Achados ultrassonográficos abdominais relacionados à dengue em um hospital do noroeste paulista / Abdominal ultrasound findings related to dengue in a hospital in northwest são paulo

Introdução: De evolução aguda, a dengue é uma doença infecciosa febril, arbovirose provocada pela picada do mosquito aedes aegypt, atualmente representada por quatro sorotipos virais. A infecção pelo vírus da dengue pode ser assintomática ou sintomática. Quando sintomática causa doença de amplo espectro clínico, incluindo desde formas oligossintomáticas até quadros graves, podendo levar ao óbito. Trata-se, portanto, de um problema de saúde pública nacional, responsável por inúmeras hospitalizações e óbitos, anualmente. Objetivos: A proposta do atual estudo baseia se em descrever os principais achados ultrassonográficos abdominais encontrados em pacientes com quadro sugestivo de dengue e demonstrar o valor da ultrassonografia como ferramenta preditiva na avaliação de casos de agravo. Material e Método: Estudo retrospectivo, descritivo por meio do qual se realizou a análise dos laudos de imagem abdominal de pacientes com casos sugestivos de dengue, atendidos em um hospital-escola, em Catanduva-SP, no primeiro semestre de 2022, submetidos a ultrassom abdominal na data de atendimento e cujos valores obtidos foram compilados em tabelas. Resultados: Os achados de 102 ultrassonografias analisadas apontam espessamento da parede da vesícula biliar (15,8%), líquido livre na cavidade abdominal e/ou pélvica (10,9%), esplenomegalia (10,0%), hepatomegalia (2,0%) e dilatação das vias biliares intra e extra-hepáticas (1,0%). Conclusão: Os achados ultrassonográficos abdominais são uma ferramenta adjuvante útil na avaliação de sinais de alarme, como ascite e visceromegalias, em pacientes com quadro sugestivo de dengue, especialmente a hemorrágica, bem como na detecção precoce da gravidade e da progressão da doença, portanto, um preditor de severidade.

Introduction: Of acute evolution, dengue is a febrile infectious disease, arbovirose caused by the bite of the mosquito Aedes aegypt, currently represented by four viral serotypes. Dengue virus infection may be asymptomatic or symptomatic. When symptomatic causes disease of broad clinical spectrum, including from oligosymptomatic forms to severe conditions, which can lead to death. It is therefore a national public health problem, responsible for numerous hospitalizations and deaths, annually. Objectives: The proposal of the current study is based on describing the main abdominal ultrasound findings found in patients with suggestive of dengue and demonstrate the value of ultrasound as a predictive tool in the evaluation of cases of illness. Material and Method: Retrospective, descriptive study through which the analysis of abdominal imaging reports of patients with cases suggestive of dengue, attended at the Padre Albino Hospital, Catanduva-SP, in the first half of 2022, was performed submitted to abdominal ultrasound at the date of care and whose values were compiled in tables. Results: The findings of 102 ultrasonographies analyzed indicate thickening of the gallbladder wall (15.8%), free fluid in the abdominal and/or pelvic cavity (10.9%), splenomegaly (10.0%), hepatomegaly (2.0%) and dilation of the extra biliary ways (1.0%). Conclusion: Abdominal ultrasonographic findings are a useful adjuvant tool in the evaluation of warning signs, such as ascites and visceromegaly, in patients with suggestive of dengue, especially hemorrhagic, as well as in the early detection of disease severity and progression, therefore a predictor of severity

