ABSTRACT
Severe acute liver failure (SALF) is a rare condition in children. Up to 50% of the cryptogenic causes of SALF are associated with autoimmune hepatitis (AIH). This report presents a 5-year-old girl with progressive jaundice for 10 days. Her 1999 AIH diagnostic score totaled 11 points, compatible with probable AIH. She fulfilled the SALF criteria and the King's College criteria for liver transplantation, despite treatment with corticosteroids, and underwent the transplant, but died in the immediate postoperative period due to massive bleeding. Subsequently, the liver-kidney microsome type 1 result was 1:80, increasing the AIH score to 13 points. The final diagnosis was probable AIH type 2, associated with SALF. The biopsy of the explanted liver was compatible with fulminant hepatitis. This report highlights the difficult diagnosis of AIH in SALF, limitations of the diagnostic criteria for SALF in indications for emergency transplantation, and the uncertain therapeutic response produced by corticosteroids.
ABSTRACT
Abstract Objective: To evaluate the demographics, genotype, and clinical presentation of pediatric patients presenting with distal intestinal obstruction syndrome (DIOS), and factors associated with DIOS recurrence. Methods: Case series of ten patients (median age 13.2 years), followed-up in a reference center, retrospectively assessed. Data analyzed included age, gender, cystic fibrosis genotype, meconium ileus at birth, hydration status, pulmonary exacerbation, Pseudomonas aeruginosa colonization, pancreatic insufficiency (PI), body mass index (BMI) at the episodes, clinical manifestations of DIOS, imaging studies performed, acute management of DIOS, maintenance therapy, and recurrence on follow-up. Results: All patients had two positive sweat chloride tests, and nine of ten also had genotype study. The most common genotype identified was homozygosis for the delta F508 mutation. In seven cases, a previous history of meconium ileus was reported. All patients had pancreatic insufficiency. Diagnosis of DIOS was based on clinical and imaging findings. Of the total number of episodes, 85% were successfully managed with oral osmotic laxatives and/or rectal therapy (glycerin enema or saline irrigation). Recurrence was observed in five of ten patients. Conclusion In this first report of pediatric DIOS in South America, the presence of two risk factors for DIOS occurrence was universal: pancreatic insufficiency and severe genotype. Medical history of meconium ileus at birth was present in most patients, as well as in the subgroup with DIOS recurrence. The diagnosis relied mainly on the clinical presentation and on abdominal imaging. The practices in the management of episodes varied, likely reflecting changes in the management of this syndrome throughout time.
Resumo Objetivo: Avaliar os dados demográficos, o genótipo e o quadro clínico de pacientes pediátricos que apresentam síndrome da obstrução intestinal distal (DIOS) e os fatores associados à recidiva da DIOS. Métodos: Casuística de 10 pacientes (média de 13,2 anos) monitorados em um centro de referência e avaliados de forma retroativa. Os dados analisados incluíram idade, sexo, genótipo da fibrose cística, íleo meconial no nascimento, estado de hidratação, exacerbação pulmonar, colonização por Pseudomonas aeruginosa, insuficiência pancreática (IP), IMC nos episódios, manifestações clínicas da DIOS, estudos de diagnóstico por imagem realizados, manejo agudo da DIOS, terapia de manutenção e recidiva no acompanhamento. Resultados: Todos os pacientes apresentaram dois exames de cloreto no suor positivos e 09/10 também apresentaram estudo do genótipo. O genótipo mais comum identificado foi a homozigose da mutação delta F508. Em sete casos foi mencionado um histórico de íleo meconial. Todos os pacientes apresentaram insuficiência pancreática. O diagnóstico da DIOS teve como base achados clínicos e de imagem; 85% do número total de episódios foram tratados com sucesso com laxantes osmóticos orais e/ou terapia retal (enema de glicerina ou irrigação salina). A recidiva foi observada em 5 de 10 pacientes. Conclusão: Neste primeiro relatório da DIOS pediátrica na América do Sul, a presença de dois fatores de risco na ocorrência da DIOS foi universal: insuficiência pancreática e genótipo associado a doença grave. O histórico de íleo meconial no nascimento esteve presente na maioria dos pacientes, bem como no subgrupo com recidiva da DIOS. O diagnóstico dependeu principalmente do quadro clínico e do diagnóstico por imagem abdominal. As práticas de manejo de episódios variaram, provavelmente refletiram as mudanças no tratamento dessa síndrome ao longo do tempo.
