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Almost 100 years ago, the French physician Pierre Mauriac described a syndrome named after him, resulting from poorly controlled type 1 diabetes, with growth retardation, delayed puberty, Cushingoid features and hepatomegaly. With modern diabetes care, this is very rare but does occur; however, despite the condition having important clinical implications and being easily treatable, this diabetes complication remains relatively unknown. We present here an authentic patient case in the form of a young man with glycemically poorly controlled type 1 diabetes who developed hepatomegaly, hyperlactatemia and histopathological changes in the liver consistent with glycogenosis, a state readily reversed by normalization of glycemia.

This report describes the clinical course of a 41 year-old African woman who presented with an episode of acute alcoholic pancreatitis followed next by severe alcoholic hepatitis (SAH). Initially admitted for pancreatitis, the patient responded promptly to comprehensive treatment with strict abstinence from alcohol. However, remarkable elevations in white blood cell count to 44,000/µL and total bilirubin level to 12.4 mg/dL were observed 5-7 weeks later. Contrast-enhanced computed tomography revealed rapidly progressing hepatosplenomegaly. Histological analysis of a liver biopsy detected ballooned hepatocytes with Mallory-Denk bodies and significant neutrophilic infiltration in the hepatic parenchyma, which confirmed the diagnosis of SAH. The patient's hepatosplenomegaly and overall condition improved with supportive care alone. The reported case reveals the unexpected fact that SAH can develop after alcoholic acute pancreatitis., (© 2024. Japanese Society of Gastroenterology.)

Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm. Investigations demonstrated severe anaemia (5.7 g/dL) and thrombocytopenia (34 x 109/L). Radiological signs which help in the diagnosis include diffuse sclerosis, bone within bone appearance, sandwich vertebrae and Erlenmeyer flask deformity. Plain radiography is an easily available and cost effective tool which can aid in the diagnosis of osteopetrosis.

Typhoid fever (enteric fever), caused by Salmonella enterica subsp. enterica serovar Typhi (S. Typhi), is a public health problem especially in South Asia and sub-Saharan African countries, while incidence remains low in most other parts of the world, where the disease is primary related to recent travel to endemic countries or contact with chronic carriers. The diagnosis of typhoid fever is challenging in endemic countries, often also low- and middle- income countries (LMIC), due to the poor sensitivity/specificity of available serologic tests and lack of adequate infrastructure for blood cultures. We report the case of an 18-year-old male patient with a 21-day history of right-sided abdominal pain, malaise, headache, intermittent fever and watery diarrhea. Contrast-enhanced abdominal computed tomography (CT) exhibits thickening of the terminal ileum, cecum and ascending colon with mesenteric lymphadenopathy. Laboratory findings indicate elevated transaminases, positive blood culture to S. Typhi and a positive Widal test to S. Paratyphi A, B and S. Typhi H (flagellar) antigens. A diagnosis of complicated typhoid fever was made. Following a 13-day regimen of ceftriaxone, all symptoms resolved. Few reports have been made about CT manifestations in patients with typhoid fever. While CT can aid in diagnosis, it is particularly important for identifying complications of typhoid fever such as perforation, bleeding and abscess formation.

Background and Aims: Systemic mastocytosis (SM) is characterized by the accumulation of atypical mast cells (MCs) in organs. Liver histology of SM has been marginally described and accurate histological classification is critical, given the consequences of aggressive SM diagnosis. We aimed to describe the histological features associated with liver SM using updated tools., Methods: Using the database of the French Reference Centre for Mastocytosis, we retrospectively identified patients with a liver biopsy (LB) and a diagnosis of SM. All LB procedures were performed according to the local physician in charge and centrally reviewed by an expert pathologist., Results: A total of 28 patients were included: 6 had indolent SM, 9 had aggressive SM, and 13 had SM with an associated hematologic neoplasm. Twenty-five (89%) patients presented hepatomegaly, and 19 (68%) had portal hypertension. The LB frequently showed slight sinusoid dilatation (82%). Fibrosis was observed in 3/6 indolent SM and in almost all advanced SM cases (21/22), but none of them showed cirrhosis. A high MC burden (>50 MCs/high-power field) was correlated with elevated blood alkaline phosphatase levels (p = .030). The presence of portal hypertension was associated with a higher mean fibrosis grade (1.6 vs. 0.8 in its absence; p = .026). In advanced SM, the presence of nodular regenerative hyperplasia (NRH) was associated with decreased overall survival (9.5 vs. 46.3 months, p = .002)., Conclusions: MC infiltration induced polymorphic hepatic lesions and the degree of fibrosis is associated with portal hypertension. NRH identifies a poor prognosis subgroup of patients with advanced SM. Assessing liver histology can aid in SM prognostic evaluation., (© 2024 The Authors. Liver International published by John Wiley & Sons Ltd.)