Introducción: Con una evolución aguda, el dengue es una enfermedad infecciosa febril, un arbovirus causado por la picadura del mosquito Aedes aegypt, actualmente representado por cuatro serotipos virales. La infección por el virus del dengue puede ser asintomática o sintomática. Cuando es sintomático, provoca una enfermedad con un amplio espectro clínico, que incluye desde formas oligosintomáticas hasta casos graves, que pueden conducir a la muerte. Es, por tanto, un problema de salud pública nacional, responsable de numerosas hospitalizaciones y muertes anualmente. Objetivos: El propósito del presente estudio se basa en describir los principales hallazgos ecográficos abdominales encontrados en pacientes con síntomas sugestivos de dengue y demostrar el valor de la ecografía como herramienta predictiva en la evaluación de casos de enfermedad. Material y Método: Estudio descriptivo retrospectivo mediante el cual se analizó los informes de imágenes abdominales de pacientes con casos sugestivos de dengue, atendidos en el Hospital Padre Albino, Catanduva-SP, en el primer semestre de 2022, a quienes se les realizó ecografía abdominal en la fecha del servicio, y cuyos valores obtenidos fueron recopilados en tablas. Resultados: Los hallazgos de 102 ecografías analizadas indican engrosamiento de la pared vesicular (15,8%), líquido libre en cavidad abdominal y/o pélvica (10,9%), esplenomegalia (10,0%), hepatomegalia (2,0%) y dilatación de las vías biliares intra y extrahepáticas (1,0%). Conclusión: Los hallazgos de la ecografía abdominal son una herramienta coadyuvante útil en la evaluación de signos de alarma, como ascitis y visceromegalia, en pacientes con cuadro sugestivo de dengue, especialmente dengue hemorrágico, así como en la detección precoz de la gravedad y progresión de la enfermedad, por lo tanto, un predictor de gravedad.

Glycogenic hepatopathy is associated with type 1 diabetes mellitus in only a minority of cases in a contemporary adult population.

OBJECTIVES: This study examines the clinical-pathological profiles of patients with glycogenic hepatopathy in a contemporary cohort of patients at an adult acute care hospital. METHODS: Liver biopsies with glycogenic hepatopathy were retrieved from the departmental surgical pathology database, the histological findings were studied, and the clinical findings were reviewed. RESULTS: Five cases of glycogenic hepatopathy were found, including cases associated with type 1 diabetes mellitus (n = 1), type 2 diabetes mellitus (n = 1), corticosteroids (n = 2), and anorexia (n = 2, including the patient with type 1 diabetes). AST and ALT were normal to mildly elevated (13-115 U/L and 7-126 U/L, respectively). Trace ascites was present in two patients. Hepatomegaly was only present in the patient with type 1 diabetes at the time of diagnosis. CONCLUSIONS: Four of five cases were associated with etiologies other than type 1 diabetes, which is widely reported as the most common etiology of glycogenic hepatopathy. This study suggests that etiologies currently only rarely recognized may actually be more common causes of glycogenic hepatopathy than type 1 diabetes in a contemporary adult population. It is important not only to recognize that these rarely reported causes of glycogenic hepatopathy may be underrecognized, but that the clinical presentation may also be mild.

Hepatic amyloidosis: a prevalence study and clinical characterization of a rare and severe disease.

BACKGROUND AND AIM: Amyloidosis is a systemic disease characterized by extracellular deposition of amyloid protein, most commonly in the heart and kidney. Hepatic amyloidosis is a rare form of presentation that ranges from mild hepatomegaly and altered liver biochemical tests to acute liver failure. The aims of this study were to evaluate the prevalence of amyloidosis in patients undergoing liver biopsy and describe its main clinical characteristics and prognostic impact. METHODS: A retrospective analysis of all patients with a histological diagnosis of hepatic amyloidosis between January 2010 and December 2019 was performed. MAJOR RESULTS: A total of 7 patients were identified from a total of 1773 liver biopsy procedures (0.4%), with a female predominance (6/7) and median age of diagnosis of 62 years. The most common clinical manifestations included hepatomegaly (4/7), jaundice (2/7) and peripheral edema (2/7), whereas 3/7 patients were asymptomatic. Every patient presented abnormalities in liver biochemical tests, more commonly cholestasis (6/7), but also cytolysis (4/7) or hyperbilirubinemia (2/7). Abnormal imaging findings included hepatomegaly, steatosis or parenchymal heterogeneity. In most patients (5/7), other organs were involved, most commonly with nephrotic syndrome (3/7) and infiltrative cardiomyopathy (3/7). The most common type was AA amyloidosis (3/7) followed by AL amyloidosis (2/7). The 1-year mortality rate was 43% and the median survival was 24 months. CONCLUSIONS: We report a low prevalence (0.4%) of amyloidosis among patients undergoing liver biopsy. Although rare, hepatic amyloidosis is associated with a dismal prognosis and a high index of suspicion is crucial to achieve an early diagnosis. .

Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.

There is a broad differential diagnosis of infantile hepatosplenomegaly, with some etiologies being debilitating and treatable. A structured approach to history, examination, and laboratory and radiographic findings is important in diagnosis. Herein, we present a case of Wolman disease presenting as hepatosplenomegaly in an infant. This case details important learning points to help distinguish the diagnosis of Wolman disease from other conditions with overlapping clinical features, such as hemophagocytic lymphohistiocytosis (HLH). The advent of enzyme replacement therapy has dramatically changed the natural history of Wolman disease, and this child showed remarkable improvement with treatment. This child was later found to have extensive adenopathy with retroperitoneal lymph node biopsy demonstrating diffuse infiltration by lipid-laden macrophages, fatty deposits, cholesterol crystals, and calcifications. Similar to the collection of characteristic cells in other lysosomal storage disorders, we postulate that this is characteristic of underlying Wolman disease. We conclude with a summary of learning points from this presentation on infantile hepatosplenomegaly, pertinent to the geneticist, pediatrician, and pediatric subspecialists.

Visceral leishmaniasis: A leucaemia mimicker: A case report.

Visceral Leishmaniasis (VL) is endemic in the northeast part of India, principally Bihar, Jharkhand, Uttar Pradesh, and West Bengal. We report a case of VL from the non-endemic Himalayan region of Kashmir. A 25-year-old female presented with a history of fever, generalized weakness, loss of appetite for one month. On clinical examination, there was hepatosplenomegaly and pancytopenia. There was no travel history to any VL endemic areas. Bone marrow examination revealed an amastigote form of Leishmania Donovan. Nested polymerase chain reaction (PCR) confirmed diagnosis. The patient was treated with 6 mg/kg liposomal amphotericin B, for ten days and improved clinically. Our case reveals that VL is expanding towards non-endemic regions of India, and physicians should remember the differential diagnosis of VL in a patient presenting with fever, pancytopenia, and hepatosplenomegaly.

An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient.

Gaucher disease (GD) is a rare autosomal recessive metabolic disorder. It is characterized by a deficiency of lysosomal glucocerebrosidase, which results in the accumulation of glycosphingolipid substrates, primarily glucosylceramide, in the phagocyte system. In GD Type 1, the liver, spleen, and bone marrow are typically affected. We report the case of a 7-year-old female with GD Type 1 who presented with hepatosplenomegaly detected incidentally following a motor vehicle accident. She was found to have concomitant thrombocytopenia and Erlenmeyer flask deformities of her lower limbs. Diagnosis was made on the basis of very low leukocyte ß-glucocerebrosidase activity and elevated plasma chitotriosidase. DNA mutation studies revealed both c.1226A>G and c.116_1505 deletion (exons 3-11). The patient is currently managed with biweekly intravenous imiglucerase (Cerezyme) replacement therapy. She demonstrated resolution of thrombocytopenia and hepatosplenomegaly at 2-year follow-up. Physicians must consider this rare diagnosis in children presenting with hepatosplenomegaly to prompt timely management.

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.

