Variable Clinical Presentation Research Articles

Cardiac metastasis from carcinoma gall bladder - a rare case detected on autopsy

Metastasis to the heart is uncommon compared to other organs, posing notable diagnostic challenges. Incidence in autopsy studies typically ranges between 0.7% and 3.5%. Lung, breast, and hematologic cancers are the main sources of such metastases, leading to varied clinical presentations and severe complications. Postmortem viscera from a 47 year old male with a suspected history of jaundice. Only limited information was available. Gross examination showed a solid mass in the gall bladder with areas of hemorrhage and necrosis, while no other abnormalities were observed in other viscera received. Brain examination showed congested blood vessels, while heart sections exhibited atypical cell deposits in the pericardium and myocardium. Coronary arteries displayed pathological thickening. Lung and liver sections also displayed similar metastatic atypical cell deposits, infiltrating tissue and causing necrosis. Gall bladder examination revealed irregular glandular formations lined with polygonal tumor cells positive for cytokeratin. The final diagnosis based on histomorphological features and immunohistochemistry confirmed gall bladder adenocarcinoma metastasising to the heart, liver and lungs.

8536 Unusual Finding of Familial Adenomatous Polyposis in a Patient with X Linked Adrenoleukodystrophy

Abstract Disclosure: A. Deswal: None. A. Dwarakanathan: None. Introduction: X Linked Adrenal Leukodystrophy (X-ALD) is a rare hereditary genetic disorder of impaired peroxisomal metabolism due to a defective transmembrane protein, ADLP. Defective ADLP impairs transport of VLCFA-CoA esters across cytosol into peroxisomes leading to build-up of toxic VLCFA in the cells. X-ALD is caused by mutation in ABCD1 gene, located on X chromosome, which codes for ADLP. It has a broad clinical spectrum including Cerebral ALD, Adrenomyeloneuropathy and Adrenocortical insufficiency. X-ALD has a general prevalence of 1 in 17,000 newborns. Approximately 80% of males with X-ALD develop primary adrenal insufficiency in their lifetime. It can be diagnosed by measuring VLCFA levels in plasma , checking for ABCD1 gene mutation or by doing Brain MRI (depending upon phenotypical presentation ). Case presentation: We report a case of a 23 year old man who had primary adrenocortical insufficiency subtype of X-ALD. His mother was a carrier of ABCD1 gene mutation. He himself tested hemizygous for ABCD1 gene. He came to our office for a follow up visit after an episode of adrenal crisis for which he was hospitalized. He was started on replacement therapy with prednisone and fludrocortisone. Over the next couple of years, he was diagnosed with diabetes mellitus with initial HbA1C of 8.8%. GAD antibody test for type I DM came out negative. His diabetes was managed with metformin and pioglitazone( later discontinued) .By the age of 25,he was found to have polyposis of colon. He tested positive for APC gene mutation . He underwent a J pouch surgery . He also developed PICA aneurysm. Discussion: X-ALD is a hereditary progressive disease with no association between genetic and phenotypic presentations. Adrenal insufficiency type is usually the first to present. Cerebral ALD is typically diagnosed between the ages of 3-18 presenting as psychiatric illness. Myelopathy typically starts by middle age and involves the spinal cord, causing the affected individuals to develop gait disturbances , bladder and bowel dysfunction, with severe mobility dysfunction by 5th-6th decade of life. We present a unique case of a young man with adrenal insufficiency type of X-ALD who also developed gastrointestinal pathology. Per our literature review, X-ALD has not been seen associated with APC gene mutations or colon carcinomas . Pathology behind XLD revolves around ABCD1 gene mutaion causing VLCFA accumulation in plasma, fibroblasts, adrenal glands, oligodendrocytes , astrocytes etc. Whereas FAP involves APC gene mutation which affects the intestinal epithelial cells leading to their apoptosis and polyp formation. X-ALD and FAP are disorders of two different gene mutations with varied clinical presentations. But the question arises regarding finding of APC gene mutation in a patient with ABCD1 gene mutation that if it is a mere co-incidence or common mutation pathway linking these two disorders exists. Presentation: 6/2/2024

