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Esophageal varices are life-threatening complications in which the enlargement of the esophageal veins causes bleeding and reduces blood flow to the esophagus. They are complications caused by portal hypertension, renal failure, hepatic dysfunction, and infection. The leading cause of esophageal varices is cirrhosis, as patients with this disease are more susceptible to forming esophageal varices. Bleeding episodes occur due to the rupture of the blood vessels. We present the case of a 45-year-old male patient in the hospital with a history of chronic alcohol use and clinical symptoms of hematemesis, a distended abdomen, and melena. The patient experienced mild symptoms of giddiness and dizziness after undergoing various radiological investigations, laboratory tests, ultrasonography (USG), and CT scans. USG diagnosed portal hypertension, gross ascites, pleural effusion, and hepatosplenomegaly. A CT scan diagnosed the patient with esophageal varices and testicular carcinoma. Laboratory tests diagnosed anemia. The treatment plan included oral and intravenous iron supplements, blood transfusions, vitamin B12, folate supplements, and nonselective beta-blockers to manage portal hypertension and reduce variceal bleeding risk. During acute bleeding episodes, vasoconstrictors and endoscopic band ligation were employed. Regular endoscopies and hepatic venous catheterization were conducted to monitor and manage the condition. Follow-up included regular assessments of hemoglobin levels, iron status, liver function tests, and periodic endoscopies. The patient's adherence to beta-blockers was closely monitored. Esophageal varices, often resulting from portal hypertension because of cirrhosis, require early diagnosis and a combination of pharmacological and endoscopic treatments to prevent complications. Advances in treatment have reduced mortality rates, but effective management of portal hypertension and liver dysfunction remains crucial.
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Juvenile xanthogranuloma (JXG) is primarily limited to the skin, and systemic JXG (sJXG) is rarely reported. Reports of sJXG patients with hemophagocytic lymphohistiocytosis (HLH) are particularly rare. Herein, we conducted a retrospective study of children diagnosed with sJXG in the Hematology Centre of Beijing Children's Hospital from Jan. 2016 to Dec. 2021. The clinical features, laboratory parameters, treatments and outcomes of 17 sJXG patients were investigated, including five complicated with HLH. All sJXG-HLH patients had intermittent fever, rash, hepatosplenomegaly, cytopenia and high levels of soluble CD25, but interferon-γ was almost normal. Patients with sJXG-HLH had a younger diagnosis age (P = 0.035) and were more likely to have skin, liver, and spleen involvement than those without HLH (P = 0.029, P = 0.003, P = 0.003, respectively). Corticosteroids and/or ruxolitinib could be used to control the hyperinflammatory status when HLH was diagnosed. The treatment of sJXG varied, including Langerhans cell histiocytosis (LCH)-based chemotherapy and targeted therapy. The overall response rate of sJXG for first-line and second-line chemotherapy was 50.0% (5/10) and 50% (4/8), respectively. Patients with BRAF V600E mutation showed a response to dabrafenib. There was no significant difference in the overall survival and progression-free survival between sJXG patients without and with HLH (P = 0.12 and P = 0.46, respectively). Therefore, LCH-based chemotherapy could serve as an effective treatment for sJXG patients, and dabrafenib, to some extent, showed efficacy in controlling sJXG in patients with BRAF V600E mutation. The prognosis of sJXG-HLH patients seemed to be comparable to patients without HLH.
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Congenital syphilis (CS) is a vertically transmitted infection caused by the spirochete Treponema pallidum. It is seen rarely due to proper antenatal screening. Signs and symptoms appear within the first 2 years of life in early CS and after 2 years in late CS. Failure to diagnose and treat CS in its early stages can result in higher morbidity and mortality. Skin manifestations can guide toward the diagnosis of CS at an early stage. Here, we report a 2-day-old neonate who presented with acral peeling of skin along with respiratory distress and hepatosplenomegaly. Clinical suspicion of CS was made and subsequently confirmed by a positive venereal disease research laboratory test in both mother and child. The child was treated with aqueous crystalline penicillin G as per the CDC guidelines.
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Schistosomiasis is an ancient disease still affecting more than 200 million people worldwide; calcified Schistosome eggs were discovered in Egyptian mummies (1200-900 BC). A 25-year-old man presented to the emergency department with heartburn. He immigrated to the United States from Sub-Saharan Africa. His physical exam revealed hepatosplenomegaly, and he was eventually diagnosed with Schistosomiasis.