Idiopathic ketotic hypoglycemia (IKH) is a diagnosis of exclusion with glycogen storage diseases (GSDs) as a differential diagnosis. GSD IXa presents with ketotic hypoglycemia (KH), hepatomegaly, and growth retardation due to PHKA2 variants. In our multicenter study, 12 children from eight families were diagnosed or suspected of IKH. Whole-exome sequencing or targeted next-generation sequencing panels were performed. We identified two known and three novel (likely) pathogenic PHKA2 variants, such as p.(Pro869Arg), p.(Pro498Leu), p.(Arg2Gly), p.(Arg860Trp), and p.(Val135Leu), respectively. Erythrocyte phosphorylase kinase activity in three patients with the novel variants p.(Arg2Gly) and p.(Arg860Trp) were 15%-20% of mean normal. One patient had short stature and intermittent mildly elevated aspartate aminotransferase, but no hepatomegaly. Family testing identified two asymptomatic children and 18 adult family members with one of the PHKA2 variants, of which 10 had KH symptoms in childhood and 8 had mild symptoms in adulthood. Our study expands the classical GSD IXa phenotype of PHKA2 missense variants to a continuum from seemingly asymptomatic carriers, over KH-only with phosphorylase B kinase deficiency, to more or less complete classical GSD IXa. In contrast to typical IKH, which is confined to young children, KH may persist into adulthood in the KH-only phenotype of PHKA2.

Transient infantile hypertriglyceridemia with jaundice: A case report.

RATIONALE: Transient infantile hypertriglyceridemia (HTGTI) is a rare autosomal recessive inherited disease caused by inactivating mutations in the glycerol-3-phosphate dehydrogenase 1 gene. To date, only a few patients have been reported worldwide. The symptoms of the affected individuals present a certain degree of transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis in early infancy. However, the clinical characteristics and pathogenesis of this disease are remain unclear. PATIENT CONCERNS: A one month and twenty-five days old girl was admitted to hospital because of persisted jaundice and hepatomegaly for fifty days. DIAGNOSE: The girl was diagnosed with HTGTI coincident with a noval mutation in glycerol-3-phosphate dehydrogenase 1. INTERVENTION: She was advised to take low-fat diet and supplement of medium-chain fatty acids. OUTCOMES: Her jaundice was gradually normal at the age of 4 months without any treatment, and hypertriglyceridemia were normal at the age of 13 months, but still had elevated transaminases and hepatic steatosis. LESSONS: Jaundice may be a novel phenotype in HTGTI. The report contributes to the expansion of HTGTI's gene mutation spectrum and its clinical manifestations.

Hepatoesplenomegalia relacionada a linfoma de Burkitt en paciente pediátrico / Hepatoesplenomegalia related to Burkitt´s lymphoma in a pediatric patient

RESUMEN El linfoma de Burkitt, se trata de un subtipo poco frecuente del linfoma no Hodgkin, con elevada frecuencia en aquellos pacientes con sida. La hepatoesplenomegalia es un signo clínico de gran importancia para el diagnóstico oportuno de algunas patologías; entre los mecanismos de formación de la hepatoesplenomegalia se encuentra la infiltración celular, ocasionada por la migración de células tumorales. Se presenta por inflamaciones debido a la presencia de infecciones por virus o bacterias las cuales son muy comunes en pacientes con sida. Se presentó un caso de un paciente masculino de 4 años, diagnosticado con VIH positivo, con la configuración correspondiente de criterios clínicos en clasificación C para sida. El cual desarrolló a nivel de cavidad oral un Burkitt primario, que se acompañó de hepatoesplenomegalia. Se pretendió describir la relación y el comportamiento de este tipo de linfoma con la hepatoesplenomegalia, así como la repercusión a nivel del sistema estomatognático, a nivel sistémico y el plan de tratamiento. Por el cuadro clínico e inmunológico del paciente estudiado, se planteó un pronóstico reservado por presentar un cuadro clínico infrecuente, en el que se observó Burkitt; tanto a nivel del sistema estomatognático como a nivel abdominal. Se hizo necesario realizar un diagnóstico oportuno y certero para iniciar el tratamiento a tiempo, se comenzó inmediatamente con tratamiento (AU).