6365 An Atypical Case Of Large Metastatic Pheochromocytoma With Negative Catecholamine Secretion

Abstract Disclosure: D. Caesario: None. J.K. Fernandes: None. Introduction: Pheochromocytomas (PCCs) are rare tumors arising from chromaffin cells of the adrenal medulla. Diagnosis is suggested by clinical presentations and confirmed by biochemical hypersecretion of metanephrines (MN) and catecholamines (CA). We report an atypical case of large metastatic PCC with normal MN and CA. Case Report: A 61-year-old female presented with uncontrolled HTN despite taking amlodipine, losartan, and carvedilol. No other symptoms reported. She had presented 12 years prior with an 8.7 cm left adrenal mass (AdM) that was incidentally found on CT scan, but she was lost to follow-up. Repeat imaging for her current presentation revealed enlargement of left AdM to 15 cm, centrally necrotic, with absolute washout of 63%. There was extensive local regional involvement, including possible invasion of the pancreas; abutment to left kidney, left renal vein, left hepatic lobe, and stomach; encasement and possible invasion of the splenic vein; and formation of perisplenic collateral vessels. Metastatic lesions were also seen in the liver, bones, and lungs. DOTATATE PET/CT scan showed variable uptake, not a definitive pattern for PCC or neuroendocrine tumor (NET). Labs showed normal levels of plasma fractionated MN and CA, dopamine, renin, aldosterone, cortisol, ACTH, and DHEA-S. Chromogranin A (CgA) was elevated to >8000 ng/dL. Biopsy taken from one of the liver lesions was consistent with metastatic PCC. No family history of NET. Genetic testing was offered, but was deferred. Due to the large tumor burden, she was determined to be nonsurgical and started on systemic therapy with sunitinib. Doxazosin was also added, which better controlled her BP. After 9 months of sunitinib therapy, a repeat CT scan showed overall stable metastatic lesions, but the left AdM had enlarged to 16 cm. Given the slowly worsening disease, patient was switched to temozolomide. She is still actively being treated and monitored today. Discussion: The clinical features of PCC result from excessive CA secretion. HTN is the hallmark of CA release, but the amount, type, and pattern of CA secretion is extremely variable, leading to varied clinical presentations. CgA secretion is also elevated in PCC, but is generally a non-specific marker as its level is also increased in multiple NETs and non-endocrine medical conditions. About 9% of patients with PCC may have normal biochemical workup, with this being even rarer in malignant cases. In general, the amount of CA, MN, and CgA released by the tumor is also positively correlated with the tumor size. The case above is unique in that despite the large tumor burden the patient only presented with HTN and had normal MN and CA levels. Her CgA was significantly elevated, which could correlate with the tumor size, but was interestingly the only marker elevated. It appears that CgA could be a useful adjunct in the diagnosis of PCC, especially in cases where PCC appeared to be non-secretory. Presentation: 6/3/2024

Exploring the circulating metabolome of sepsis: metabolomic and lipidomic profiles sampled in the ambulance

BackgroundSepsis is defined as a dysfunctional host response to infection. The diverse clinical presentations of sepsis pose diagnostic challenges and there is a demand for enhanced diagnostic markers for sepsis as well as an understanding of the underlying pathological mechanisms involved in sepsis. From this perspective, metabolomics has emerged as a potentially valuable tool for aiding in the early identification of sepsis that could highlight key metabolic pathways and underlying pathological mechanisms.ObjectiveThe aim of this investigation is to explore the early metabolomic and lipidomic profiles in a prospective cohort where plasma samples (n = 138) were obtained during ambulance transport among patients with infection according to clinical judgement who subsequently developed sepsis, patients who developed non-septic infection, and symptomatic controls without an infection.MethodsMultiplatform metabolomics and lipidomics were performed using UHPLC–MS/MS and UHPLC–QTOFMS. Uni- and multivariable analysis were used to identify metabolite profiles in sepsis vs symptomatic control and sepsis vs non-septic infection.ResultsUnivariable analysis disclosed that out of the 457 annotated metabolites measured across three different platforms, 23 polar, 27 semipolar metabolites and 133 molecular lipids exhibited significant differences between patients who developed sepsis and symptomatic controls following correction for multiple testing. Furthermore, 84 metabolites remained significantly different between sepsis and symptomatic controls following adjustment for age, sex, and Charlson comorbidity score. Notably, no significant differences were identified in metabolites levels when comparing patients with sepsis and non-septic infection in univariable and multivariable analyses.ConclusionOverall, we found that the metabolome, including the lipidome, was decreased in patients experiencing infection and sepsis, with no significant differences between the two conditions. This finding indicates that the observed metabolic profiles are shared between both infection and sepsis, rather than being exclusive to sepsis alone.

