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Diagnostic Pathology Jun 2024Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome is a rare plasma cell (PC) neoplasm with associated paraneoplastic syndrome.... (Review)
Review
BACKGROUND
Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome is a rare plasma cell (PC) neoplasm with associated paraneoplastic syndrome. According to the current diagnostic criteria, peripheral polyneuropathy and monoclonal PC proliferative disorder represent two mandatory criteria.
CASE PRESENTATION
We report a 54-year-old male with peripheral neuropathy of bilateral lower limbs, sclerotic bone lesions, elevated vascular endothelial growth factor (VEGF) levels, splenomegaly, extravascular volume overload, endocrinopathy, and skin hemangiomas. Of note, serum and urine protein electrophoresis (PEP) and immunofixation electrophoresis (IFE) of this patient indicated undetectable M-protein and the normal ratio of free light chains κ and λ (FLC-R (κ/λ)). No monoclonal PCs were found in bone marrow examinations or biopsy of diseased bones. However, his clinical manifestations matched most of the diagnostic criteria. After excluding other diseases that are easily confused with POEMS syndrome, the diagnosis of variant POEMS syndrome with undetectable M-protein was proposed. The patient obtained clinically significant improvement and elevated VEGF returned to normal after 6 months of treatment with lenalidomide plus dexamethasone.
CONCLUSIONS
Monoclonal PC dyscrasia (M-protein) while being a mandatory criterion for POEMS syndrome is undetectable in a considerable amount of patients that otherwise demonstrate typical symptoms. Here, we reported a case of variant POEMS syndrome with featured clinical manifestations, elevated VEGF levels, and good response to therapies targeting PCs but no evidence of M-protein. Therefore, negative results in M-protein and monoclonal PCs aren't enough to reject the diagnosis of POEMS syndrome. It is imperative to recognize the variant form of POEMS syndrome.
Topics: Humans; POEMS Syndrome; Male; Middle Aged; Lenalidomide; Thalidomide; Vascular Endothelial Growth Factor A; Dexamethasone; Treatment Outcome; Myeloma Proteins
PubMed: 38849857
DOI: 10.1186/s13000-024-01502-4 -
International Journal of Surgery Case... Jul 2024The interactions between the heart and liver have been known for a long time, pericarditis constrictive could cause congestive hepatopathy via right-sided heart failure....
INTRODUCTION
The interactions between the heart and liver have been known for a long time, pericarditis constrictive could cause congestive hepatopathy via right-sided heart failure. Liver cirrhosis correlates with a high risk of mortality so perioperative management greatly influences outcomes.
CASE PRESENTATION
An Indonesian man, 50 years old, complained of breath shortness. The patient had a history of pulmonary tuberculosis and was declared cured 30 years ago. The patient began experiencing fatigue 14 years ago, and the patient was diagnosed with constrictive pericarditis 5 years ago. Currently, the patient has an increased jugular venous pressure of 9 cmHO and abnormal laboratory indicators, including a platelet count of 121,000/μL, albumin count of 3.41 g/L, direct bilirubin count of 0.7 mg/dL, total bilirubin count of 1.4 mg/dL, and INR of 1.4. Echocardiography revealed left ventricle hypertrophy, diastolic dysfunction, and right ventricle failure. Cardiac CT scan showed pericardial calcification. Abdominal ultrasound showed liver congestive and splenomegaly. Transient elastography showed severe fibrosis in liver and stiffness in spleen. The patient underwent pericardiectomy with CTP score of 6 and MELD of 12. The surgery was successful, and the complaint was reduced. The patient experienced an improvement in his condition and able to carry out activities well after 2 years post-surgery.
DISCUSSION
The patient has no contraindications to pericardiectomy, CTP class A (5-6) and MELD score <13.5 has a low risk of mortality.
CONCLUSION
CTP and MELD scores predict life expectancy in post-surgery cardiac cirrhosis patients.
PubMed: 38848659
DOI: 10.1016/j.ijscr.2024.109843 -
Cureus May 2024The management of immune thrombotic thrombocytopenic purpura (iTTP) has evolved significantly over the past several years. However, despite recent advances, there are...
The management of immune thrombotic thrombocytopenic purpura (iTTP) has evolved significantly over the past several years. However, despite recent advances, there are limited tools available for patients with comorbidities that preclude either the utilization of available treatment modalities or evidence-based laboratory target levels. Literature to guide the management of such patients is sparse at best, and many complications associated with pre-existing comorbidities in the context of iTTP have not been reported. Here we describe the case of a patient with severe thrombocytopenia at baseline due to liver cirrhosis who developed iTTP. The challenges of the case in terms of pursuing disease-directed treatment, defining laboratory parameters to guide treatment, and mitigating the risks of bleeding and disease exacerbation are discussed. We offer our perspective in treating iTTP in the setting of severe baseline thrombocytopenia and high bleeding risk.