Introduction: Polycystic liver disease and giant hepatic hemangioma may present with severe symptom burden and indicate orthotopic liver transplantation. The left-to-right piggyback approach is a useful technique for performing total hepatectomy of enlarged livers., Objective: The purpose of this study is to analyze the results of liver transplantation in patients with benign massive hepatomegaly., Methods: This is a single-center retrospective study involving all adult patients who underwent liver transplantation due to benign massive hepatomegaly from January 2002 to June 2023., Results: A total of 22 patients underwent liver transplantation (21 cases of polycystic live disease and 1 case of giant hepatic hemangioma). During the same time, there were 2075 transplants; therefore, benign massive hepatomegaly accounted for 1.06% of cases. Most patients (59.09%) were transplanted using the left-to-right piggyback technique. Seven patients had previous attempted treatment of hepatic cysts. Another patient previously underwent bilateral nephrectomy and living-donor kidney transplantation. Among these patients, in 5 cases there were massive abdominal adhesions with increased bleeding. Four of these 8 patients died in the very early perioperative period. In comparison to patients without previous cysts manipulation, massive adhesions and perioperative death were significantly higher in those cases (62.5 vs 0%, P = .002 and 50% vs 0%, P = .004, respectively)., Conclusion: Liver transplantation due to polycystic liver disease and giant hemangioma is a rare event. Total hepatectomy is challenging due to the enlarged native liver. The left-to-right piggyback technique is useful, because it avoids vena cava twisting and avulsion of its branches. Massive adhesions due to previous cysts manipulation may lead to increased bleeding, being a risk factor for mortality., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Abstract: Hemophagocytic lymphohistiocytosis (HLH) is a severe and frequently underdiagnosed disorder of systemic immune dysregulation resulting in hypercytokinemia and histologically evident hemophagocytosis, We report a case of a 34-year-old man who presented with breathlessness, generalized weakness, and fever of unknown origin with pancytopenia. Clinically the patient was admitted for febrile illness, and treated symptomatically but his general condition worsened leading to death within 21 hours of admission. A complete autopsy was performed. The deceased had a significant past history of repeated episodes of fever, weight loss, and axillary lymphadenopathy over a period of 8 months with multiple hospital admissions. He was also diagnosed with enteric fever (Widal test and Typhi IgM positive) at the start of these episodes. Hemogram during this period revealed persistent pancytopenia. Serum ferritin, serum triglycerides, and liver function tests were consistently deranged. Investigations for the etiology of fever and blood cultures were negative while the bone marrow aspirate revealed a normocellular marrow. CT abdomen-pelvis showed mild hepatomegaly with enlarged retroperitoneal lymph nodes. Infective endocarditis, lymphoma, and bronchopneumonia were being considered the clinical diagnoses. The significant autopsy findings were hepatosplenomegaly with retroperitoneal lymphadenopathy and multiple gastric ulcers. On microscopy, the liver, spleen, bone marrow, and lymph nodes showed characteristic hemophagocytosis. Post-mortem histopathological examination clinched the diagnosis of HLH and fulfilled six out of eight diagnostic criteria of the HLH-2004 protocol. We discuss the clinical course and diagnosis of this unique case and strive to create awareness about secondary HLH induced by common diseases, such as enteric fever., (Copyright © 2023 Copyright: © 2023 Indian Journal of Pathology and Microbiology.)

Hepatomegaly is an extramedullary disease (EMD) manifestation of hematological malignancy. Although EMD before allogeneic hematopoietic stem cell transplantation (allo-HCT) is a risk factor for relapse in patients not in complete remission (NonCR) patients, the significance of hepatomegaly to allo-HCT is unclear. We conducted a single-center retrospective observational study of 140 patients with acute leukemia and myelodysplastic syndrome who underwent allo-HCT at our institution from 2014 to 2019. Hepatomegaly was assessed by ultrasonography using the liver index (LI). In the univariable analysis, the LI/height ratio was significantly associated with relapse (hazard ratio [HR] per standard deviation [sd]: 1.51, 95% confidence interval [CI] 1.18-1.93, p = 0.001, sd = 13.8) in NonCR patients (n = 62), but showed no significant association in CR patients (n = 78) (HR per sd: 0.95, 95% CI 0.64-1.39, p = 0.780, sd = 8.7). In multivariable analysis, the LI/height ratio was significantly associated with relapse (HR per sd: 1.34, 95% CI 1.02-1.78, p = 0.037) after adjusting for the refined disease risk index and conditioning intensity. Interaction analysis showed a noteworthy but not statistically significant association between the LI/height ratio and CR status (p = 0.110). In conclusion, our findings suggest that the LI may be a risk factor for relapse in NonCR patients after allo-HCT., (© 2024. Japanese Society of Hematology.)