7291 From Vaginal Bleeding to Genetic Complexity: McCune Albright Syndrome in a Toddler; Emphasizing Atypical Manifestations, Diagnostic Challenges, and Comprehensive Management

Abstract Disclosure: A.G. Martinez Sanchez: None. N. Fernandez: None. C.L. Bustamante Escobar: None. Background: McCune Albright Syndrome (MAS) is a rare genetic disorder characterized by a triad of peripheral precocious puberty, irregular café-au-lait spots, and bone fibrous dysplasia. It is often caused by post-zygotic somatic mutations in the GNAS1 gene. We present a case of a patient initially presenting with precocious puberty, whose diagnostic journey revealed MAS with atypical manifestations. Presentation: A 23-month-old girl was brought to the emergency department after her mother noticed vaginal bleeding during a diaper change; denied any trauma, fever, rash, or dysuria. Patient developed accelerated growth about six months earlier, followed by pubic hair three months prior and bilateral thelarche two weeks before presentation. The patient had no exposure to endocrine disruptors. The physical examination revealed a well-developed child, in the 92nd percentile for weight and 97th for height. Additionally, breast buds, fine hair on the labia, and minimal blood at the vaginal introitus, with no apparent signs of trauma. Initial laboratory findings showed prepubertal LH and FSH levels, elevated estradiol 120 pg/ml (prepubertal range <10) and advanced bone age (4.2 years). Normal levels of testosterone, 17-hydroxyprogesterone, and DHEA sulfate. Pelvic ultrasound demonstrated an enlarged uterus (5.6 x 1.8 x 2.4 cm) and a large cystic lesion (4.4 cm) on the right ovary. During a follow-up at the endocrinology department one week later, a meticulous examination identified an irregular café-au-lait spot measuring about 2cm over the occipital right side of her scalp. Further tests, including GnRH stimulation test, tumor markers (LDH, b-HCG, CEA, and Ca19-9), brain MRI and bone scan, yielded normal findings. Given the presentation consistent with Peripheral precocious puberty, Letrozole was initiated at 1.25 mg daily. Three months later, her growth velocity remained accelerated. However, there was a decrease in both breast tissue and uterus size (4.2 x 1.2 x 1.7 cm), and the ovarian cyst was resolved. Genetic testing in blood indicated no mutations. To conduct a thorough assessment, the insulin-like growth factor (IGF-1) level was measured and found to be 200 ng/mL (normal range 56-144 ng/mL). Unfortunately, obtaining prolactin levels was challenging due to difficult intravenous (IV) access. Conclusion: This case reveals the complexity of MAS in precocious puberty, emphasizing atypical features that add complexity to the diagnosis. Identifying an irregular café-au-lait spot served as a diagnostic indicator, revealing the diverse clinical presentations. The challenges of relying solely on genetic testing for diagnosis are evident due to the mosaic nature and tissue-specific distribution of the mutation, as highlighted by the absence of mutations in this patient. Long-term management requires ongoing monitoring and a multidisciplinary approach for optimal patient outcomes. Presentation: 6/1/2024

Performance of the 4C and SEIMC scoring systems in predicting mortality from onset to current COVID-19 pandemic in emergency departments

The evolution of the COVID-19 pandemic has been associated with variations in clinical presentation and severity. Similarly, prediction scores may suffer changes in their diagnostic accuracy. The aim of this study was to test the 30-day mortality predictive validity of the 4C and SEIMC scores during the sixth wave of the pandemic and to compare them with those of validation studies. This was a longitudinal retrospective observational study. COVID-19 patients who were admitted to the Emergency Department of a Spanish hospital from December 15, 2021, to January 31, 2022, were selected. A side-by-side comparison with the pivotal validation studies was subsequently performed. The main measures were 30-day mortality and the 4C and SEIMC scores. A total of 27,614 patients were considered in the study, including 22,361 from the 4C, 4,627 from the SEIMC and 626 from our hospital. The 30-day mortality rate was significantly lower than that reported in the validation studies. The AUCs were 0.931 (95% CI: 0.90–0.95) for 4C and 0.903 (95% CI: 086–0.93) for SEIMC, which were significantly greater than those obtained in the first wave. Despite the changes that have occurred during the coronavirus disease 2019 (COVID-19) pandemic, with a reduction in lethality, scorecard systems are currently still useful tools for detecting patients with poor disease risk, with better prognostic capacity.

