Uncommon Clinical Manifestation Research Articles

A case report and literature review: Mycobacterium leprae infection diagnosed by metagenomic next-generation sequencing of cerebrospinal fluid

BackgroundLeprosy is a chronic infectious disease caused by Mycobacterium leprae (M. leprae) that is responsible for deformities and irreversible peripheral nerve damage and has a broad spectrum of clinical and serological manifestations. Leprosy primarily affects the peripheral nerves and rarely presents with central nervous system involvement. Diagnosing leprosy can still be difficult in some cases, especially when the infection involves uncommon clinical manifestations and extracutaneous sites. Delayed diagnosis and treatment of leprosy may lead to irreversible damage and death.Case PresentationWe report a case of a 30-year-old female presenting with “repeated high fever with symptoms of headache for 14 days”. On the day of admission, physical signs of lost eyebrows and scattered red induration patches all over her body were observed. The patient’s diagnosis was based on the clinical characteristics using a combination of metagenomic next-generation sequencing (mNGS) of cerebrospinal fluid (CSF) and slit-skin smear. After confirming Listeria meningitis and multibacillary leprosy with erythema nodosum leprosum (ENL), a type 2 reaction, she was treated with ampicillin sodium, dapsone, rifampicin, clofazimine, methylprednisolone, and thalidomide. At the 1-year follow-up, the frequency and severity of headaches have significantly decreased and a good clinical response with improved skin lesions was found.ConclusionThis case highlights the importance of considering leprosy, which is a rare and underrecognized disease, in the differential diagnosis of skin rashes with rheumatic manifestations, even in areas where the disease is not endemic, and physicians should be alerted about the possibility of central nervous system infections. In addition, mNGS can be used as a complementary diagnostic tool to traditional diagnostic methods to enhance the diagnostic accuracy of leprosy.

Endoscopic Submucosal Dissection of a Giant Rectal Adenoma Manifesting as McKittrick-Wheelock Syndrome.

McKittrick-Wheelock syndrome (MKWS) is an uncommon clinical manifestation of large, villous, epithelial lesions of the distal colon and rectum. Excessive secretion of electrolyte-rich mucus from these lesions leads to secretory diarrhea, electrolyte disorders and acute renal failure. Several cases of MKWS have been reported since its initial description in 1954. The definitive treatment for the great majority of MKWS cases has consisted of surgical resection of the affected part of the colorectum, usually in the form of a low anterior resection or an abdominoperineal resection with the formation of an ostomy. Recent developments in endoscopic resection techniques now offer new, minimally invasive treatment alternatives for MKWS patients. We present the first reported case in the Western world of MKWS caused by a rectal adenoma with a size of 19 × 10 cm, treated through endoscopic submucosal dissection. Through the lessons learned by this case, as well as by a thorough review of the literature, we discuss this uncommon syndrome, focusing on treatment alternatives.

Epileptic nystagmus as clinical manifestation of self-limited focal epilepsy: Rethinking etiology and prognostic value and literature review.

Epileptic nystagmus (EN) is an uncommon ictal clinical manifestation characterized by rapid, repetitive eyeballs movements. Few cases of EN have been reported and, in most cases, electro-clinical correlation showed a focal EEG activity, mainly in the occipital and temporo-occipital areas. Although EN occurs both in idiopathic and non-idiopathic epilepsy, the most frequent cause appears to be inborn or acquired alteration of brain structures. We report of a 12-year-old girl with EN as ictal manifestation of self-limited focal seizures. We described clinical manifestations, electroencephalographic features, treatment, and follow-up, presenting the ictal video-EEG phenomenon. Alongside, we reviewed the reported clinical features of the few pediatric cases (seven patients) with idiopathic epileptic nystagmus through a systematic literature review. Isolated Epileptic Nystagmus (IEN) is much rarer than EN, as it is more frequently associated with other types of seizures, and can be idiopathic, especially in children. Epilepsy prognosis is usually favorable with appropriate treatment, and ASM discontinuation seems to be successful after few years of treatment.

Cardiac Involvement in Monkeypox Outbreak.

