Diagnostic Conundrum Research Articles

Histiocytic sarcoma arising from a lymph node: a diagnostic conundrum

Histiocytic Sarcoma (HS) is extremely rare, with only a few hundred cases reported in the literature. The majority of patients present with symptoms due to unifocal or multifocal extra-nodal disease. Less than 20% of these cases show solitary involvement of a lymph node. We report a case of a solitary HS in a 53-year-old woman presenting with a 2.7-cm right groin mass arising from an inguinal lymph node. The initial cytologic examination of the tissue showed a high-grade spindle-shaped morphology with high-grade mitotic activity. A high-grade sarcoma was initially considered considering the absence of normal lymphoid aggregate and the presence of high-grade cytologic features in the cells. To evaluate the tumor in its entirety, the mass was surgically excised. A histological examination of the tumor showed focal rimming of the lymphoid tissue at the periphery and a centrally located stellate necrotic focus. The tumor cells had an epithelioid to spindle cell morphology along with large uniform nuclei and prominent nucleoli. A high mitotic index was present. Immunohistochemistry (IHC) stains showed strong positivity for CD68, CD163, and Vimentin, and were weakly positive for SMA and CD45. Based on the histologic and clinical examination, a diagnosis of HS was made. Multiple malignancies can mimic HS histopathology and the rarity of this tumor makes the diagnosis more challenging. No fine-needle aspiration (FNA) criteria for its diagnosis have been recognized. Herein, we report a rare case of an isolated HS involving a lymph node which resembled high-grade sarcoma on the FNA biopsy to raise awareness among our surgical pathologist colleagues.

Atypical lymphadenopathy in a patient with squamous cell carcinoma of the tongue: TB or not TB?

Coexistence of a neoplastic lesion in the oral cavity and extra-pulmonary tuberculosis is a rare phenomenon. We describe a Case of a 65-year-old male diagnosed with an early-stage squamous cell carcinoma of the tongue, and concurrent ipsilateral cervical tuberculosis. We discuss the thorough use of investigations and multidisciplinary opinions to explore the initial diagnostic conundrum and implications for follow up.

A rare case of hypercalcemia in pregnancy- a diagnostic conundrum

A rare case of hypercalcemia in pregnancy- a diagnostic conundrum

637 Enterolith Ileus Secondary to Small Bowel Diverticulum: A Rare Cause of Small Bowel Obstruction

Abstract Small intestinal diverticula are rare and possibly acquired secondary to bowel dyskinesia, abnormal peristalsis, or high intraluminal pressures. Enterolith formation and obstruction are a less encountered complication of these diverticula. An elderly man, with no history of abdominal surgery, presented with 10 days of colicky right iliac fossa pain and recurrent episodes of bilious vomiting. He initially reported diarrhoea but complained of eventual absolute constipation for last 5 days. Physical examination revealed distended abdomen with right-sided tenderness and no mass or faeces on rectal examination. Abdominal CT revealed a 3.5 cm calculus in the distal ileum causing obstruction initially flagged as gallstone ileus. No gallstones or pneumobilia were identified although some intrahepatic duct dilatation was noted. An emergency laparotomy was conducted, where the radiological findings were reinforced, and the calculus was extracted via enterotomy. There were no abnormal communications between gallbladder and intestinal tract. The small bowel traced from duodenojejunal flexure to terminal ileum did not reveal any further calculi or diverticula. FTIR spectrum analysis of the extracted specimen indicated similarities to enterolith. Retrospective analysis of radiological images revealed a possible duodenal diverticulum. The case highlights the diagnostic conundrum and therapeutic challenges of small bowel diverticular enterolith.

A Rare Case of Metformin Associated Lactic Acidosis in a Type 2 Diabetic Patient With No Known Contraindications for Metformin Prescription - a Diagnostic Conundrum!