PubMed: 38846184
DOI: 10.7759/cureus.59839 -
Medecine Tropicale Et Sante... Mar 2024Sarcoidosis is a multisystem inflammatory disease of unknown etiology. The isolated extrapulmonary form is rare. We report the case of hepatosplenic sarcoidosis in a...
Sarcoidosis is a multisystem inflammatory disease of unknown etiology. The isolated extrapulmonary form is rare. We report the case of hepatosplenic sarcoidosis in a 29-year-old female patient.It is a patient with no notable medical history, who was seen in consultation for repeated epistaxis. Clinical examination noted nodular hepatomegaly associated with signs of portal hypertension and splenomegaly. Sedimentation rate, alkaline phosphatase, serum angiotensin converting enzyme, aminotransferases were high. Histological examination of the spleen and liver biopsy noted granulomatous inflammatory infiltration without cancerous lesion or tonsil stones.This picture is comparable with sarcoidosis, despite the absence of PET scans. The main challenge remains the differential diagnosis with other granulomatoses. Corticosteroid therapy is the first-line treatment, and after splenectomy the patient has achieved clinical and biological stability.
Topics: Humans; Sarcoidosis; Female; Adult; Splenic Diseases; Congo; Liver Diseases; Hospitals, University
PubMed: 38846118
DOI: 10.48327/mtsi.v4i1.2024.478 -
The Journal of Infectious Diseases Jun 2024By acting as an environmental sensor, the ligand-induced transcription factor aryl hydrocarbon receptor (AhR) regulates acute innate and adaptive immune responses...
BACKGROUND
By acting as an environmental sensor, the ligand-induced transcription factor aryl hydrocarbon receptor (AhR) regulates acute innate and adaptive immune responses against pathogens. Here, we analyzed the function of AhR in a model for chronic systemic infection with attenuated Salmonella Typhimurium (STM).
METHODS
WT and AhR-deficient mice were infected with the attenuated STM strain TAS2010 and analyzed for bacterial burden, host defense functions and inflammatory stress erythropoiesis.
RESULTS
AhR-deficient mice were highly susceptible to TAS2010 infection compared with WT mice demonstrated by reduced bacterial clearance and increased mortality. STM infection resulted in macrocytic anemia and enhanced splenomegaly along with destruction of the splenic architecture in AhR-deficient mice. In addition, AhR-deficient mice displayed a major expansion of splenic immature red blood cells, indicative of infection-induced stress erythropoiesis. Elevated serum levels of erythropoietin and interleukin-6 upon infection as well as increased numbers of splenic stress erythroid progenitors already in steady state probably drive this effect and might cause the alterations in splenic immune cell compartments, thereby preventing an effective host defense against STM in AhR-deficient mice.
CONCLUSIONS
AhR-deficient mice fail to clear chronic TAS2010 infection due to enhanced stress erythropoiesis in the spleen and accompanying destruction of the splenic architecture.
PubMed: 38842164
DOI: 10.1093/infdis/jiae304 -
Chonnam Medical Journal May 2024
PubMed: 38841611
DOI: 10.4068/cmj.2024.60.2.136 -
Malaria Journal Jun 2024Neonatal malaria is defined as the detection of asexual stages of Plasmodium species in the cord blood within the first 28 days of life. It can be congenital or...
BACKGROUND
Neonatal malaria is defined as the detection of asexual stages of Plasmodium species in the cord blood within the first 28 days of life. It can be congenital or acquired through mosquito bites or blood transfusions. Neonates are generally considered to be relatively protected due to the multiple innate and acquired physiological protective effects present in neonates. However, in areas where malaria is endemic, the prevalence of malaria in neonates is high. The predominant clinical feature of malaria in neonates is fever. Other clinical manifestations of neonatal malaria include respiratory distress, pallor and anaemia, hepatomegaly, refusal to feed, jaundice and diarrhoea. Atypical presentations without fever can lead to inaccurate diagnosis and contribute to neonatal morbidity and mortality. Neonates from endemic areas with any of the above symptoms should be screened for malaria.
CASE PRESENTATION
We present a series of three cases of neonatal Plasmodium falciparum malaria that presented atypically without febrile episodes and were diagnosed and managed at Mizan-Tepi University Teaching Hospital between July and September 2023. The first patient presented with vomiting, refusal to feed, pallor, severe anaemia, and splenomegaly. The second patient presented with an inconsolable cry, failure to pass feces, abdominal distention, and anaemia. The third patient presented with vomiting and anaemia. All patients received a 7-day course of intravenous artesunate; the first patient also received a blood transfusion. All patients recovered and were discharged.
CONCLUSIONS
Partial immunity resulting from repeated malaria infections in endemic regions may result in the transfer of high levels of maternal Immunoglobulin G (IgG) antibodies through the placenta and can produce different atypical clinical presentations. In malaria-endemic areas, neonates presenting with any of the presenting signs and symptoms of malaria, including afebrile presentation, require malaria screening to avoid delays in diagnosis.