Subject(s)
Humans , Child , Adolescent , Exocrine Pancreatic Insufficiency/diagnosis , Exocrine Pancreatic Insufficiency/etiology , Exocrine Pancreatic Insufficiency/therapy , Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Cystic Fibrosis/genetics , South America , Retrospective Studies , Intestinal Obstruction/diagnosis , Intestinal Obstruction/etiology , Intestinal Obstruction/therapyABSTRACT
OBJECTIVE: To evaluate the demographics, genotype, and clinical presentation of pediatric patients presenting with distal intestinal obstruction syndrome (DIOS), and factors associated with DIOS recurrence. METHODS: Case series of ten patients (median age 13.2 years), followed-up in a reference center, retrospectively assessed. Data analyzed included age, gender, cystic fibrosis genotype, meconium ileus at birth, hydration status, pulmonary exacerbation, Pseudomonas aeruginosa colonization, pancreatic insufficiency (PI), body mass index (BMI) at the episodes, clinical manifestations of DIOS, imaging studies performed, acute management of DIOS, maintenance therapy, and recurrence on follow-up. RESULTS: All patients had two positive sweat chloride tests, and nine of ten also had genotype study. The most common genotype identified was homozygosis for the delta F508 mutation. In seven cases, a previous history of meconium ileus was reported. All patients had pancreatic insufficiency. Diagnosis of DIOS was based on clinical and imaging findings. Of the total number of episodes, 85% were successfully managed with oral osmotic laxatives and/or rectal therapy (glycerin enema or saline irrigation). Recurrence was observed in five of ten patients. CONCLUSION: In this first report of pediatric DIOS in South America, the presence of two risk factors for DIOS occurrence was universal: pancreatic insufficiency and severe genotype. Medical history of meconium ileus at birth was present in most patients, as well as in the subgroup with DIOS recurrence. The diagnosis relied mainly on the clinical presentation and on abdominal imaging. The practices in the management of episodes varied, likely reflecting changes in the management of this syndrome throughout time.
Subject(s)
Cystic Fibrosis , Exocrine Pancreatic Insufficiency , Intestinal Obstruction , Adolescent , Child , Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Cystic Fibrosis/genetics , Exocrine Pancreatic Insufficiency/diagnosis , Exocrine Pancreatic Insufficiency/etiology , Exocrine Pancreatic Insufficiency/therapy , Humans , Intestinal Obstruction/diagnosis , Intestinal Obstruction/etiology , Intestinal Obstruction/therapy , Retrospective Studies , South AmericaABSTRACT
Alzheimer's disease (AD) is characterized by mental and cognitive problems, particularly with memory, language, visuospatial skills (VS), and executive functions (EF). Advances in the neuroimaging of AD have highlighted dysfunctions in functional connectivity networks (FCNs), especially in the memory related default mode network (DMN). However, little is known about the integrity and clinical significance of FNCs that process other cognitive functions than memory. We evaluated 22 patients with mild AD and 26 healthy controls through a resting state functional MRI scan. We aimed to identify different FCNs: the DMN, language, EF, and VS. Seed-based functional connectivity was calculated by placing a seed in the DMN (posterior cingulate cortex), language (Broca's and Wernicke's areas), EF (right and left dorsolateral prefrontal cortex), and VS networks (right and left associative visual cortex). We also performed regression analyses between individual connectivity maps for the different FCNs and the scores on cognitive tests. We found areas with significant decreases in functional connectivity in patients with mild AD in the DMN and Wernicke's area compared with controls. Increased connectivity in patients was observed in the EF network. Regarding multiple linear regression analyses, a significant correlation was only observed between the connectivity of the DMN and episodic memory (delayed recall) scores. In conclusion, functional connectivity alterations in mild AD are not restricted to the DMN. Other FCNs related to language and EF may be altered. However, we only found significant correlations between cognition and functional connectivity in the DMN and episodic memory performance.