Introduction: Metformin is a biguanide drug primarily inhibits hepatic gluconeogenesis and improves insulin sensitivity. Lactic acidosis is a rare complication of metformin. The incidence of Metformin-associated lactic acidosis (MALA) is 6.3 per 100,000 patient-years. Metformin raises lactate levels by inhibiting the conversion of lactate and pyruvate into glucose, shunting towards anaerobic glycolysis. Although, MALA is a reported side effect, metformin is still identified as the drug of choice for Type 2 DM. Here we present a case of MALA in a Type 2 Diabetic patient to shed light on this controversial dilemma. Case Presentation: A 56-year-old African-American male with Type 2 DM and diabetic retinopathy presented after a fall and generalized weakness. Upon arrival, his blood sugar was 22 mg/dL. Patient was vitally stable with signs of dehydration. Home medications includes Metformin 1000 mg twice daily and Glipizide. Laboratory results showed an anion gap metabolic acidosis of 18 mmol/L, Lactic acid was 6.5 mmol/L with repeat of 7.6 mmol/L. Creatinine was 6.0 mg/dL with a BUN of 89 mg/dL. Baseline creatinine from 1 year prior was 1.3–1.5 mg/dL with GFR of 52 mL/min. Hemoglobin A1c was 5.9%. Sodium bicarbonate infusion in 5% dextrose in water. The patient clinically improved with closure of the anion gap and resolution of the metabolic acidosis. Metformin level was 10 mcg/mL. He was discharged on basal insulin and discontinued Metformin and Glipizide. Discussion: Metformin is the first line treatment of Type 2 DM due to its safety. The most common adverse events of Metformin include nausea, bloating, and diarrhea. MALA is a rare, yet serious side effect with a reported mortality of 45%. Higher mortality was associated with increased age, lower arterial pH, and need for mechanical ventilation and vasopressor medicationsThe following criteria should raise concern for MALA in patients with history of Metformin use; elevated lactate level, high anion gap, severe acidosis, low serum bicarbonate level and a history of renal insufficiency. Our patient met the above criteria. The treatment approach for MALA includes adequate supportive measures and correction of acidosis with the acceleration of lactic acid metabolism. Ultimately, if there is no improvement with the aforementioned strategies, then the next step is elimination of the offending agent by renal excretion or dialysis. Fortunately our patient improved with intravenous hydration and did not require advanced intervention. This case highlights the importance of the early recognition of MALA in a patient with unexplained anion gap acidosis and history of Metformin use as even with no risk factors, an episode of gastroenteritis can be enough to impair renal function which increases the risk of MALA. More importantly, it is crucial to educate patients to withhold Metformin in the setting of acute illness and volume contraction to prevent MALA.

Thyroid Storm: A Diagnostic Conundrum

Thyroid storm is a life threatening complication of hyperthyroidism which comes with multi-system involvement and is associated with a mortality of 8-25% despite modern advancements in treatment and supportive measures.A 47 year old woman with past medical history of hypertension and morbid obesity presented to the emergency room with 3 week history of shortness of breath and chest pain associated with productive cough, bilateral leg swelling, orthopnea and palpitations. Upon evaluation, she was in moderate respiratory distress, restless, tachypneic and tachycardic. She had bilateral proptosis and visible jugular venous pulsation along-with bibasilar crackles and pitting edema bilaterally. Lab tests revealed BNP 539 pg/ml and D-Dimer 6401 ng/ml. ECG showed atrial flutter, Chest X-Ray showed bilateral pleural effusions, and CT Chest was negative for pulmonary embolism but revealed anterior mediastinal mass, differential of which included thymoma or teratoma. She was admitted to CCU for aggressive diuresis, control of heart rate and was started on anticoagulation. A review of medical records from outside hospital revealed patient was hyperthyroid 8 months ago, however, was not on any medications. Given a Burch-Wartofsky score >70, she was started on IV hydrocortisone and cholestyramine for severe thyrotoxicosis. Endocrinology was consulted and added PTU to management. TFTs revealed a TSH 0.006 IU/ml, FT4 4 ng/dL and T3 2.5 ng/ml. Bedside ECHO showed LVEF of 14% with global hypokinesis and thyroid ultrasound revealed an enlarged, heterogenous thyroid with a solid, isoechoic, calcified left lobe nodule measuring 0.8 x 0.4 x 0.5 cm. Her serum TSI and thyrotropin receptor antibodies were elevated at 17.20 IU/L and 20.20 IU/L, respectively. She responded to treatment and was discharged on metoprolol, losartan, spironolactone, and furosemide for new-onset heart failure, apixaban for atrial flutter, and PTU and cholestyramine for hyperthyroidism, with Cardiology and Endocrinology follow-ups.Thyroid disease is a common illness affecting 9 to 15 percent of the adults. Thyrotoxicosis refers to the clinical syndrome of hyper-metabolism due to excessive amount of circulating thyroid hormones. The incidence of thyroid storm is 0.57 to 0.76 per 100,000 people per year in the US. It most commonly occurs in women and is more common in patients with underlying Grave’s Disease. The exact underlying mechanism that leads to thyroid storm is not well understood but adrenergic activation seems to have a major role. Our patient had long standing untreated hyperthyroidism with a solid nodule which led to the crisis. The most common cause of death is cardiopulmonary failure and hence treatment should be initiated as soon as diagnosis is suspected owing to high mortality.Awareness of thyroid pathology affecting the heart is important to remember in evaluating the etiology of heart failure in patients.