ABSTRACT Burkitt lymphoma (BL) is a rare subtype of non-Hodgkin lymphoma, with high frequency in those patients with AIDS. Hepatosplenomegaly is a clinical sign of great importance for the timely diagnosis of some pathologies; cellular infiltration is found among the mechanisms of hepatosplenomegaly formation; it is caused by the migration of tumor cells. It emerges by inflammations due to the presence of infections by virus or bacteria which are very common in patients with AIDS. The authors present the case of a male patient, aged 4 years, with a positive HIV diagnosis, and the correspondent configuration of clinical criteria in C classification for AIDS, who developed a primary Burkitt lymphoma at the level of oral cavity We present the case of a 4-year-old male patient diagnosed with HIV positive, with the corresponding configuration of clinical criteria in classification C for AIDS; who developed a primary LB at the oral cavity level that was accompanied by hepatosplenomegaly. The authors pretended to describe the relation and behavior of this kind of lymphoma with hepatosplenomegaly, and also the repercussion at the stomatognathic level, at the systemic level and the treatment plan. Due to the clinical and immunological characteristics of the studied patient a reserved prognosis was given because of presenting infrequent clinical characteristics in which a Burkitt was observed both, at the stomatognathic and at the abdominal level. It was necessary to make an opportune and accurate diagnosis to begin the treatment on time (AU).

Liver disease in children and adolescents with type 1 diabetes mellitus: A link between glycemic control and hepatopathy.

AIM: The aim of this study was to assess the prevalence of liver disease in children and adolescents with type-1 diabetes mellitus (T1DM) by detection of elevated liver transaminases, confirmed by fibroscan and ultrasound. The secondary objective was to assess the effect of glycemic control on improvement of liver functions. METHODS: One hundred and seven children and adolescents with T1DM were investigated by liver transaminases, mean HbA1c and pelviabdominal ultrasound while fibroscan was done for those with elevated liver transaminases only. Patients with elevated liver enzymes were reassessed after one year. RESULTS: Only nine (8.4%) of the studied patients have exhibited liver dysfunction in the form of elevated liver transaminases with median ALT 140 U/L and AST 191 U/L and hepatomegaly by ultrasound; The HbA1c (median = 10.8%) and fibroscan abnormalities (median fibrosis score 1) were significantly higher in patients with elevated liver transaminases (p < 0.001). Adequate glycemic control resulted in a significant decrease in liver transaminases (median ALT = 25 U/L and AST = 29 U/L), fibroscan fibrosis score (median = 0) and HbA1c (median = 9%) (p = 0.003), (p = 0.01) and (p = 0.003) respectively. CONCLUSION: Adequate glycemic control was associated with improvement of liver disease in children and adolescents with diabetes.

Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.

Objectives To investigate the clinical and genetic characteristics of children with glycogen storage disease type IIIa (GSD IIIa) and to explore the muscle involvement and manifestations of GSD IIIa patients. Methods The clinical data of 11 patients with GSD IIIa diagnosed by genetic testing from 2003 to 2019 were retrospectively analyzed. Results Twenty variants of AGL gene were detected in 11 patients, eight of which were novel variants. Before treatment, the height was significantly backward. All patients had hepatomegaly. Abnormal biochemical indicators were mainly manifested as significantly increased serum liver and muscle enzymes, accompanied by hypertriglyceridemia, hypoglycemia, hyperlactacidemia, slightly elevated pyruvic acid, and metabolic acidosis. After treatment, the height and liver size of the patients were significantly improved. At the same time, alanine aminotransferase (ALT), aspartate aminotransferase (AST), triglyceride (TG), lactic acid and pyruvic acid in children were significantly decreased, while creatine kinase (CK) was significantly increased. During follow-up monitoring, six patients developed ventricular hypertrophy. Lactate dehydrogenase (LDH) (691.67 ± 545.27 vs. 362.20 ± 98.66), lactic acid (3.18 ± 3.05 vs. 1.10 ± 0.40), and pyruvic acid (64.30 ± 39.69 vs. 32.06 ± 4.61) were significantly increased in patients with ventricular hypertrophy compared with those without ventricular hypertrophy. Conclusions In clinical cases of upper respiratory tract infection or gastrointestinal symptoms accompanied by hypoglycemia, dyslipidemia, metabolites disorders, elevated serum liver, and muscle enzymes, the possibility of GSD IIIa should be vigilant. During treatment monitoring, if lactic acid, pyruvic acid, LDH, and CK rise, it indicates that the disease is not well controlled and there is the possibility of cardiac hypertrophy.