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Background: Systemic Lupus Erythematosus (SLE) is an autoimmune disease with unknown etiology resulting in chronic multi-organ inflammation. Juvenile Systemic Lupus Erythematosus (JSLE) is a specific diagnosis of SLE in juvenile, characterized by oral ulceration. Purpose: This case report attempts to provide information for oral medicine specialists in managing JSLE patients with hepatosplenomegaly. Case Presentation: A 17-year-old female patient was referred from the Pediatrics Department with mouth ulcers accompanied by dry lips and a tendency to bleed. The most concerning lesion was located on the left buccal mucosa, a single ulceration measuring 5x6mm. Multiple ulcerations spread over the upper and lower labial mucosa, with haemorrhagic crusts on the lips. Painful ulceration can lead to difficulties in mouth opening and impaired function in eating and drinking. Central erythema was seen on the palate. Pseudomembranous candidiasis was also seen on the patient's tongue. The hepatosplenomegaly was confirmed by CT scan, with enzyme values of SGPT (386 U/L) and SGOT (504 U/L). Case Management: Administration of 0.9% NaCl was instructed to the patient to maintain oral hygiene and help moisturize lips in order to remove haemorrhagic crusts. Administration of 0.025% hyaluronic acid mouthwash and topical steroid ointment mixture for ulcerated and inflammatory conditions. Drug adjustments were made based on laboratory tests and the patient's clinical condition was improving. Conclusion: Managing oral symptoms helps reduce morbidity in JSLE patients. Topical corticosteroids are considered the first line in controlling oral inflammation. Dentists play a role in improving patients' oral hygiene with the aim of reducing the risk of other opportunistic infections.
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Niemann-Pick disease is a rare lysosomal storage, autosomal recessive disorder that impairs the body's ability to metabolize fats, thus leading to accumulation within cells. It can affect various organs, most commonly the brain, liver, spleen, bone marrow and lungs. Hepatosplenomegaly, inability to thrive and varying neurological deficits are the defining features. The three main types of Niemann-Pick disease are: NPD-A (Niemann-Pick disease type A), NPD-B (Niemann-Pick disease type B) and NPD-C (Niemann-Pick disease type C). NPD-A and NPD-B are due to enzyme acid sphingomyelinase deficiency, caused by SMPD-1 (Sphingomyelin phosphodiesterase 1) gene mutation and NPD-C is due to NPC-1 and NPC-2 (Niemann-Pick C1 and C2 protein) gene mutation. This is the case report of an 11-month-old infant who presented to OPD (Outpatient Department) with failure to thrive, abdominal distension and developmental delay. On examination the infant was emaciated, pale, had hepatosplenomegaly and developmental delay. Bone marrow and liver biopsy showed characteristic lipid-laden foamy macrophages. Thus detailed history, examination and investigations confirmed NPD-A. NPD-A has a poor prognosis and is usually fatal by three years of age. The patient was provided supportive treatment like nutritional therapy and physiotherapy, and parents were counselled regarding the disease outcome. The patient is regularly followed up, and two episodes of chest infections were reported during an 8-month period of follow-up.
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Acute lymphoblastic leukemia (ALL) is the most prevalent pediatric malignancy, accounting for approximately 25% of childhood cancers. Despite significant advancements in treatment protocols, ALL remains a complex disease, often presenting with various complications, including the rare metabolic disturbance of type B lactic acidosis. This case report details the clinical journey of a 14-year-old female with ALL who developed type B lactic acidosis during treatment. The patient presented with intermittent fever, abdominal pain, jaundice, and hepatosplenomegaly, accompanied by severe anemia and thrombocytopenia. Initial management included supportive care and chemotherapy initiation. Despite aggressive interventions, the patient's condition deteriorated, with escalating lactic acidosis and respiratory distress, leading to a critical need for tailored management strategies. This report underscores the importance of early recognition and comprehensive management of type B lactic acidosis in pediatric ALL, highlighting its multifactorial etiology and potentially life-threatening consequences. Enhanced clinical awareness and a multidisciplinary approach are crucial for improving outcomes in such complex cases.