Mummified thyroid nodule: a diagnostic and management conundrum

A previously well 21-year-old woman presents with 2 months of a non-tender lump in the left lower neck. On examination, a soft nodule was palpated at the left thyroid gland...

Role of circulating tumor cell detection in differentiating tumor recurrence from treatment necrosis of brain gliomas.

Differentiating treatment necrosis from tumor recurrence poses a diagnostic conundrum for many clinicians in neuro-oncology. To investigate the potential role of circulating tumor cells (CTCs) detection in differentiating tumor recurrence and treatment necrosis in brain gliomas, we retrospectively analyzed the data of 22 consecutive patients with tumor totally removed and new enhancing mass lesion(s) showed on MRI after initial radiotherapy. The 22 patients were finally classified into tumor recurrence group (n = 10) and treatment necrosis group (n = 12), according to evidence from the clinical course (n = 11) and histological confirmation (n = 11). All 22 patients received CTCs detection, and DSC-MRP and 11C-MET-PET were performed on 20 patients (90.9%) and 17patients (77.3%) respectively. The data of the diagnosis efficacy to differentiate the two lesions by CTC detection, MPR and PET were analyzed by ROC analysis. The mean CTCs counts were significantly higher in the tumor recurrence group (6.10 ± 3.28) compared to the treatment necrosis group (1.08 ± 2.54, p < 0.001). The ROC curve showed that an optimized cell count threshold of 2 had 100% sensitivity and 91.2% specificity with AUC = 0.933 to declare tumor recurrence. The diagnostic efficacy of CTC detection was superior to rCBV of DSC-MRP and rSUVmax in MET-PET. Furthermore, we observed that CTCs detection could have a potential role in predicting tumor recurrence in one patient. Our research results preliminarily showed the potential value of CTC detection in differentiating treatment necrosis from tumor recurrence in brain gliomas, and is worthy of further confirmation with large samples involved.

Catching "Early" COPD - The Diagnostic Conundrum.

Chronic obstructive pulmonary disease (COPD) remains a leading cause of morbidity and mortality worldwide. Despite this, there has been little progress so far in terms of disease-modifying therapies over the last few decades and this is in part due to poor understanding of the definition and mechanisms surrounding early disease before it becomes established and increasingly complex. In this review, the nuances and difficulty in defining early disease in COPD are discussed. There are clear benefits in identifying patients early; however, usually diagnosis is made in the presence of significant lung damage. We consider what can be learned of early disease from COPD studies and highlight the lack of inclusion of young smokers (who may be at risk of COPD) or those with mild disease. We discuss promising clinical measures that are being used in an effort to detect early disease. These include symptom assessment, lung physiology measures and computed tomography (CT) imaging modalities. There is emerging evidence for the role of neutrophils and their proteinases in early COPD. This may form an important biomarker to investigate the pathophysiological processes of early COPD. Given the importance of the early disease, it is recommended that future COPD studies focus on capturing the earliest manifestations of disease, to understand the initiating mechanisms and to identify novel treatment targets.

Diagnostic Conundrum of Progressive Pallor and Hepatosplenomegaly in a Toddler

Progressive pallor with hepatosplenomegaly is an alarming constellation of signs in children indicating a serious, ongoing disease process which has to be investigated for. Anemia and hepatosplenomegaly can be caused by a wide spectrum of conditions ranging from benign to life-threatening ones. We report the case of a 4-year-old child who presented with progressive pallor and hepatosplenomegaly along with diagnostic approach and review of literature. The child was diagnosed to have Gaucher disease.

The Tale of a Diagnostic Conundrum

The Tale of a Diagnostic Conundrum

Calcitonin-secreting neuroendocrine neoplasms of the lung: a systematic review and narrative synthesis.