Epidemiology and clinical characteristics of Aeromonas-associated gastroenteritis in Northern Israel: Insights and implications for public health

The role of Aeromonas spp. in gastroenteritis is controversial due to varied clinical presentations and variable prevalence in asymptomatic. This study, conducted in Northern Israel, aimed to compare positivity rate and demographic characteristics of patients with Aeromonas-associated gastroenteritis (AAG) to asymptomatic, and examine the role of Aeromonas in AAG by comparing clinical and epidemiological characteristics between AAG and Campylobacter-associated gastroenteritis (CAG) patients.Results showed that 4.24%-4.81% of AAG patients had Aeromonas spp. in stools as a sole pathogen in 2020-2022, compared to 4.9% of asymptomatic. Analysis of 243 CAG patients versus 70 AAG patients revealed significantly less diarrhea, fever, abdominal pain, and muscle pain in AAG patients. Multivariate analysis identified higher Ct values, recent restaurant dining, and prolonged diarrhea as predictive factors for AAG versus CAG.In conclusion, similar positivity rates of Aeromonas spp. in symptomatic and asymptomatic making the distinction between true pathogen versus commensal bacteria difficult, unlike CAG.

The Landscape of Cutaneous T-Cell Lymphoma (CTCL) in the Middle East and North Africa (MENA) and the Establishment of the MENA CTCL Working Group

The high cancer burden in the Middle East and North Africa (MENA region) is coupled with an increasing cancer incidence. While the MENA region constitutes 6% of the world’s population, it remains underrepresented in clinical trials. Cutaneous T-cell lymphomas (CTCLs) represent a heterogeneous group of rare extranodal non-Hodgkin lymphomas with variable clinical presentation. In the MENA region, where darker skin colors are more common than in the West, CTCL generally presents at a younger age and with distinct clinical features that necessitate special expertise and management across disciplines: rare forms of CTCL are more common (hypo- and hyperpigmented MF) and a higher prevalence of pediatric MF is noticed. The multidisciplinary approach to cancer management is growing worldwide and is necessary for the comprehensive management of CTCL. The MENA CTCL group was established with the aim of creating a collaborative environment for the diagnosis and treatment of CTCL in the region. Its first meeting was held in May 2023. The group plans to increase the global representation of the MENA region and establish CTCL registries and patient advocacy groups in the region.

Using Machine Learning and Electronic Health Records to Identify Neuropsychiatric Risk Scores for Delirium in ICU and General Hospital Settings.

Delirium is a common and acute neuropsychiatric syndrome that requires timely intervention to prevent its associated morbidity and mortality. Yet, its diagnosis and symptoms are often overlooked due to its variable clinical presentation and fluctuating nature. Thus, in this study, we address the barriers to delirium diagnosis by utilizing a machine learning-based predictive algorithm for incident delirium that relies on archived electronic health records (EHRs) data. We used the Medical Information Mart for Intensive Care (MIMIC) database to create a detailed dataset for identifying delirium in intensive care unit (ICU) patients. Our approach involved training machine learning models on this dataset to pinpoint critical clinical features for delirium detection. These features were then refined and applied to non-ICU patients using EHRs from the American University of Beirut Medical Center (AUBMC). Our study assessed machine learning models like Extreme Gradient Boosting (XGBoost), Categorical Boosting (CatBoost), Classification and Regression Trees (CART), Random Forest (RF), Neural Oblivious Decision Ensembles (NODE), and Logistic Regression (LR), highlighting superior delirium detection in diverse clinical settings. The CatBoost model excelled in ICU environments with an F1 Score of 89.2%, while XGBoost performed best in general hospital settings with a 75.4% F1 Score. Interpretations using Tabular Local Interpretable Model-agnostic Explanations (LIME) revealed critical indicators such as prothrombin time and hematocrit levels, enhancing model transparency and clinical applicability. These clinical insights help differentiate the delirium predictors between ICU patients, who are often sensitive to various factors. The proposed predictive algorithm improves delirium detection rates and streamlines efficiency in hospital electronic systems, thereby enabling prompt interventions to prevent delirium progression and associated complications. The clinical indicators for delirium that we identified in general hospital settings and ICU can greatly help healthcare professionals identify potential causes of delirium and reduce misdiagnosis.

