cardiac defects, developmental delays, bleeding disorders, and loose anagen hair. This report is of a 7-year-old girl with the c.4A>G (p.Ser2Gly) variant of the SHOC2 gene, consistent with Noonan-like syndrome, with loose anagen hair, presenting with thrombotic thrombocytopenic purpura and autoimmune hemolytic anemia. CASE REPORT The child had a medical history of 7 hospitalizations at our institution. At the age of 2 months, she underwent surgical correction for ventricular and atrial septal defects. At the age of 2 years, tonsil and adenoid removal surgery was performed, followed by surgery for otitis media at age 5 years. At 7 years, she was hospitalized for the simultaneous occurrence of thrombotic thrombocytopenic purpura and autoimmune hemolytic anemia. The patient displayed short stature and mild intellectual disability. Notable facial features included sparse hair, mild frontal bossing, and low-set ears. Antinuclear antibody levels demonstrated a significant gradual shift. Through trio whole-exome sequencing, a c.4A>G (p.Ser2Gly) variation in the SHOC2 gene was identified. CONCLUSIONS Given the clinical information and genetic testing results, the patient's condition appeared to closely be a type of RASopathy. This report has highlighted the importance of physical, developmental, and genetic testing in children presenting with dysmorphism, developmental delay, and hematological abnormalities.


Assuntos
Anemia Hemolítica Autoimune , Síndrome de Noonan , Púrpura Trombocitopênica Trombótica , Feminino , Humanos , Criança , Pré-Escolar , Lactente , Fenótipo , Anemia Hemolítica Autoimune/complicações , Anemia Hemolítica Autoimune/diagnóstico , Anemia Hemolítica Autoimune/genética , Síndrome de Noonan/genética , Mutação , Peptídeos e Proteínas de Sinalização Intracelular/genética
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