Unusual presentations and uncommon clinical manifestations of Monkeypox (Mpox) in the current outbreak highlight the need to focus on cardiac symptoms of the virus. Owing to limited discussion regarding cardiac involvement in recent cases of Mpox, we conducted a scoping review to determine the range of existing research and provide a descriptive overview of the current literature on these manifestations. This review was conducted using a previously developed six-stage methodological approach and keeping in view the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for Scoping Reviews (PRISMA-ScR). Records retrieved from PubMed, ScienceDirect and Google Scholar, using a two-step search strategy, were subjected to title and abstract screening, followed by full text screening of remaining articles against specified eligibility criteria. Relevant information was extracted and summarized. Our search yielded 707 records. Following title and abstract screening, 23 articles were retrieved for full text screening. Finally, a total of nine articles were included in this review (three case series and six case reports discussing a total of 13 patients). Myocarditis was identified as the most frequently reported cardiac manifestation of Mpox. Novel clinical presentations included pharyngitis, sore throat, proctalgia, and perianal irritation. Most patients reported chest pain as the primary symptom of cardiac system involvement. Elevated troponin was the most commonly reported investigation finding followed by an elevated C- Reactive Protein. There exists a lack of high-quality studies investigating cardiac system involvement in the current outbreak of Mpox. More information is needed regarding risk factors for cardiac complications, disease progression, and cardio tropism and immunological response to improve preventive/therapeutic strategies. We highlight the paucity of relevant data and call for further discussion to improve the understanding of cardiac manifestations of Mpox. This scoping review sheds light on the underexplored cardiac manifestations of Mpox and highlights the need for heightened awareness of cardiac symptoms in the current outbreak.

A rare mutation in exon 7 of the NOTCH3 gene in a Chinese CADASIL family: Case report with a literature review

More than 300 mutations have been reported since NOTCH3 was identified as the causal gene of CADASIL. However, mutation sites on exon 7 have rarely been reported in patients with CADASIL. We reported a 44-year-old female from a Chinese family with a clear family history presented with progressive dizziness and gait disturbance for more than 2 months and aggravated for 20 days. Whole- exome sequencing (WES) was used to identify a rare heterozygous missense variant (NM_000435.3: c.1136G>C) of NOTCH3 in this patient. PolyPhen-2 and VarSite predicted that this mutation site was probably pathogenic with the highest score of 1.00 and highly conserved among species. Our case report first identified a rare C379S mutation in exon 7 of NOTCH3 in a Chinese CADASIL family, expanding the ethnic spectrum of this condition. Moreover, in view of our report and literature, if patients have a clear family history and manifest uncommon clinical manifestations of CADASIL such as dizziness and atypical headache, clinicians could consider screening NOTCH3.

An extremely rare clinical manifestation of acute appendicitis in a nonagenarian patient: lessons still to be learned.

Abstract.

Acute Upper Limb Ischemia: Prompt Surgery and Long-Term Anticoagulation Prevent Limb Loss and Debilitation.

BackgroundAcute upper limb ischemia is an uncommon clinical manifestation of thromboembolism seen predominantly in patients with atrial fibrillation. Treatment can be by conservative or surgical means but the consensus is that after conservative treatment, symptoms still persist. In this series, an attempt was made at limb preservation and return to functional capacity by early surgery in all patients diagnosed with acute limb ischemia.MethodsPatients referred with upper limb ischemia (22) were stratified into non-acute (6) treated with anticoagulation alone and those with acute ischemia. Sixteen (16) patients, age range 30–92 years (median 62.4 years) comprising mainly females (13), had clinical evidence of severe ischemia and underwent immediate brachial embolectomy with postoperative anticoagulation.ResultsSixteen patients underwent 20 embolectomies with immediate reperfusion of limbs and relief of symptoms. Two patients had two re-operations each due to recurrent symptoms but both recovered with good outcome, one going on to have an axillary-radial bypass. There was no limb disability nor limb loss, but one postoperative mortality. All other patients were seen at their 1-year review and at 5 years, eleven out of 15 patients were still alive with most resuming an active lifestyle and some returning to work.ConclusionGood outcomes were obtained in this series in both the short and long term. Despite one mortality, there was no limb loss nor disability in a mainly elderly population. Prompt surgery and meticulous long-term anticoagulation reduced complications and improved limb salvage rates ensuring that patients had a good quality of life after surgery.