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Deficiency of adenosine deaminase 2 is a rare monogenic multi-organ disease of children and less often adults resulting from mutations in the adenosine deaminase 2 gene. We present a case of a 35-year-old Palestinian male with adenosine deaminase 2 deficiency and maturity-onset diabetes of the young type 2. The patient initially presented with complaints of swelling in his neck and night sweats, leading to a diagnosis of Hodgkin lymphoma. Subsequent evaluation revealed a recurrence of Hodgkin lymphoma, along with symptoms of otitis media, upper respiratory tract infection, and a rash around the mouth. Genetic testing confirmed mutations in the adenosine deaminase 2 gene and glucokinase genes, confirming the diagnosis of deficiency of adenosine deaminase 2 and maturity-onset diabetes of the young type 2, respectively. The patient was treated with Intravenous immunoglobulin, antiviral drugs, and oral hypoglycemic drugs, showing improvement in symptoms and laboratory tests. This case highlights the importance of considering rare genetic disorders in patients with unusual or refractory clinical manifestations, and the need for a multidisciplinary approach in such cases.
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The megakaryocyte and platelet inhibitory receptor gene G6P (MPIG6B) is located on chromosome 6p21.33. It encodes G6b-B; an inhibitory receptor expressed on the surface of platelets. It regulates platelets production, aggregation, and activation. We describe a case of a 31-year-old man who presented with a long history of thrombocytopenia, anemia, and hepatosplenomegaly. The patient received multiple blood transfusions and his clinical course was stable. A bone marrow biopsy showed morphologic features similar to primary myelofibrosis. Whole exome sequencing study was performed and revealed homozygous pathogenic mutation in exon 2 of MPIG6B gene (c.324C > A, p.Cys108Ter) that is the second reported case in literature. In this report, we describe the main clinical and pathologic features of this disease and review the literature of previously documented cases.
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Gaucher's disease is a rare autosomal recessive inborn error of metabolism. As the presentation of this disease is similar to more common diseases like malaria, portal hypertension, hematological disorders, and kala-azar, this rare disease may not be thought of as a differential diagnosis, and a high index of suspicion is required to avoid diagnostic delay. We report a case of type 1 Gaucher's disease in an adult male born out of a consanguineous marriage. He was from a region where the prevalence of infectious diseases and sickle cell anemia is high. He presented with abdominal distension, hepatosplenomegaly, and pancytopenia. Bone marrow biopsy showed the presence of Gaucher cells. Glucocerebrosidase levels showed decreased enzyme activity. The genetic study revealed a very rare mutation that has not been reported in the 1000 Genomes database till now. Retrospectively, the most important clue was his birth out of a consanguineous marriage of his parents.
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OBJECTIVES: To summarize the clinical data of 7 children with activated phosphoinositide 3-kinase delta syndrome (APDS) and enhance understanding of the disease. METHODS: A retrospective analysis was conducted on clinical data of 7 APDS children admitted to Hunan Provincial People's Hospital from January 2019 to August 2023. RESULTS: Among the 7 children (4 males, 3 females), the median age of onset was 30 months, and the median age at diagnosis was 101 months. Recurrent respiratory tract infections, hepatosplenomegaly, and multiple lymphadenopathy were observed in all 7 cases. Sepsis was observed in 5 cases, otitis media and multiple caries were observed in 3 cases, and diarrhea and joint pain were observed in 2 cases. Lymphoma and systemic lupus erythematosus were observed in 1 case each. Fiberoptic bronchoscopy was performed in 4 cases, revealing scattered nodular protrusions in the bronchial lumen. The most common respiratory pathogen was Streptococcus pneumoniae (4 cases). Six patients had a p.E1021K missense mutation, and one had a p.434-475del splice site mutation. CONCLUSIONS: p.E1021K is the most common mutation site in APDS children. Children who present with one or more of the following symptoms: recurrent respiratory tract infections, hepatosplenomegaly, multiple lymphadenopathy, otitis media, and caries, and exhibit scattered nodular protrusions on fiberoptic bronchoscopy, should be vigilant for APDS. Citation:Chinese Journal of Contemporary Pediatrics, 2024, 26(5): 499-505.