Calcitonin-secreting neuroendocrine neoplasms of the lung are rare, with few cases reported in the literature. Differentiating between medullary thyroid carcinoma and an ectopic source of calcitonin secretion can represent a complex diagnostic conundrum for managing physicians, with cases of unnecessary thyroidectomy reported in the literature. This manuscript reports a case of ectopic hypercalcitonaemia from a metastatic neuroendocrine neoplasm of the lung with concurrent thyroid pathology and summarises the results of a systematic review of the literature. Medical Literature Analysis and Retrieval System Online, Excerpta Medica, Cochrane Central Register of Controlled Trials, ClinicalTrials.gov and SCOPUS databases were systematically and critically appraised for all peer reviewed manuscripts that suitably fulfilled the inclusion criteria established a priori. The protocol for this systematic review was developed according to the Preferred Reporting Items for Systematic review and Meta-Analysis Protocols, and followed methods outlined in The Cochrane Handbook for Systematic Reviews of Interventions. This systematic review is registered with PROSPERO. It is vital to consider diagnoses other than medullary thyroid carcinoma when presented with a patient with raised calcitonin, as it is not pathognomonic of medullary thyroid carcinoma. Lung neuroendocrine neoplasms can appear similar to medullary thyroid carcinoma histologically, they can secrete calcitonin and metastasize to the thyroid. Patients with medullary thyroid carcinoma may show stimulated calcitonin values over two or more times above the basal values, whereas calcitonin-secreting neuroendocrine neoplasms may or may not show response to stimulation tests. The present review summarises existing evidence from cases of ectopic hypercalcitonaemia to lung neuroendocrine neoplasms.

Episodic Myocardial Injury: Consider Desmoplakin Cardiomyopathy!

<h3>Introduction</h3> Recurrent myopericarditis, characterized by repeated episodes of pericardial and myocardial inflammation, can be a diagnostic conundrum. We present one such case ultimately found to have a desmoplakin (DSP) gene mutation. <h3>Case Report</h3> Our patient was a previously well adolescent male with a several year history of episodic chest pain and significant troponin elevation. He had mild left ventricular (LV) systolic dysfunction by echocardiography, with no ventricular dilation, pericardial effusion or valvar dysfunction. He had intermittent ventricular bigeminy. Coronary arteries were normal. Cardiac MRI revealed late gadolinium enhancement involving the anterior and lateral LV walls and interventricular septum. Myocardial biopsy revealed patchy interstitial fibrosis. Genetic testing revealed a likely pathogenic DSP mutation, c.123C>G (p.Tyr41*), predicted to cause loss of normal protein function. The variant is uncommon in the general population and several downstream nonsense variants have been associated with cardiomyopathy, supporting pathogenicity. <h3>Summary</h3> DSP is an essential protein in desmosomes, intercellular complexes responsible for maintaining cell-cell adhesion. Desmosomal mutations can cause arrhythmogenic cardiomyopathy, in which cardiac myocytes undergo fibroadiposis resulting in ventricular dysfunction, arrhythmias and sudden death. New evidence supports that DSP mutations can cause an inflammatory phenotype distinct from typical arrhythmogenic cardiomyopathy, characterized by predominant LV involvement, recurrent episodes of myocardial injury and fibrosis preceding systolic dysfunction. Our patient fits the novel description of DSP cardiomyopathy. His management plan includes reverse remodeling agents, surveillance for arrhythmia and cardiac dysfunction, restriction from competitive sports, and cascade genetic screening. Our case highlights the role of cardiomyopathy/arrhythmia genetic panels in patients with recurrent, unexplained myocardial inflammation.

Spontaneous Thrombosis of Varicocele: a Diagnostic Conundrum for an Acute Scrotum

Spontaneous thrombosis of varicocele is an extremely rare cause of acute scrotal swelling. Herein, we report a case of same in a young adult serving soldier ofIndian army who presented to the emergency department with a history of sudden onset left scrotal swelling of 2 days duration. There was no history of trauma. All his haematological and biochemical parameters were normal except elevated hepatic enzymes alanine aminotransferase (ALT) and aspartate aminotransferase (AST). The diagnosis was clinched on colourdoppler flow imaging (CDFI) and ultrasonography (USG) of the testis and scrotum. He was managed conservatively with complete clinical and radiological resolution within 2 weeks.