[Hepatic glycogenosis: a case report]. / Glucogenosis hepá tica: a propósito de un caso.

The glycogen storage diseases contain a range of diseases that are characterized by the abnormal storage or utilization of glycogen, the organs most affected being muscle and / or liver. Hepatomegaly may be a clinical sign that could guide to the diagnosis. We describe a 15-year-old patient with hepatomegaly, hypertransaminasemia and growth retardation. He was diagnosed with a glycogen storage disease by liver biopsy.

Cystic fibrosis-associated liver disease in children.

As improvements in nutritional and pulmonary care increase the life expectancy of cystic fibrosis (CF) patients, CF-associated liver disease (CFLD) is emerging as a cause of mortality. CFLD is the third leading cause of death in CF patients. We performed a search on PubMed and Google Scholar for published articles on CFLD. We reviewed the articles found in the literature search and gave priority to recent publications and studies with larger sample sizes. The prevalence of CFLD in the CF population is around 23% with a range of 2-62% and that prevalence increases linearly with age from 3.7% at age 5 to 32.2% at age 30. CFLD can present clinically in various ways such as hepatomegaly, variceal hemorrhage, persistent elevation of liver enzymes, and micro-gallbladder. Due to the focal nature of fibrosis in majority cases of CFLD, liver biopsies are sparsely performed for diagnosis or the marker of liver fibrosis. Although the mechanism of CFLD development is still unknown, many potential factors are reported. Some mutations of CFTR such as having a homozygous F508del mutation has been reported to increase the risk of developing CFLD and its severity. Having the SERPINA1 Z allele, a history of pancreatic insufficiency, a history meconium ileus, CF-related diabetes, or being male increases the risk of developing CFLD. Environmental factors do not appear to have significant effect on modulating CFLD development. Ursodeoxycholic acid is commonly used to treat or prevent CFLD, but the efficacy of this treatment is questionable.

Association between Different Polymorphic Markers and ß-Thalassemia Intermedia in Central Iran.

ß-Thalassemia intermedia (ß-TI) is a clinical condition characterized by moderate, non transfusional anemia and hepatosplenomegaly. The main objective of this study was to determine the molecular basis of the clinical phenotype of ß-TI in Iran. To elucidate the mild phenotype of many patients with ß-TI, we screened for three prevalent ß-globin gene mutations [IVS-II-1 (G>A) HBB: c.315+1G>A, IVS-I-110 (G>A) HBB: c.93-21G>A and IVS-I-5 (G>C) [HBB: c.92+5G>C], deletions on the α-globin genes, XmnI polymorphisms and restriction fragment length polymorphism (RFLP) haplotypes on the ß-globin gene cluster in 50 ß-TI patients. Fifty-eight percent of the patients (29 cases) were associated with the mentioned mutations. We showed that the HBB: c.315+1G>A mutation is linked to haplotype [+ - + +] (57.69%). This haplotype is in linkage disequilibrium with the XmnI polymorphism (NG_000007.3: g.42677C>T) and has been associated with increased expression of Hb F in ß-TI patients. The XmnI polymorphism is defined in association with this prevalent mutation. Two patients had a single α-globin gene deletion [-α3.7 (rightward) deletion]. The main genetic factor in mild phenotype ß-TI patients is the linkage of an XmnI polymorphism (NG_000007.3: g.42677C>T) with the HBB: c.315+1G>A (80.76%), which is associated with increased production of Hb F and coinheritance of haplotype [+ - + +] with ß-TI, especially with the homozygous HBB: c.315+1G>A mutation. Molecular basis of ß-TI could be explained by the involvement of different factors that tend to develop the disease phenotype.