A 78-year-old woman with hypertrophic cardiomyopathy underwent a septal myomectomy and valve replacement. In the immediate postoperative period she developed shock of mixed etiology and died. At autopsy, hepatomegaly and splenomegaly were identified, with PAS and Giemsa positive intracellular ceroid granular deposits. Sea-blue histiocytosis is an extremely rare, chronic and benign deposit disease. It is characterized by hepatosplenomegaly, thrombocytopenia and lymphadenopathy. The presence of ceroid substance in granules in PAS and Giemsa stains should establish the diagnosis of suspicion., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

The Pierre Mauriac syndrome described in the year 1930, is characterized by growth failure, cushingoid appearance, hepatomegaly and hypertransaminasemia, in a patient with chronic uncontrolled DM1. The most common age of presentation is usually in adolescence, although cases have been described in both children and adults. The hallmark of this syndrome is extreme liver enlargement from massive acucumulation of glycogen. The diagnosis of hepatopathy requires high clinical suspicion and the presence of glycogen accumulation must be corroborated with a liver biopsy. The accumulation of glycogen in hepatocytes is partly caused by long periods of hyperglycemia, in which glucose enters the hepatocyte independently of insulin and is converted to glycogen. Mauriac syndrome is currently a rare cause of liver disease, due to improvements in control and treatment of patients with DM1. However, some cases are described in people with complicated social situations or without therapeutic compliance. This is a reversible condition after improvement in glycemic control with adequate insulinization. For this reason, we believe it convenient to suspect this clinical picture in patients with poor glycemic control and symptoms of pain and abdominal distension.

Introduction: The aim of this study was to evaluate the patients with high liver function test results detected at admission to the hospital diagnosed with COVID-19., Methodology: Patients diagnosed with COVID-19 by a nasopharyngeal RT-PCR (+) test in the emergency department were included in the study. CRP, liver function tests, and abdominal ultrasonography (US) findings of the patients were recorded., Results: A total of 367 COVID-19 patients, 254 (69.2%) males and 113 (30.8%) females, with a mean age of 60.39 (16.81) years, were included in the study. It was seen that 236 (68.7%) patients were treated without complications, 131 (35.7%) patients needed intensive care, and 81 (22.1%) patients died. The frequency of hepatomegaly was significantly higher in patients with severe course and mortality (p < 0.001). When COVID-19 patients who developed mortality were compared with other patients with a diagnosis of COVID-19, no additional risk factors affecting mortality were detected, except LDH [OR: 1.009, (1.006-1.012); p < 0.001] and high CK [OR: 1.001 CI: 95%, (1.000-1.001); p = 0.032]., Conclusions: Patients who need to be hospitalized with COVID-19 and who do not have acute and/or chronic liver disease, elevated liver function test results, and an increase in liver sizes at presentation, it was seen that these did not have an effect on the clinical outcome. However, in addition to the presence of advanced age and comorbidity, the presence of hepatomegaly measured by CT at admission, and high LDH and CK levels were associated with poor clinical outcomes., Competing Interests: No Conflict of Interest is declared, (Copyright (c) 2023 Pınar Yürük Atasoy, Engin Beydoğan.)

Hepatic involvement in sarcoidosis, though common, is usually asymptomatic. Hepatomegaly and deranged liver function tests are the usual manifestations. However, unexplained hepatomegaly in sarcoidosis not responding to immunosuppressive therapy could indicate an alternative pathology. Haemophagocytic lymphohistiocytosis (HLH), although seldom reported in sarcoidosis, can cause hepatosplenomegaly and cytopenias. HLH occurring concomitantly with hepatic sarcoidosis is extremely rare. We report a patient of systemic sarcoidosis who presented with fever, hepatosplenomegaly and jaundice despite being on steroid therapy. He was subsequently diagnosed with HLH. The clinical response to treatment with pulse steroid and oral cyclosporine was dramatic.