Clinical Spectrum, Geographical Variability of COVID-19, and its Implications

: The coronavirus disease 2019 (COVID-19) pandemic has triggered a worldwide unprecedented public health crisis. Initially, COVID-19 was considered a disease of the respiratory system, as fever and at least one respiratory symptom was used to identify a suspected COVID-19 case. But there are now numerous reports of COVID-19 patients presenting with myriads of extrapulmonary symptoms, however, a substantial number of patients are asymptomatic. Additionally, there are significant clinical and epidemiological variations of severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) infection across different geographical locations. The updated research, thus, challenges the existing surveillance system that is mainly based on fever and respiratory symptoms. As countries are coming out of lockdown to save economic fallout, a revised surveillance strategy is required to effectively identify and isolate the infected patients. Besides, since developing countries are becoming the new epicenters of pandemic and there are limited resources for RT-PCR based tests, documenting the clinical spectrum can play a vital role in the syndromic clinical diagnosis of COVID-19. A plethora of atypical symptoms also aids in guiding better treatment and remains as a source for further research. It is, therefore, crucial to understand the common and uncommon clinical manifestations of SARS-COV-2 infection and its variability across different geographic regions.

Proteomic analysis of urine reveals biomarkers for the diagnosis and phenotyping of abdominal-type Henoch-Schonlein purpura.

BackgroundAbdominal-type Henoch-Schonlein purpura (HSP) is a common refractory disease in children. Currently, no specific diagnostic biomarker is available for HSP.MethodsChildren with abdominal type HSP were first diagnosed with three syndromes using Chinese traditional medicine. The urinary proteomes among the three syndromes of patients with abdominal type HSP and healthy controls were compared using two label-free proteomics quantifications, including data-dependent acquisition and data-independent acquisition.ResultsFor the comparison between patients with abdominal type HSP and healthy children, a total of 75 differential urinary proteins were identified by determining the overlap of the two experiments. The ingenuity pathway analysis (IPA) analysis showed that these differential proteins were correlated with the pathogenesis of abdominal type HSP. Of these, 37 proteins were distributed in 13 solid tissues as tissue-enriched proteins. Monitoring changes in these proteins might help us detect uncommon clinical manifestations of HSP. Patients with abdominal type HSP can be further distinguished into three syndromes based on the urine proteome. Finally, a panel of six urinary proteins (P25774, P09417, Q7Z5L0, P60900, P14550 and P09668) was constructed for both the diagnosis and phenotyping of abdominal type HSP.ConclusionsUrinary protein biomarkers for the diagnosis and phenotyping of abdominal type HSP were identified, which will contribute to the personalized treatment of patients with abdominal type HSP.

Experiencia y manejo de dos pacientes pediátricos grandes quemados e infección por SARS-CoV-2 en una unidad de cuidados intensivos

La infección por SARS-CoV-2 se ha diseminado rápidamente, provocando una pandemia mundial en la cual nos vemos afectados. En el Instituto Nacional de Salud del Niño de San Borja, centro de referencia nacional de pacientes pediátricos quirúrgicos, desde el 14 de abril al 12 de agosto del 2020, se hospitalizaron 106 pacientes con infección por SARS-CoV-2, de los cuales 11 tuvieron diagnostico quemadura y dos fueron pacientes grandes quemados con diagnóstico COVID-19 por prueba molecular. Detallamos el caso de una paciente pediátrica, de siete años, gran quemada que fue atendida en unidad de cuidados intensivos, y con COVID-19 asintomática, presentó evolución y pronóstico favorable, con recuperación total de su lesión. Por otro lado, el COVID-19 se puede manifestar de forma severa produciendo un síndrome inflamatorio multisistémico que presenta manifestaciones clínicas poco comunes y que puede empeorar el pronóstico, como fue observado en nuestro otro paciente de siete meses que falleció pese a recibir manejo especializado y oportuno.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.

Knobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1 . KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

S3540 A Youthful Old Man – A Rare Case of EBV Hepatitis Presenting in the Elderly Population

INTRODUCTION: Epstein- Barr virus (EBV) is a herpes virus with a majority of its primary presentations being sub-clinical. It is estimated that 90%-95% of adults are positive for infection with studies suggesting that primary infection occurs by the age of 20. EBV presentation of hepatitis accounted for < 1% of the final diagnosis compared to hepatic injury. This rare case presents the uncommon clinical and laboratory manifestations of acute EBV hepatitis. CASE DESCRIPTION/METHODS: An 83-year-old male presented with weakness and loss of appetite with 10 lb weight loss over the last month. He states 3/10 diffuse epigastric pain and nausea for one week prior to admission. He denied exposure to sick contacts, recent travel with last sexual encounter 4 years ago. He denies history of hepatitis or intravenous drug use with occasional use of Tylenol and fish oil supplements. Physical examination revealed a grossly jaundiced male with a normal abdomen without hepatomegaly or splenomegaly. Laboratory findings on admission showed elevated transaminases with ALT 1,028U/L, AST 718U/L, alkaline phosphatase (ALP) 1,185 U/L, total bilirubin 4.2mg/dL, and INR 1.1. During the patient’s hospital stay, the transaminases continued to decrease but ALP rose to 1,378U/L over the next two days before trending down and total bilirubin to 14.7 mg/dL (direct bilirubin >10 mg/dL). Ultrasound revealed a 13.7cm heterogeneous textured liver without biliary or common ductal dilation. Multiple echogenic lesions were seen, likely hemangiomas. All viral panels were negative aside from the EBV panel, which was positive for IgM and IgG. Patient was diagnosed with EBV hepatitis and was provided supportive treatment with NAC therapy. During the patient’s hospital course, his weakness and nausea persisted but pain resolved as LFTs started to trended down. The total bilirubin remained elevated at discharge. INR was stable throughout his stay. AST/ALT had decreased to 190/195 and with improvement, he was discharged home with hepatology clinic follow up. DISCUSSION: EBV hepatitis typically presents with fever, lymphadenopathy, sore throat, lymphocytosis, and splenomegaly with auto resolution over 8 weeks. Our patient did not have the typical symptoms, but presented with jaundice, cholestatic liver injury with significant elevations in liver panels. Treatment is supportive care. Our patient completed NAC therapy and with improvement was discharged home with close with close monitoring but was unfortunately lost to follow up due to the Covid pandemic.

Dialysis-related amyloidosis associated with a novel β2-microglobulin variant

Till date, there had been no reported case of dialysis-related amyloidosis (DRA) associated with a β2-microglobulin variant. We report here a 41-year-old haemodialysis patient with systemic amyloidosis, exhibiting macroglossia and swelling salivary glands, uncommon clinical manifestations for DRA. Molecular analysis showed that the patient had a new variant of β2-microglobulin (V27M). Extracted amyloid protein was predominantly composed of variant β2-microglobulin. In vitro analysis revealed that this variant β2-microglobulin had a strong amyloidogenic propensity, probably owing to the decreased stability caused by a bulky methionine residue. Our data clearly show that V27M variant is amyloidogenic and this mutation results in unusual clinical manifestations. To date, only one amyloidogenic β2-microglobulin variant (D76N) has been reported in non-dialysis patients. It is noteworthy that the V27M and D76N variants show substantial differences in both clinical phenotypes and pathomechanical features. This is the first case of DRA associated with a naturally occurring β2-microglobulin variant.