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Classe I de Fosfatidilinositol 3-Quinases , Humanos , Feminino , Masculino , Pré-Escolar , Criança , Classe I de Fosfatidilinositol 3-Quinases/genética , Estudos Retrospectivos , Infecções Respiratórias , Mutação , Doenças da Imunodeficiência Primária/genética , LactenteRESUMO
Background/Objectives: Gaucher disease type 1 (GD1) is characterized by hepatosplenomegaly, thrombocytopenia, and disabling bone manifestations requiring regular MRI monitoring. The EIROS study assessed the real-world impact of velaglucerase alfa on GD1 bone disease, using MRI data collected in French clinical practice. Methods: MRIs collected retrospectively from treatment initiation and prospectively during follow-up (12-months) were analyzed centrally by a blinded expert radiologist to evaluate bone infiltration using the Bone Marrow Burden (BMB) score and a qualitative method (stable, improved or worsened for the spine and femur). Abdominal MRIs were also centrally analyzed to assess hepatosplenomegaly. Bone manifestations, hepatosplenomegaly, and hematologic parameters were analyzed from medical records. Results: MRI data were available for 20 patients: 6 treatment-naive patients and 14 patients who switched to velaglucerase alfa from another GD treatment. Interpretable MRIs for BMB scoring were available for seven patients for the spine and one patient for the femur. Qualitative assessments (n = 18) revealed stability in spine and femur infiltration in 100.0% and 84.6% of treatment-switched patients (n = 13), respectively, and improvements in 80.0% and 60.0% of treatment-naive patients (n = 5), respectively; no worsening of bone infiltration was observed. Liver, spleen, and hematologic parameters improved in treatment-naive patients and remained stable in treatment-switched patients. Conclusions: The qualitative real-world data support findings from clinical trials suggesting the long-term effectiveness of velaglucerase alfa on GD1 bone manifestations. When MRI assessment by radiologists with experience of GD is not possible, a simplified qualitative assessment may be sufficient in clinical practice for monitoring bone disease progression and treatment response.
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Hypobicarbonatemia with an elevated anion gap on a metabolic panel is frequently the initial marker of a life-threatening condition such as diabetic ketoacidosis in a patient with epigastric pain. The two commonly used means of measuring bicarbonate levels are direct measurement from a metabolic panel and calculated measurement from arterial blood gas. In this case report, we would like to highlight a potentially serious deficiency in one of these two means and how it may lead to a dangerous misdiagnosis and subsequent mismanagement. We also shine a light on potential measures to counteract or prevent this undesirable outcome.
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Niemann-Pick disease (NPD) encompasses a minimum of three lysosomal storage diseases, all of which are inherited in an autosomal recessive manner. Acid sphingomyelinase (ASM) deficiency is the cause of NPD types A and B. ASM is the enzyme that hydrolyzes the sphingolipid sphingomyelin. An 18-month-old patient with progressive painless abdominal distension with organomegaly and neurological deficits presented to our hospital. Brain imaging and laboratory findings did not show anything, but there was a millstone growth delay. The diagnosis of NPD type A was confirmed by a genetic examination, which revealed a twofold change on chromosome 11p15.4 in the region encoding the sphingomyelin phosphodiesterase-1 (SMPD1) gene. The patient was followed up with no specific treatment, and signs of respiratory infections were later reported.
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Congenital syphilis, caused by the Gram-negative obligate bacterium Treponema pallidum, can manifest as early- or late-onset infection, typically exhibiting classic symptoms such as a maculopapular rash, failure to thrive, and hepatosplenomegaly. This case report presents rare clinical manifestations of congenital syphilis not typically observed during early onset infection in a newborn in Bahrain. Additionally, it details the physical findings and investigations conducted to diagnose the disease.
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Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that includes metabolic, congestive, neoplastic, infectious, toxic, and inflammatory conditions. Among the metabolic diseases, lysosomal storage diseases (LSDs) are a group of rare and ultrarare conditions with a collective incidence of 1 in 5000 live births. LSDs are caused by genetic variants affecting the lysosomal enzymes, transporters, or integral membrane proteins. As a result, abnormal metabolites accumulate in the organelle, leading to dysfunction. Therapeutic advances, including early diagnosis and disease-targeted management, have improved the life expectancy and quality of life of people affected by certain LSDs. To access these new interventions, LSDs must be considered in patients presenting with hepatomegaly and splenomegaly throughout the lifespan. This review article navigates the diagnostic approach for individuals with hepatosplenomegaly particularly focusing on LSDs. We provide hints in the history, physical exam, laboratories, and imaging that may identify LSDs. Additionally, we discuss molecular testing, arguably the preferred confirmatory test (over biopsy), accompanied by enzymatic testing when feasible.