Competing Interests: The authors declare that they have no conflict of interest

Background and Aims: Lysosomal acid lipase deficiency (LAL-D) is a rare, autosomal recessive disease involving lysosomal accumulation of cholesteryl esters and triglycerides. The International Lysosomal Acid Lipase Deficiency Registry (NCT01633489), established in 2013 to understand LAL-D natural history and long-term outcomes, is accessible to centres caring for patients diagnosed by deficient LAL activity and/or biallelic pathogenic LIPA variants. We describe the registry population enrolled through 2 May 2022., Methods: In this prospective observational study, we analysed demographic and baseline clinical characteristics of children (ages ≥6 months to <18 years) and adults diagnosed with LAL-D., Results: Of 228 patients with confirmed disease, 61% were children; 202/220 (92%) with data on race were white. Median age was 5.5 years at sign/symptom onset and 10.5 years at diagnosis; median time from sign/symptom onset to diagnostic testing was 3.3 years. The most common manifestations raising suspicion of disease were elevated alanine (70%) and aspartate aminotransferase levels (67%) and hepatomegaly (63%). Among 157 with reported LIPA mutations, 70 were homozygous and 45 were compound heterozygous for the common exon 8 splice junction pathogenic variant (E8SJM-1). Seventy percent (159/228) of patients had dyslipidaemia. Among 118 with liver biopsies, 63% had microvesicular steatosis exclusively, 23% had mixed micro- and macrovesicular steatosis and 47% had lobular inflammation. Of 78 patients with fibrosis-stage data, 37% had bridging fibrosis and 14% had cirrhosis., Conclusions: Although LAL-D signs/symptoms occur early, diagnosis is often delayed. Abnormal transaminase levels associated with hepatomegaly and dyslipidaemia should raise suspicion and prompt earlier diagnosis of LAL-D., Trial Registration Number: NCT01633489., (© 2023 The Authors. Liver International published by John Wiley & Sons Ltd.)

Background: Post-hepatectomy liver failure (PHLF) is the Achilles' heel of hepatic resection for colorectal liver metastases. The most commonly used procedure to generate hypertrophy of the functional liver remnant (FLR) is portal vein embolization (PVE), which does not always lead to successful hypertrophy. Associating liver partition and portal vein ligation for staged hepatectomy (ALPPS) has been proposed to overcome the limitations of PVE. Liver venous deprivation (LVD), a technique that includes simultaneous portal and hepatic vein embolization, has also been proposed as an alternative to ALPPS. The present study aimed to conduct a systematic review as the first network meta-analysis to compare the efficacy, effectiveness, and safety of the three regenerative techniques., Data Sources: A systematic search for literature was conducted using the electronic databases Embase, PubMed (MEDLINE), Google Scholar and Cochrane., Results: The time to operation was significantly shorter in the ALPPS cohort than in the PVE and LVD cohorts by 27 and 22 days, respectively. Intraoperative parameters of blood loss and the Pringle maneuver demonstrated non-significant differences between the PVE and LVD cohorts. There was evidence of a significantly higher FLR hypertrophy rate in the ALPPS cohort when compared to the PVE cohort, but non-significant differences were observed when compared to the LVD cohort. Notably, the LVD cohort demonstrated a significantly better FLR/body weight (BW) ratio compared to both the ALPPS and PVE cohorts. Both the PVE and LVD cohorts demonstrated significantly lower major morbidity rates compared to the ALPPS cohort. The LVD cohort also demonstrated a significantly lower 90-day mortality rate compared to both the PVE and ALPPS cohorts., Conclusions: LVD in adequately selected patients may induce adequate and profound FLR hypertrophy before major hepatectomy. Present evidence demonstrated significantly lower major morbidity and mortality rates in the LVD cohort than in the ALPPS and PVE cohorts., (Copyright © 2022. Published by Elsevier B.V.)

Background: Haemophagocytic lymphohistiocytosis (HLH) is an uncommon systemic inflammatory syndrome that can happen secondary to numerous conditions. It rarely occurs due to dengue infection causing significant mortality and morbidity even with appropriate treatment. The outcome is further poor if the diagnosis of HLH is delayed or left untreated. Therefore, a high degree of clinical suspicion is paramount in diagnosing HLH., Case Presentation: A 17-year-old Sinhalese boy was admitted to a tertiary care hospital in Sri Lanka with a 4-day history of fever, headache, nausea, vomiting, and diarrhea. He was hemodynamically stable, and the serological investigation confirmed a dengue infection. On the fifth day of fever, he entered the critical phase of dengue infection, confirmed by ultrasound evidence of plasma leaking. However, he had ongoing high fever spikes during the critical phase, and even after the critical phase was over, the fever spikes continued. Simultaneously, hepatosplenomegaly was noticed, and he showed persistent thrombocytopenia, neutropenia, and anemia despite the resolution of the critical phase. Further, the workup revealed a serum ferritin level of > 3000 ng/mL triglyceride level of 314 mg/dL, and the bone marrow biopsy revealed an increased haemophagocytic activity. Secondary HLH was diagnosed on the basis of criteria used in the HLH-2004 trial and successfully managed with intravenous dexamethasone 10 mg/body surface area/day for the first 2 weeks, followed by a tapering regimen over 8 weeks., Conclusion: This case emphasizes the need to consider HLH as a potential complication when persistent fever and cytopenias are present after recovering from dengue fever, particularly in patients with unusual clinical features like hepatosplenomegaly. Early recognition and prompt treatment with appropriate immunosuppressive therapy, such as intravenous dexamethasone, can lead to a successful response and good prognosis., (© 2023. The Author(s).)