Burden of liposarcoma on patients in the United States and their unmet needs: Interim survey results.

255 Background: Liposarcomas (LPS) are rare tumors that are among the most common soft tissue sarcomas (STS) worldwide. In the US, the incidence rate of LPS is increasing. The variable clinical presentation, prognosis, and response to treatment for the LPS subtypes coupled with the lack of substantial changes to systemic therapy for STS since the 1970s highlight the challenges for patients (pts) in seeking accurate diagnosis and treatment. Data on the impact of LPS on the quality of life (QoL) of pts and their caregivers are limited. Here we present interim results of a survey conducted to help understand the burden of LPS on pts in the US, their diagnostic journey, and the impact on their QoL. Methods: Pts with LPS aged ≥18 years and residing in the US completed an online survey on their experiences with the diagnostic journey, burden of disease and treatment, QoL, and sources of support. Survey enrollment is ongoing. A descriptive statistical analysis was performed. Results: Of 40 pts who completed the survey between 4 Aug 2023 and 1 Mar 2024, 83% were white and 58% lived in a suburban area. Most pts (60%) had employer-provided insurance, and 13% had an individual insurance plan. Collectively, the pts consulted at least 7 types of specialists for initial symptoms and concerns. Most (n=16) consulted with an internal medicine practitioner first and 10 with an oncologist first; many consulted with oncologists second (n=14) or third (n=10). Most pts (60%) were diagnosed by a surgeon or an oncologist. Nearly one third (n=12) of pts were unsure of their LPS stage at diagnosis; 8 noted that it was not discussed. At the time of completing the survey, 53% of pts were in remission and 18% were unsure of their stage. Approximately 25% of pts needed to travel more than 1.5 hours for treatment. In addition, 25% of pts noted that treatment did not improve their QoL. Patients’ greatest concerns about the impact of LPS were physical condition (73%) and financial aspects (53%). Over half of the pts (55%) reported that there were activities they could no longer perform because of LPS. Pts were most comfortable asking their physicians questions related to LPS, followed by physician assistants. Most pts found support resources through Facebook groups and specialists, reporting peer-to-peer support (48%), financial assistance (30%), and mental health resources (28%) as the most useful types of support. Conclusions: The interim findings of this survey underscore the challenges that pts with LPS face while navigating the healthcare system. Consultation of numerous specialists and travel time to receive treatment impact access to timely diagnosis and quality care. The impacts of LPS on QoL and finances were also key unmet needs experienced by pts, which supports an increase in QoL and financial support resources for pts. There is also a need for increased awareness among physicians about LPS and the impact on pts’ QoL as well as for effective treatments that improve QoL.

Complete remission after glucocorticoid therapy in a patient with primary hypophysitis

Summary Primary hypophysitis is a rare disease that may have variable clinical presentations. The main treatment options are clinical observation, immunosuppressive drugs, and surgery. Glucocorticoids are used as first-line medical therapy; however, non-responsiveness and recurrences are the major problems. We present a 30-year-old male patient who had an excellent radiologic response to a single course of glucocorticoids. The patient presented with malaise and severe headaches of acute onset. Cranial MRI revealed a pituitary mass compressing the optic chiasm. Hormonal evaluation studies were consistent with anterior pituitary hormone dysfunction except for the growth hormone axis. There was a mild compression on the optic chiasm in the pituitary MRI. The patient was started on methylprednisolone therapy at a dose of 80 mg/day. The pituitary MRI revealed complete regression of the mass after 2 months, and there was a complete recovery of pituitary functions after 6 months. There is no consensus on the optimal dose and duration of glucocorticoid therapy for primary hypophysitis in the literature. We report that steroid therapy, even in lower doses, might be effective in mild-to-moderate cases. Learning points Primary hypophysitis is a rare disease with a varied clinical course, and hence the treatment strategies should be individualized. There is no consensus on the optimal dose and duration of glucocorticoid therapy. Glucocorticoid therapy may induce complete remission in some patients, especially with a mild-to-moderate disease course and during the acute phase of the disease.