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Background: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital. Objectives: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children. Design: Retrospective observational study. Methodology: All patients diagnosed with HT1 at Shifa International Hospital, Islamabad and Pak Emirates Military Hospital, Rawalpindi between 2010 and 2023 were included. Information was collected regarding age, gender, symptoms, physical signs, and laboratory results. Results: The study identified 6 cases of HT1. The average age at presentation was 8 months, with a mean delay in diagnosis of 26.8 months. Males were 4 (66.7%) and 2 (33.3%) were females. All patients had underlying liver disease presenting as abdominal distension with hepatosplenomegaly and accompanying growth failure. Four cases presented with rickets, 2 of which had hypophosphatemic rickets. Urine for succinylacetone was raised in all patients. Alpha fetoprotein was raised but hepatocellular carcinoma was diagnosed in 1 patient only. Low protein diet, and vitamin supplements were used for management. Five of the 6 patients died within 2 years of diagnosis. Conclusion: Delayed referrals and unavailability of Nitisinone are the major challenges in diagnosing and treating HT1 in Pakistan.
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Cytomegalovirus (CMV), a member of the Herpesviridae family, typically causes asymptomatic infections or mild mononucleosis-like syndromes in immunocompetent individuals. However, severe manifestations are well-documented in immunocompromised populations. This case report presents a previously healthy seven-year-old girl with a rare and complex presentation of primary CMV infection leading to severe multiorgan involvement, hepatosplenomegaly, cholestasis, bicytopenia, and a prolonged disease course. The patient's condition prompted an exhaustive diagnostic investigation, ruling out other potential causes. The diagnosis was confirmed by positive CMV IgM and IgG antibodies and a significantly elevated CMV DNA viral load. Treatment with intravenous ganciclovir resulted in a remarkable recovery. The case underscores the importance of considering CMV as a potential etiology of hepatitis, even in immunocompetent children, and the challenges of diagnosing complicated CMV infections. While guidelines for treating CMV in immunocompetent individuals are lacking, this report suggests that antiviral therapy may be beneficial in severe cases. Further research is needed to establish clear treatment protocols for such instances. This report contributes to the limited body of literature on severe CMV-induced hepatitis in immunocompetent children, emphasizing the need for heightened clinical awareness and timely interventions to prevent progression to acute liver failure.
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Gaucher disease (GD) is a recessive autosomal lysosomal storage disorder caused by a deficiency in glucocerebrosidase, leading to the accumulation of undigested glycolipids in the lysosomes of monocytes and macrophages. Patients with GD exhibit a spectrum of phenotypic heterogeneity and are broadly classified into three subtypes. Type 1 is the most common and is not associated with neurological damage, while types 2 and 3 are more severe, presenting with acute neuropathic and subacute neuropathic symptoms, respectively. A thorough accurate initial multisystemic assessment is crucial for evaluating the damage to all potentially affected organs and determining the disease burden. This case report highlights the intricacies of GD type 1 by providing a thorough exploration of the clinical presentation and showcasing valuable insights into the unique manifestations of the disease. The key feature was his individual and family medical history, which allowed the identification and treatment of another case within the community.
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Inborn errors of metabolism (IEMs) are a vast array of inherited/congenital disorders, affecting a wide variety of metabolic pathways and/or biochemical processes inside the cells. Although IEMs are usually rare, they can be represented as serious health problems. During the neonatal period, these inherited defects can give rise to almost all key signs of liver malfunction, including jaundice, coagulopathy, hepato- and splenomegaly, ascites, etc. Since the liver is a vital organ with multiple synthetic, metabolic, and excretory functions, IEM-related hepatic dysfunction could seriously be considered life-threatening. In this context, the identification of those hepatic manifestations and their associated characteristics may promote the differential diagnosis of IEMs immediately after birth, making therapeutic strategies more successful in preventing the occurrence of subsequent events. Among all possible liver defects caused by IEMs, cholestatic jaundice, hepatosplenomegaly, and liver failure have been shown to be manifested more frequently. Therefore, the current study aims to review substantial IEMs that mostly result in the aforementioned hepatic disorders, relying on clinical principles, especially through the first years of life. In this article, a group of uncommon hepatic manifestations linked to IEMs is also discussed in brief.