Prolonged fever with pancytopenia and hepatosplenomegaly is a clinical entity frequently encountered by physicians. The diagnosis of such cases is challenging due to the diversity of differential diagnoses. Hepatosplenic T-cell lymphoma is a rare and aggressive type of non-Hodgkin lymphoma that can present with massive hepatosplenomegaly, pancytopenia and prolonged fever. Most of the patients are young men and the majority are associated with chronic immunosuppression. We report a 40-year-old immunocompetent woman with prolonged fever and pancytopenia due to hepatosplenic T-cell lymphoma.

Objective: To describe the clinical features and course of liver involvement in a cohort of patients with Niemann-Pick type C disease (NP-C), a severe lysosomal storage disorder., Study Design: Patients with genetically confirmed NP-C (NPC1, n = 31; NPC2, n = 3) and liver involvement before age 6 months were retrospectively included. Clinical, laboratory test, and imaging data were collected until the last follow-up or death; available liver biopsy specimens were studied using anti-CD68 immunostaining., Results: At initial evaluation (median age, 17 days of life), all patients had hepatomegaly, 33 had splenomegaly, and 30 had neonatal cholestasis. Portal hypertension and liver failure developed in 9 and 4 patients, respectively. Liver biopsy studies, performed in 16 patients, revealed significant fibrosis in all 16 and CD68 + storage cells in 15. Serum alpha-fetoprotein concentration measured in 21 patients was elevated in 17. Plasma oxysterol concentrations were increased in the 16 patients tested. Four patients died within 6 months of life, including 3 from liver involvement. In patients who survived beyond age 6 months (median follow-up, 6.1 years), cholestasis regressed in all, and portal hypertension regressed in all but 1; 25 patients developed neurologic involvement, which was fatal in 16 patients., Conclusions: Liver involvement in NP-C consisted of transient neonatal cholestasis with hepatosplenomegaly, was associated with liver fibrosis, and was responsible for death in 9% of patients. The combination of liver anti-CD68 immunostaining, serum alpha-fetoprotein measurement, and studies of plasma biomarkers should facilitate early identification of NP-C., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Background: There is an increased demand for hematopoietic stem cell transplant (HSCT) to treat various diseases including combined immunodeficiencies (CID), with limited worldwide availability. Variables affecting the decision regarding CID patients' prioritization for HSCT are not known. We aimed to determine general, clinical, and immunologic factors associated with the higher risk of early death (≤6 months after diagnosis) in untransplanted CID patients., Methods: Data collection was done retrospectively from five centers and included general patients' information, and clinical and laboratory variables. Inclusion criteria were untransplanted patients who are either dead or alive with a follow-up period ≥6 months after diagnosis., Results: Two hundred and thirty-six CID patients were reported by participating centers, of whom 111 were included in the study with a cumulative follow-up period of 278.6 years. Seventy-two patients died with the median age of death of 10.5 months. 35.1% of the patients succumbed within 6 months after the diagnosis. Having a history of Candida infections, sepsis or hepatomegaly was associated with an increased risk of early death. None of the other general or clinical variables was associated with such risk. Bivariate analysis of lymphocyte subsets showed that patients with the following counts: CD3 +  < 100, CD4 +  < 200, CD8 +  < 50, or CD16 + CD56 + <200 cells/μl had increased risk of early death. In adjusted analysis, increased risk of early death was observed among patients with CD3 + count <100 cells/μl., Conclusion: Combined immunodeficiencies patients with a history of Candida infections, sepsis, hepatomegaly, or severe T-lymphopenia should be given priority for HSCT to avoid early death., (© 2022 European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)

An inadequate future liver remnant (FLR) can preclude curative-intent surgical resection for patients with primary or secondary hepatic malignancies. For patients with normal baseline liver function and without risk factors, an FLR of 20% is needed to maintain postsurgical hepatic function. However, the FLR requirement is higher for patients who are exposed to systemic chemotherapy (FLR, >30%) or have cirrhosis (FLR, >40%). Interventional radiologic and surgical methods to achieve FLR hypertrophy are evolving, including portal vein ligation, portal vein embolization, radiation lobectomy, hepatic venous deprivation, and associating liver partition and portal vein ligation for staged hepatectomy. Each technique offers particular advantages and disadvantages. Knowledge of these procedures can help clinicians to choose the suitable technique for each patient. The authors review the techniques used to develop FLR hypertrophy, focusing on technical considerations, outcomes, and the advantages and disadvantages of each approach. Online supplemental material is available for this article. © RSNA, 2022.