Evaluation of the clinical features of an outpatient cohort with Marfan syndrome

Marfan syndrome is a connective tissue disease with autosomal dominant inheritance and variable clinical presentation. The main clinical manifestations recognition could contribute to early diagnosis and cardiovascular complication prevention. We aimed to evaluate the clinical profile of a Marfan syndrome outpatient cohort. MethodsRetrospective cross-sectional study was carried out with outpatients over 12 years of age whose electronic medical records contained the clinical information and complementary exams necessary for study inclusion. Data were analyzed using descriptive statistics and comparisons were performed using student's t-test and chi-square or Fisher's exact test. P-values<0.05 were considered statistically significant. Results75 patients (29.5 ± 13.4 years) were included and 43(57 %) were female. Positive family history for the syndrome was observed in 55(73 %) patients and ectopia lentis in 37(49 %). Positive systemic score (≥7) was identified in 60(80 %) individuals and the most frequent score components were: skin striae in 64(85 %), scoliosis in 59(79 %), wrist and thumb sign in 45(60 %), moderate or severe myopia in 43(57 %) and plain flat foot in 40(53 %). Cardiovascular symptoms occurred in 17(23 %) patients: dyspnea in 10(13 %) and palpitations in 6(8 %). Mitral valve prolapse was observed in 32(43 %) participants and aortic root dilation (z-score ≥ 2) in 53(71 %), without significant difference between the groups with or without these alterations concerning sex, age, or symptom presence. ConclusionClinical profile of a Marfan syndrome outpatient cohort includes adolescents and young adults, most without cardiovascular symptoms and with a high incidence of skeletal, ophthalmological, and cardiovascular involvement. Recognizing these clinical signs could contribute to early disease diagnosis in the general population.

Successful Management of Traumatic Cervical Spondyloptosis with Incomplete Neurological Deficit in a Child: A Case Report

Abstract Background: Spondyloptosis is a condition in which one vertebral body is completely displaced over the corpus of the adjacent one. It is more common in the lumbar region of the spine, but it very rarely occurs in the cervical spine. In this study, we report a case of post-traumatic cervical spine spondyloptosis in a child. Case Report: We describe a case of a 14-year-old male, who was admitted for cervicalgia with incomplete neurological deficit as a result of falling from a tree. Computed tomography (CT) of the neck revealed a posterior C5–C6 spondyloptosis with anterior spondylolisthesis of C7–T1. Surgical intervention was performed by the anterior approach only. The patient recovered completely after 2 months. Conclusion: Traumatic cervical spondyloptosis is an injury with rare occurrence with varied clinical presentations. Until now, there is no consensus concerning the most effective treatment for spondyloptosis. Satisfactory clinical and good outcomes can be obtained by anterior cervical corpectomy and fusion.

Tip of the iceberg: extracardiac CT findings in infective endocarditis.

Infective endocarditis (IE) is a disease with high morbidity and mortality rate, but diagnosis is confounded by diverse clinical presentations, which mimic other pathologies. A history of illicit intravenous drug use, previous cardiac valve surgery, and indwelling intracardiac devices increases the risk for developing infective endocarditis. The modified Duke criteria serve as the standard diagnostic tool, though its accuracy is reduced in certain cases. Radiologists in the Emergency Room setting reading body CT may be the first to identify the secondary extra-cardiac complications and facilitate expeditious management by considering otherwise unsuspected infective endocarditis. This review highlights common extracardiac complications of IE and their corresponding CT findings in the chest, abdomen, pelvis, and brain. If IE is suspected radiologists should suggest further investigation with echocardiography.

AESTHETIC SURGICAL APPROACH FOR STURGE-WEBER SYNDROME AND FACIAL ARTERIOVENOUS TUMORS

Introduction: Sturge-Weber Syndrome (SWS) is a rare, congenital neurovascular condition associated with facial cutaneous capillary or venous malformations. The manifestations are intrinsically related to vascular malformations, resulting in neurological symptoms, soft tissue abnormalities, and restricted bone growth. Methodology: This is a case report of a single patient diagnosed with SWS, following the guidelines established by Resolution 466/12 of the National Health Council of Brazil (CNS). Results and Discussion: A Vascular Surgery approach with embolization was performed prior to the Plastic Surgery intervention. It is important to note that this particular patient did not present the common neurological manifestations. Additionally, port-wine stains manifested as giant hemangiomas on the face. Conclusion: A multidisciplinary team is essential for patients with this condition, as it can facilitate surgical resection when vascular studies are performed prior to surgery. Moreover, a multidisciplinary approach is crucial due to the varied clinical presentation and chronic conditions that require treatment.