Topics: Humans; Infant, Newborn; Malaria, Falciparum; Female; Male; Ethiopia; Plasmodium falciparum; Antimalarials; Artesunate
PubMed: 38840266
DOI: 10.1186/s12936-024-04987-y -
Cureus May 2024A 47-year-old male, a known case of alcoholic chronic liver disease with portal hypertension, presented with complaints of abdominal distension and shortness of breath....
Iatrogenically Acquired Mycobacterium abscessus Infection in an Indwelling Intercostal Drainage In Situ in a Patient With Alcoholic Liver Disease and Bilateral Hepatic Hydrothorax: A Report of a Rare Case.
A 47-year-old male, a known case of alcoholic chronic liver disease with portal hypertension, presented with complaints of abdominal distension and shortness of breath. A provisional diagnosis of ethanol-related compensated chronic liver disease (CLD) with portal hypertension and splenomegaly, gross ascites with bilateral hepatic hydrothorax was made. The left-sided pleural effusion subsided after three pleural taps, but the right-sided effusion kept refilling even after four to five days of repeated therapeutic taps, so a pigtail catheter was left in situ. The pleural fluid was sent for culture which did not grow any pathogenic organisms. Cartridge-based nucleic acid amplification tests where complex (MTBC) was not detected, Ziehl-Neelsen staining was done in which acid-fast bacilli were not seen, and cytology was done where no malignant cells were seen. The patient was discharged with the pigtail in situ on the right side and, after 20 days, the patient again presented with shortness of breath, and imaging revealed moderate right-side pleural effusion. Draining of pleural fluid was done and sent for investigation which again revealed no infective etiology. The patient was admitted to the hospital for one month as the right-sided effusion did not resolve. Suddenly, the patient developed shortness of breath, and a chest X-ray was done, which showed pigtail blockage; pigtail flushing was done, and the bag was drained. The patient was empirically started on IV meropenem 500 mg TID, IV teicoplanin 400 mg BD, and inj polymyxin B 500,000 IU IV BD. The pleural fluid was sent continuously for investigation for the first two months which again did not reveal any infective etiology. After two months of pigtail in situ, the pleural fluid was sent for CBNAAT where MTBC was not detected, and ZN stain showed smooth acid-fast bacilli. The sample was cultured, and it grew acid-fast bacilli in 72 hours on blood agar, MacConkey agar, and Lowenstein-Jensen media. A line probe assay done from the isolate revealed it to be subsp. abscessus which was resistant to macrolides and sensitive to aminoglycosides. subsp. abscessus was isolated from repeated cultures of pleural fluid, and the patient was advised on a combination treatment of amikacin, tigecycline, and imipenem. The patient was discharged with the indwelling pigtail with the advised treatment; unfortunately, we lost patient follow-up as the patient never returned to us.
PubMed: 38832176
DOI: 10.7759/cureus.59626 -
Clinical Case Reports Jun 2024It is essential to consider non-tuberculosis mycobacterium in HIV-positive patients with fever, abdominal pain, weight loss, and splenomegaly.
KEY CLINICAL MESSAGE
It is essential to consider non-tuberculosis mycobacterium in HIV-positive patients with fever, abdominal pain, weight loss, and splenomegaly.
ABSTRACT
is an opportunistic slow-growing nontuberculous mycobacterium in patients with immunocompromised backgrounds, especially HIV-positive patients. In this study, we present two cases of infection in HIV-positive patients with a good clinical response to accurate treatment.
PubMed: 38831981
DOI: 10.1002/ccr3.8993 -
Radiologie (Heidelberg, Germany) Jun 2024Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive cholestatic liver disorder. This study aimed to present the clinical and...
PURPOSE
Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive cholestatic liver disorder. This study aimed to present the clinical and magnetic resonance imaging (MRI) features of three patients with PFIC‑3.
METHODS
The study included three patients with cholestasis and pathogenic variants in the ABCB4 gene identified by next-generation sequencing of a targeted-gene panel or by whole-exome sequencing. The clinical, laboratory, histological, molecular, and MRI features of the patients were collected.
RESULTS
Three patients (one male and two females) were enrolled. The age when clinical signs and symptoms were first noted was 21, 14, and 39 years, respectively, and the signs and symptoms included pruritus and splenomegaly (in all three patients). Parenchymatous lace-like fibrosis was associated with periportal hyperintensity and periportal halo sign in three patients. Segmental atrophy was observed in two patients, diffuse atrophy was observed in one patient, and liver surface irregularity caused by regenerating nodules was observed in three patients. Magnetic resonance cholangiopancreatography (MRCP) images showed irregular bile duct changes in three patients, focal hilar bile duct stenosis, and local intrahepatic bile duct dilatation.
CONCLUSIONS
Imaging studies using MRI and MRCP can support the clinical and laboratory results in cases of PFIC‑3 and can also be used as a noninvasive diagnostic option.
PubMed: 38829428
DOI: 10.1007/s00117-024-01324-x