In this prospective study, children from 1-month to 12-years, admitted with positive IgM ELISA testing for scrub typhus, were enrolled over 1-year and administered an empirical single dose of azithromycin (10 mg/kg). All 189 (median age 4.84-years) children had fever with median duration of 8 days at admission. Shortness of breath, altered sensorium, headache, lymphadenopathy, hepatosplenomegaly, pallor, oedema and hypotension were the most prominent symptoms/signs. About 46% of children developed complications, among them hepatic, neurological and cardiovascular were most common. Our study showed a remarkable response to azithromycin, with mean defervescence of 32 h and no mortality. The presence of shortness of breath, headache, altered sensorium, hepatosplenomegaly, meningeal signs, severe anemia, leucocytosis, hyponatremia along with/without any of above mentioned three systemic complications were independent predictors for delayed treatment response by multivariate logistic regression analysis. Hepatic, neurological and cardiovascular complications are an emerging trend. Empiric azithromycin based on clinical suspicion of scrub typhus can be lifesaving.

Background: We describe a case of Mauriac syndrome, which is a rare complication of poorly controlled type I diabetes that combines glycogenosis, hepatomegaly, growth retardation with a Cushingoid appearance that is most often present in children but also in young adults. Here we also describe another finding with this syndrome, which is hyperlactatemia., Case Presentation: The case is of a 16-year-old female of North African ethnicity with history of poorly controlled type I diabetes who was brought to the emergency department for dyspnea and tachycardia, treated initially for diabetic ketoacidosis. Her persistent hyperlactatemia helped to reveal a more subtle condition known as Mauriac syndrome after multiple examinations and follow-up., Conclusions: This case reports shows that Mauriac syndrome is a rare condition that should be considered in a setting of poorly controlled type I diabetes, hepatomegaly, Cushingoid appearance, and hyperlactatemia. The current treatment of this condition is a strict control of blood glucose levels with an attempt to achieve an acceptable glycated hemoglobin value., (© 2022. The Author(s).)

Background: Patients with acid sphingomyelinase deficiency (ASMD) may be referred to a hepatologist for liver manifestations. This study summarized the liver manifestations of patients with ASMD in the early disease course., Methods: This study enrolled ASMD patients diagnosed by genetic tests between July 2016 and December 2020 in a national pediatric liver center. The significance of low High-density lipoprotein cholesterol (HDL-C) for aid diagnosis of ASMD in infancy was explored by reviewing 160 consecutive infants with liver manifestations, who underwent both genetic tests and lipid profile studies, between January 2020 and December 2020., Results: A total of 7 patients were diagnosed as ASMD, and 10 known disease-causing variants were identified. Hepatosplenomegaly, elevated transaminases, and liver foam cells were observed in all the 7 patients at age ranging from 4 to 31 months. Low HDL-C was detected in 5 patients, cherry red spot in 4 patients, development delay in 3 patients, and interstitial lung diseases in 1 patient. Three ASMD patients developed cholestasis around 1 month of age, and bilirubin levels normalized at age ranging from 3 to 10 months. They had persistently elevated transaminases and hepatosplenomegaly, and died within 4 years of age. Among the 160 infants with liver manifestations, 125 (78.1%) had low HDL-C. Fifty-four had both low HDL-C and splenomegaly, including 48 cholestatic infants, but only 1 (1.9%, 1/54) infant without cholestasis was diagnosed as ASMD., Conclusions: ASMD can manifest as neonatal cholestasis in the early disease course. Cholestasis is a pitfall when low HDL-C is used for aid diagnosis of ASMD in infants with splenomegaly., (© 2022. The Author(s).)