Strongyloides Stercoralis infection mimetizing pancreatic pseudotumor in immunocompetent patient

Strongyloides stercoralis is one of the most prevalent species of parasites in the world and isconsidered endemic in Latin America. Strongyloides stercoralis is an intestinal parasite, transmitted by soil and highly prevalent in hot regions with inadequate sanitation. Commonly reported symptoms of strongyloids infestation include diarrhea, vomiting, abdominal pain, hives, and "larva currens". In the present report, a man without comorbidities, with no immunosuppressive conditions, developed an exuberant clinical picture, whose infection spread in a way to cause uncommon clinical manifestations, such as intestinal ulcerations, running with duodenal stenosis and pancreatic pseudo tumor. The diagnosis was made by computer tomography and histopathological examination of duodenal lesions. After the antiparasitic treatment, the patient evolved with complete remission of gastrointestinal symptoms, of imaging findings and with adequate nutritional recovery. Although pancreatic involvement related to Strongyloides stercoralis infection is a rare condition, should be considered as a diferential diagnosis in pancreatic pseudotumors.

How Mechanism Knowledge Can Help to Management of Drug Hypersensitivity

To describe the mechanisms involved in the heterogeneous drug hypersensitivity reactions and how a better understanding of them can help in the correct diagnosis, the improvement of the in vitro diagnostic methods, and the management of the reaction. We know that drug hypersensitivity reactions are mediated by different mechanisms and until now some drugs have been reported to be able to activate the immune system by a single mechanism while other drugs can be involved in different mechanisms. Moreover, studies show that important clinical aspects such as risk factors, predictability, and cross-reactivity may depend on the drug action mechanism. In this way, recent genetic association studies have shown different human leukocyte antigen (HLA) associations with hypersensitivity reactions depending on the drug and/or the mechanism involved. Mechanistically, drug hypersensitivity reactions (DHRs) are classified as allergic and non-allergic reactions. Allergic reactions have been further classified into reactions mediated by IgE, IgG, or IgM; immune complex/complement activation; and T cells. Non allergic reactions can be associated to nonspecific histamine release, bradykinin increase, complement activation, or changes in the metabolism of arachidonic acid. More recently, a classification based on the mode of action of drugs has been proposed, suggesting three mechanisms involved in DHRs: (i) drugs that bind covalently on macromolecules (e.g., proteins) (allergic/immune reaction); (ii) drugs that bind on immune receptors like HLA and T cell receptors (pharmacological interaction, p-i reactions); and (iii) drugs with the ability to stimulate or inhibit receptors or enzymes of inflammatory cells (pseudo-allergy). An extended knowledge on the mechanisms involved in the heterogeneous DHRs can help to understand differences in sensitization patterns, uncommon clinical manifestations, dependence on drug dose, predictability, and cross-reactivity. For that, a better understanding of them can help in the correct diagnosis and the management of the reaction.

Acute Trigeminal Nerve Neuritis in German Shepherd

Background: Trigeminal nerve is composed by ophthalmic, maxillary and mandibular portion, presenting sensory and motor functions. Its most common conditions include vascular, neoplastic, infectious and inflammatory causes. Neuritis is an inflammation caused by a primary nerve injury that can progress to demyelination and even degeneration of nerve fibers. The present report aims to describe an unusual case of a female dog, German Shepherd breed, with acute manifestation of trigeminal nerve neuritis whose etiology may be associated with erlichiosis, since infection with Ehrlichia spp. through serological test was verified.Case: A 3-year-old female German Shepherd , weighing 26.8 kg and not neutered, was attended at Veterinary Hospital Dr. Halim Atique - UNIRP, São José do Rio Preto, SP, Brazil presenting apathy, sialorrhea and polydipsia for seven days. The tutor reported an episode of foamy and yellowish vomit three days ago and ixodidiosis last week. Physical examination revealed flaccid open-mouthed posture, with mild bilateral masseter and moderate temporal muscle atrophy. Water was offered to the animal and it was observed that it could not properly seize, confirming a false polydipsia. The neurological examination revealed a slight decrease in head sensitivity, difficulty in chewing and seizure of food. It was not observed alterations in the other pairs of cranial nerves or other neurological parameters (postural reactions and spinal reflexes), and the diagnose of bilateral dysfunction of the trigeminal nerve was based on the affected neuroanatomic region. On neurological examination, other lesions of the nervous system were ruled out, suggesting an isolated manifestation of the trigeminal nerve. CBC revealed anemia, intense thrombocytopenia and leukocytosis by neutrophilia. Radiographic examination ruled out the possibility of trauma due to the absence of mandible fracture and also temporomandibular joint alterations. Masseter and temporal muscle biopsy were performed, and myositis or other masticatory muscle alterations were discarded among the diagnostic possibilities. Serological tests showed non-reactive results for toxoplasmosis and neosporosis, but reagent for Erlichia spp.Discussion: Idiopathic trigeminal neuritis (ITN) has an unknown etiology, but is not related to signs of systemic disease, and is usually not associated with deficits in other cranial nerves. The main clinical sign related to this condition is acute jaw paralysis, with inability to close the mouth, and in some cases is observed sensitivity deficits in face, as observed in the dog of this report during the neurological examination. In the patient of the present report, no justifiable causes were found for the presented symptoms, except the presence of erlichiosis. The treatment was based on the use of prednisone, doxycycline, antioxidants and vitamin complex. Response to treatment was satisfactory after seven days, and complete remission of clinical signs occurred nine days after its onset. Although cranial nerve neuritis is an uncommon clinical manifestation of erlichiosis, the patient in this study presented a good response to the treatment instituted, suggesting that erlichiosis is an important differential diagnosis for neuritis.