Mantle cell lymphoma with skin involvement: Case report of a rare manifestation in a patient with initial diagnosis of chronic lymphocytic leukemia

Mantle cell lymphoma is a rare subtype of B-cell non-Hodgkin's lymphoma, which mainly affects males. It has a variable clinical presentation, with a course ranging from indolent cases that do not require treatment for years to very aggressive cases. Skin involvement is a rare event. Although most patients have disease in stage III or IV at diagnosis, they generally present with good functional status. In immunohistochemistry, CD5 is commonly expressed, a feature it shares with chronic lymphocytic leukemia. Cyclin D1 and SOX11 expression are present in almost all cases. Treatment depends on multiple factors such as age, frailty, comorbidities, disease stage, symptoms and morphological characteristics. We present the case of a male patient initially diagnosed with chronic lymphocytic leukemia who was started on treatment with ibrutinib. A biopsy of the right earlobe was subsequently performed, which documented secondary skin involvement due to a classic histological variant of mantle cell lymphoma. The patient was treated with chemotherapy between March and July 2022, with positron emission tomography at the end of the proposed cycles with complete metabolic response, so maintenance treatment with rituximab was performed and subsequently consolidated with an autologous bone marrow transplant. To date, the patient is in remission of the disease.

Atypical presentation of falciparum malaria in a returning traveler: a diagnostic dilemma

Falciparum malaria, caused by Plasmodium falciparum, is a significant global health concern, especially in tropical regions. This case report details an atypical presentation of falciparum malaria in a 32-year-old male who returned to India after traveling to South Africa. The patient presented with a two-month history of high-grade fever, severe anemia, jaundice, easy fatigability, and significant weight loss. Initial laboratory investigations revealed severe anemia, thrombocytopenia, elevated inflammatory markers, and splenomegaly, but peripheral blood smears were negative for malaria parasites. Despite initial challenges in diagnosis, bone marrow aspiration confirmed the presence of P. falciparum. The patient was treated with artemether/lumefantrine, resulting in clinical and hematological improvement. This case highlights the importance of considering malaria in patients with unexplained anemia and splenomegaly, especially those with recent travel to endemic areas, even when initial diagnostic tests are negative. It underscores the value of comprehensive diagnostic approaches, including bone marrow examination, in atypical cases. This report contributes to the understanding of malaria's varied clinical presentations and reinforces the need for awareness and timely intervention to prevent complications.

Aberrant positivity for BCOR immunohistochemistry in merkel cell carcinoma - a potential diagnostic pitfall

BackrgoundMerkel cell carcinoma (MCC) is a rare, aggressive primary cutaneous neuroendocrine carcinoma, frequently associated with clonal Merkel cell polyomavirus integration. MCC can pose significant diagnostic challenges due to its diverse clinical presentation and its broad histological differential diagnosis. Histologically, MCC presents as a small-round-blue cell neoplasm, where the differential diagnosis includes basal cell carcinoma, melanoma, hematologic malignancies, round cell sarcoma and metastatic small cell carcinoma of any site. We here report strong aberrant immunoreactivity for BCOR in MCC, a marker commonly used to identify round cell sarcomas and other neoplasms with BCOR alterations.MethodsBased on strong BCOR expression in three index cases of MCC, clinically mistaken as sarcoma, a retrospective analysis of three patient cohorts, comprising 31 MCC, 19 small cell lung carcinoma (SCLC) and 5 cases of neoplasms with molecularly confirmed BCOR alteration was conducted. Immunohistochemical staining intensity and localization for BCOR was semi-quantitatively analyzed.ResultsThree cases, clinically and radiologically mimicking a sarcoma were analyzed in our soft tissue and bone pathology service. Histologically, the cases showed sheets of a small round blue cell neoplasm. A broad panel of immunohistochemistry was used for lineage classification. Positivity for synaptophysin, CK20 and Merkel cell polyoma virus large T-antigen lead to the diagnosis of a MCC. Interestingly, all cases showed strong positive nuclear staining for BCOR, which was included for the initial work-up with the clinical differential of a round cell sarcoma. We analyzed a larger retrospective MCC cohort and found aberrant weak to strong BCOR positivity (nuclear and/or cytoplasmic) in up to 90% of the cases. As a positive control, we compared the expression to a small group of BCOR-altered neoplasms. Furthermore, we investigated a cohort of SCLC as another neuroendocrine neoplasm and found in all cases a diffuse moderate to strong BCOR positivity.ConclusionsThis study demonstrates that neuroendocrine neoplasms, such as MCC and SCLC can express strong aberrant BCOR. This might represent a diagnostic challenge or pitfall, in particular when MCC is clinically mistaken as a soft tissue or a bone sarcoma.