We report a case of a young girl of South Asian descent presented with faltering growth, hepatomegaly, hypertriglyceridaemia and raised transaminases. Subsequent ultrasound scans identified fatty infiltration in her liver, and a liver biopsy showed fibrosis and steatosis. The patient's serum triglycerides normalised without intervention by the age of 28 months. At age 6, whole-exome sequencing of the patient's genome identified novel homozygous variants in the glycerol-3-phosphate dehydrogenase 1 ( GPD1 ) gene, GPD1 c.500G>A (p.Gly167Asp), leading to a diagnosis of GPD1 deficiency., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Background and Aim: Polycystic liver disease (PLD) is related to hepatomegaly which causes an increased mechanical pressure on the abdominal wall. This may lead to abdominal wall herniation (AWH). We set out to establish the prevalence of AWH in PLD and explore risk factors., Methods: In this cross-sectional cohort study, we assessed the presence of AWHs from PLD patients with at least 1 abdominal computed tomography or magnetic resonance imaging scan. AWH presence on imaging was independently evaluated by two researchers. Data on potential risk factors were extracted from clinical files., Results: We included 484 patients of which 40.1% (n = 194) had an AWH. We found a clear predominance of umbilical hernias (25.8%, n = 125) while multiple hernias were present in 6.2% (n = 30). Using multivariate analysis, male sex (odds ratio [OR] 2.727 p < .001), abdominal surgery (OR 2.575, p < .001) and disease severity according to the Gigot classification (Type 3 OR 2.853, p < .001) were identified as risk factors. Height-adjusted total liver volume was an independent PLD-specific risk factor in the subgroup of patients with known total liver volume (OR 1.363, p = .001). Patients with multiple hernias were older (62.1 vs. 55.1, p = .001) and more frequently male (22.0% vs. 50.0%, p = .001)., Conclusion: AWHs occur frequently in PLD with a predominance of umbilical hernias. Hepatomegaly is a clear disease-specific risk factor., (© 2022 The Authors. Liver International published by John Wiley & Sons Ltd.)

Abstract: To assess the clinical efficacy and safety of gelatin sponge microparticles-transcatheter arterial chemoembolization (GSMs-TACE) plus synchronous antigen-presenting dendritic cell (DC) sequential reinfusion for advanced large liver cancer (LC).Patients with large LC were assigned to the experimental (combined sequential DC therapy) or control group. All patients received standardized GSMs-TACE. In the experimental group, 60 mL of peripheral blood was collected for in vitro culture of DCs (10-14 days). Then, intravenous reinfusion was conducted 3 times within 10, 20, and 30 days after surgery. Adverse reactions during the treatment were recorded and evaluated. The overall survival, transcatheter arterial chemoembolization frequency, and physical score (PS) were calculated.The median survival time of the experimental group was significantly longer than that of the control group. There were significant differences in median progression-free survival between the 2 groups (P < .05) and the objective effective rate at 1 and 6 months and 1 year (P < .05), but not 2 years (P > .05). The PSs of 2 groups were significantly improved at 1 month after GSMs-TACE, with more obvious improvement in the experimental group (P < .05).GSMs-TACE plus synchronous DC sequential reinfusion significantly prolonged the median survival time, improved the tumor response rate and PS, prolonged progression-free survival, and reduced intervention frequency. GSMs-TACE plus synchronous DC sequential reinfusion treatment is suitable for comprehensive treatment of patients with advanced larger LC in China., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background: The association between COVID-19 infection and the development of autoimmune diseases is currently unknown, but there are already reports presenting induction of different autoantibodies by SARS-CoV-2 infection. Kikuchi-Fuimoto disease (KFD) as a form of histiocytic necrotizing lymphadenitis of unknown origin., Objective: Here we present a rare case of KFD with heart involvement after COVID-19 infection. To our best knowledge only a few cases of COVID-19-associated KFD were published so far. Based on presented case, we summarize the clinical course of KFD and its association with autoimmune diseases, as well we discuss the potential causes of perimyocarditis in this case., Methods: We reviewed the literature regarding cases of "Kikuchi-Fujimoto disease (KFD)" and "COVID-19" and then "KFD" and "heart" or "myocarditis" by searching medical journal databases written in English in PubMed and Google Scholar., Results: Only two cases of KFD after COVID infection have been described so far., Conclusion: SARS-CoV-2 infection can also be a new, potential causative agent of developing KFD., (© 2022. The Author(s).)

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 β-glucocerebrosidase activity and elevated plasma chitotriosidase. DNA mutation studies revealed both c.1226A>G and c.116&#95;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.

Peripheral lymphadenopathy (LAP) is an important and common abnormal finding of the physical exam in general medical practice. We aimed to reveal the LAP etiology and demographic, clinical and laboratory variables that may be useful in the differential evaluation of LAP. This multicenter, nested case-control study including 1401 patients between 2014 and 2019 was conducted in 19 tertiary teaching and research hospitals from different regions in Turkey. The ratio of infectious, malign and autoimmune/inflammatory diseases was 31.3%, 5% and 0.3%, respectively. In 870 (62%) of patients had nonspecific etiology. Extrapulmonary tuberculosis (n: 235, 16.8%) was the most frequent cause of LAP. The ratio of infective etiology of LAP was significantly lower in patients older than 65 years-old compared to younger patients with the rate of 66.67% and 83.84%, respectively (p 0.016, OR 0.386, 95% Cl 0.186-0.803). The probability of malign etiology was higher both in patients who are older than 45 years-old (p < 0.001, OR 3.23, 95% Cl 1.99-5.26) and older than 65 years-old (p 0.002, OR 3.36, 95% Cl 1.69-6.68). Age, localization and duration of LAP, leukocytosis, anemia, thrombocytopenia, CRP and sedimentation rate were important parameters to differentiate infections. Size of lymph node and splenomegaly in addition to the parameters above were useful parameters for differentiating malign from benign etiology. Despite the improvements in diagnostic tools, reaching a definite differential diagnosis of lymphadenopathy is still challenging. Our results may help clinicians to decide in which cases they need an aggressive workup and set strategies on optimizing the diagnostic approach of adulthood lymphadenopathy., (© 2021. Società Italiana di Medicina Interna (SIMI).)