Leptospirosis: a neglected tropical zoonotic infection of public health importance-an updated review.

Leptospirosis is a zoonotic and waterborne disease worldwide. It is a neglected, reemerging disease of global public health importance with respect to morbidity and mortality both in humans and animals. Due to negligence, rapid, unplanned urbanization, and poor sanitation, leptospirosis emerges as a leading cause of acute febrile illness in many of the developing countries. Every individual has a risk of getting infected as domestic and wild animals carry leptospires; the at-risk population varies from the healthcare professionals, animal caretakers, farmers and agricultural workers, fishermen, rodent catchers, water sports people, National Disaster Response Force (NDRF) personnel, people who volunteer rescue operations in flood-affected areas, sanitary workers, sewage workers, etc. The clinical manifestations of leptospirosis range from flu-like illness to acute kidney failure (AKF), pneumonia, jaundice, pulmonary hemorrhages, etc. But many rare and uncommon clinical manifestations are being reported worldwide. This review will cover all possible updates in leptospirosis from occurrence, transmission, rare clinical manifestations, diagnosis, treatment, and prophylactic measures that are currently available, their advantages and the future perspectives, elaborately. There are less or very few reviews on leptospirosis in recent years. Thus, this work will serve as background knowledge for the current understanding of leptospirosis for researchers. This will provide a detailed analysis of leptospirosis and also help in finding research gaps and areas to focus on regarding future research perspectives.

Red puffy hand syndrome mistaken for inflammatory arthritis

Red puffy hand syndrome is an uncommon clinical manifestation of intravenous drug abuse, which presents with bilateral, painless and non-pitting erythema and edema of the dorsal hands. The pathophysiology is believed to primarily be the result of lymphatic blockage from either direct toxicity of the injected drug, drainage of impurities, or infection complications. A woman in her 40's with remote intravenous drug use presented with over a decade of fixed, painless erythema and swelling of bilateral dorsal hands. Owing to an elevated rheumatoid factor, which would later be attributed to patient's untreated hepatitis C, these findings were mistaken for rheumatoid arthritis and unnecessarily treated with methotrexate and prednisone. Upon proper recognition of her underlying Red puffy hand syndrome, systemic medications were discontinued and appropriate care was initiated with lymphedema decongestion and occupational therapy. Red puffy hand syndrome, albeit rare, is an important manifestation of intravenous drug abuse; its recognition will spare patients from unnecessary systemic treatments.