A case of alternating hemiplegia in 2-month-old children with nystagmus as the first symptom: A case report.

This case report delves into the rare neurological condition known as alternating hemiplegia of childhood (AHC), focusing on its clinical manifestations, diagnostic approaches, and treatment options. AHC typically presents in infants under the age of 18 months with intermittent episodes of hemiplegia, often triggered by stressors such as environmental changes, bathing, or emotional stress. Recognizing the clinical features of AHC is crucial for early identification and intervention. The paper presents a case of a 2-month-old child with nystagmus as the initial symptom, followed by limb movement disorder in the left upper limb and weakness in the right limbs. The child's condition did not improve with treatment at an external hospital, highlighting the complexity of the disease and the need for specialized care. After a comprehensive review of the patient's medical history, physical examination, and imaging studies, the child was diagnosed with AHC. The diagnosis was confirmed through video electroencephalogram and whole-exome gene detection, which revealed a de novo mutation in the ATP1A3 gene, identified as pathogenic according to the American College of Medical Genetics and Genomics guidelines. The child was admitted to Peking University First Hospital and treated with levetiracetam and flunarizine oral administration. These medications were chosen for their efficacy in managing the symptoms of AHC, particularly the hemiplegic episodes. Post-treatment, the child experienced a reduction in the frequency and intensity of hemiplegic attacks compared to the initial stage. However, the child still exhibited paroxysmal symptoms and abnormal eye movements, and developmental milestones were delayed, indicating the need for ongoing care and monitoring. This case underscores the importance of early recognition and prompt intervention in managing children with AHC. The varied clinical presentations of AHC necessitate vigilance for early differential diagnosis. Although AHC is currently incurable, appropriate treatment can mitigate the impact of complications and improve the long-term quality of life for affected children, facilitating better societal integration.

Radiological Insights into Acute Leukoencephalopathy with Restricted Diffusion (ALERD): A Case Series Analysis

Abstract Objectives The study aimed to investigate the clinical and radiological characteristics of acute leukoencephalopathy with restricted diffusion (ALERD) among pediatric patients presenting with acute encephalopathy, seizures, and fever. Methods A retrospective analysis was conducted on 48 pediatric patients who underwent magnetic resonance imaging (MRI) between April 2022 and August 2023 at Bapuji Hospital, J.J.M. Medical College, Davanagere, Karnataka, India. Inclusion criteria comprised acute-onset encephalopathy, fever, seizures, and MRI evidence of acute subcortical white matter involvement. Clinical and radiological data were collected and analyzed to delineate ALERD characteristics. Results Among the study cohort, 18.7% of cases met the diagnostic criteria for ALERD, predominantly affecting male children with a mean age of 32 months. Clinical presentations varied, including biphasic and monophasic courses. Two distinct patterns of brain involvement, diffuse and central-sparing, were identified. Laboratory abnormalities and differential diagnoses were elucidated, providing insights into distinguishing ALERD from other conditions. MRI, particularly diffusion-weighted imaging, emerged as a crucial tool for ALERD diagnosis, revealing characteristic restricted diffusion patterns. Conclusion The study underscores the importance of recognizing ALERD as a distinct clinical-radiological syndrome associated with infections, aiding in timely diagnosis and management. Understanding the varied clinical presentations and radiological patterns enhances diagnostic accuracy, emphasizing the role of MRI in ALERD diagnosis. These findings contribute to a comprehensive understanding of ALERD, facilitating improved patient outcomes and prognosis.