Competing Interests: The authors report no conflicts of interest.

In Vietnam, severe malaria is currently rare but is a life-threatening disease. It may be misdiagnosed with other common diseases. This descriptive study aimed to characterize severe malaria and its clinical aspects, as well as outcomes of infected pediatric patients to improve case management. The case-series study was carried out based on medical records of children aged between one month and 15 years with malaria diagnosed by blood smear or rapid diagnostic test. Chi-squared test with the p values less than 0.05 were considered statistically significant. There were 47 cases enrolled in the study. The prevalence of severe malaria was 29.8% (57.1% in children under five). The morbidity was 71.4% in male and 28.6% in female. Common clinical signs of severe malaria were fever (100%), severe anemia (21.4%), hepatomegaly (85.7%), and splenomegaly (71.4%). Common biological abnormalities in severe malaria were anemia, thrombocytopenia, increased liver enzymes, and high CRP level. The severe malaria was mainly caused by P. falciparum (100%). The age range for those infected with P. falciparum was 6.5 ± 4.5 years (min 0.3; max 14.9). The successful rate of treatment was 92.9% with artesunate. Antimalarial treatment time was 9.0 (6 - 12) days for severe malaria, which was twice as many as that for non-severe malaria (p = 0.067). The current clinical and biological findings of severe malaria are different from those in previous times, which make it easy to be overlooked. Therefore, it's important to perform malaria diagnostic tests when there're clinical suggestions of severe malaria, including fever, hepatomegaly or splenomegaly.

Background: The Mauriac syndrome was described in 1930 as a peculiar combination of poorly controlled diabetes mellitus type 1, stunted growth and glycogenic hepatopathy. More recently, lactic acidosis was recognized as an additional feature, often induced by insulin treatment., Case Presentation: A 17-year old girl known for diabetes type 1A and Mauriac syndrome was admitted to the emergency room with hyperglycemia of > 41 mmol/l without ketoacidosis. Under a standard insulin regimen, hyperglycemia was rapidly corrected but marked hyperlactatemia occurred., Conclusions: The mechanism of impaired glucose utilization and lactate elevation independent of ketoacidosis in Mauriac syndrome is intriguing. The rarity of Mauriac syndrome and its resemblance to glycogen storage diseases suggest the presence of a specific metabolic or genetic predisposition that remains to be identified., (© 2021. The Author(s).)

Cystic echinococcosis (CE) is a parasitic disease caused by the larval forms of species of the tapeworm Echinococcus. The most common location is the liver. To assess the frequency and clinical characteristics of portal hypertension (PH) and the risk factors for PH development, we performed a retrospective observational study of inpatients diagnosed with hepatic CE and PH from January 1998 to December 2018, at Complejo Asistencial Universitario de Salamanca, Spain. Of 362 patients analyzed with hepatic CE, 15 inpatients (4.1%) had a portal vein diameter ≥ 14 mm, and the mean diameter of the portal vein was 16.9 (standard deviation [SD] ±2.1) mm. Twelve patients were men. The mean age was 59.5 years (SD ± 17.8 years). Four patients had ascites (26.6%), four had collateral circulation (26.6%), 14 had hepatosplenomegaly (93.3%), five had esophageal varices (33.3%), four had hematemesis, and three had jaundice. Other causes of PH included hepatitis B virus (1 patient) and hepatitis C virus (1 patient) infections and alcohol abuse (1 patient). The host variables associated with PH development were male sex (odds ratio, 4.6; 95% confidence interval, 1.1-20.9; P = 0.030) and larger cyst size (10.8 ± 6.3 versus 7.6 ± 4.1; P = 0.004). Hepatic CE is an infrequent cause of PH that usually occurs without indications of liver failure. Larger cyst size and male sex were the main risk factors associated with this complication. Mortality was higher for patients with hepatic CE with PH than for patients with hepatic CE without PH.

Mauriac syndrome is rare; we share our experience of nine patients who presented at a young age with malnutrition, short stature, abdominal distention and deranged liver function.