Pleural Effusion in Pulmonary and Extrapulmonary Blastomycosis

Objective: Pleural effusion secondary to blastomycosis infection is an uncommon clinical manifestation of the disease. We undertook a retrospective study to assess the incidence and involvement of pleural effusion in patients with blastomycosis infection. Study Design: Institutional cytology and surgical pathology records were searched from December 1995 to October 2017 for cases of blastomycosis. The cytologic, surgical pathology, and clinical pertinent information was reviewed in detail. Results: A total of 77 cases of blastomycosis infection were recorded, with a male-to-female ratio of 1.7:1.0. Forty-eight cases of blastomycosis were pulmonary (62.3%), while 29 cases of blastomycosis were found in extrapulmonary sites (37.7%). The diagnosis of pulmonary blastomycosis was established by 24 lung biopsies/wedge resections, 22 bronchial alveolar lavages, and 2 lung fine needle aspirations. The 29 cases of extrapulmonary blastomycosis included 13 cases of bone (44.8%), 8 cases of skin (27.6%), 6 cases of soft tissue (20.7%), and 2 cases of brain infections (6.8%). Twenty-eight of 48 pulmonary cases were complicated by unilateral or bilateral pleural effusion (58.3%) detected by imaging studies. Four of the 28 pleural effusions were aspirated and examined by cytology. Two of the 4 pleural fluid cytologies showed involvement by blastomycosis (50%). In the extrapulmonary blastomycosis group, 9 of 29 patients showed unilateral or bilateral pleural effusions (31.0%), including 4 cases of bone, 4 cases of skin, and 1 case of brain involvement. Only 2 of the 9 pleural effusions were aspirated for cytology study. One of the 2 pleural fluid cytologies showed blastomycosis (50%). Conclusion: Pleural effusion detected by imaging is common in blastomycosis patients. Blastomycosis can involve pleural fluid in both pulmonary and extrapulmonary diseases. A broad infectious differential that includes blastomycosis should be considered to make a timely diagnosis and initiate antifungal therapy to prevent systemic infection and further dissemination of the disease.

CT features of hepatic epithelioid angiomyolipoma: differentiation from hepatocellular carcinoma in patients with noncirrhotic livers.

Hepatic epithelioid angiomyolipoma (HEA) shares some similarities with other hepatic tumors, such as hepatocellular carcinoma (HCC). Thus, establishing a definite diagnosis of HEA based on medical imaging is often difficult. In this study, we evaluated multiphasic computed tomography (CT) imaging to differentiate HEA from HCC in patients with noncirrhotic livers. We retrospectively analyzed the clinical and imaging data of both contrast and non-contrast enhanced CT scans from 25 patients with HEA and 50 patients with HCC in noncirrhotic livers. CT features, including lesion position, size, shape, interior content, border, enhancement degree, and enhancement pattern, were independently evaluated by two radiologists. Intratumoral blood vessels, peripheral supply vessels, the early display of the hepatic vein, peripheral abnormal perfusion, peripheral washout sign, pseudocapsule, and portal tumor thrombus were also evaluated. Next, we quantitatively analyzed difference within results of clinical and CT characteristics between the HEA and HCC groups. The number of female HEA patients is more than male (76% vs. 24%), with a mean age of 49.44±10.33 years (from 30 to 68 years). The majority (64%) of HEA patients were asymptomatic, without hepatitis (88%). On non-contrast enhanced CT, HEA mainly manifested as a round (92%), hypodense mass (100%) with little fat (12%) and rare complications, such as hemorrhage (4%) and calcification (4%). HEA all manifested as an intensely enhanced mass on contrast-enhanced CT. The differences between HEA and HCC were significant in the imaging characteristics of the early display of the hepatic vein (32% vs. 0%, P=0.000), intratumoral blood vessels during the nonarterial phase (36% vs. 8%, P=0.003), washout enhancement (52% vs. 86%, P=0.001), and prolonged enhancement (40% vs. 4%, P=0.000). Although HEA is an uncommon hepatic tumor, clinical and CT manifestation may be indicative. Clinical and CT characteristics including asymptomatic, non-hepatic, fat-deficient, early display of the hepatic vein, intratumoral blood vessels during the nonarterial phase and prolonged enhancement are selected to improve the recognition of HEA, supporting for a differential diagnosis from HCC.