Evaluation of Peritoneal Deposits in Undiagnosed Ascites by Advanced Endoscopic Ultrasound Imaging Techniques

AbstractEtiology of ascites can be usually determined with ascitic fluid cytological and biochemical evaluation. Occasionally, the cause of ascites cannot be determined despite repeated ascitic fluid evaluations. These patients with undiagnosed ascites usually undergo diagnostic laparotomy/laparoscopy for etiological diagnosis. Endoscopic ultrasound (EUS) can help in resolving the diagnostic conundrum of undiagnosed ascites by visualizing as well as sampling peritoneal and omental deposits/thickening. However, rarely fine-needle aspiration from deposits may be falsely negative and patient may need repeat sampling. Newer EUS imaging techniques such as elastography and contrast-enhanced harmonic EUS by providing additive information on stiffness and enhancement pattern of the lesion can help in differential diagnosis.

Multidisciplinary Recommendations Regarding Post-Vaccine Adenopathy and Radiologic Imaging: Radiology Scientific Expert Panel.

Vaccination-associated adenopathy is a frequent imaging finding after administration of COVID-19 vaccines that may lead to a diagnostic conundrum in patients with manifest or suspected cancer, in whom it may be indistinguishable from malignant nodal involvement. To help the medical community address this concern in the absence of studies and evidence-based guidelines, this paper offers recommendations developed by a multidisciplinary panel of experts from three of the leading tertiary care cancer centers in the United States. According to these recommendations, some routine imaging examinations, such as those for screening, should be scheduled before or at least 6 weeks after the final vaccination dose to allow for any reactive adenopathy to resolve. However, there should be no delay of other clinically indicated imaging (e.g., for acute symptoms, short-interval treatment monitoring, urgent treatment planning or complications) due to prior vaccination. The vaccine should be administered on the side contralateral to the primary or suspected cancer, and both doses should be administered in the same arm. Vaccination information (date(s) administered, injection site(s), laterality, and type of vaccine) should be included in every pre-imaging patient questionnaire, and this information should be made readily available to interpreting radiologists. Clear and effective communication between patients, radiologists, referring physician teams and the general public should be considered of the highest priority when managing adenopathy in the setting of COVID-19 vaccination.SummaryCOVID-19-vaccination–related adenopathy is a frequent imaging finding that may lead to a diagnostic conundrum in patients with manifest or suspected cancer, in whom it may be indistinguishable from malignant nodal involvement. This special report offers recommendations developed by a multidisciplinary panel of experts from three of the leading tertiary care cancer centers in the United States.

Peritoneal Tuberculosis as a Final Result of Diagnostic Conundrum: A Case Report

Peritoneal tuberculosis is a disease which can mimic malignancy especially in women present with ascites andelevated CA125 levels. It always should be considered in the differential diagnosis. Peritoneal tuberculosiswith ambiguous patient symptoms and diagnostic difficulties still poses a great challenge in clinical practice.A 33 years old woman was admitted to hospital with complaints of abdominal pain and shortness of breath.Initially, elevated serum antigen CA-125, ascites, pleural effusion, and multiple suspicious nodules in thelungs and abdominal cavity on CT were found, thus, diagnosing advance stage ovarian cancer. Biopsylaparotomy was performed, and post-operative histological examination was peritoneal tuberculosis. Thepatient was treated with first-line antituberculosis agents and discharged home. Almost in all other cases,peritoneal tuberculosis is diagnosed only after surgical intervention.

Repetitive Eye Poking in an Infant — A Diagnostic Conundrum

Repetitive Eye Poking in an Infant — A Diagnostic Conundrum

Diagnostic Conundrum in Intestinal Obstruction; Malrotation in Elderly

Congenital intestinal malrotation is an anomaly of intestinal rotation and fixation which occurs during fetal development. It is rare for a malrotation to be present in adulthood. Indeed, most adult patients are asymptomatic and are later discovered incidentally during operation for other clinical conditions. Here we presented a case of malrotation in a 79-year-old elderly man presented with intermittent colicky abdominal pain, obstipation and vomiting for 2 days. Abdominal examination revealed distended abdomen, tenderness at right upper abdominal quadrant and peritonism. A contrast-enhanced computed tomography scan of the abdomen showed small bowel malrotation with suspected volvulus. The patient underwent exploratory laparotomy in which the intraoperative findings were small bowel malrotation, tight Ladd's band and midgut volvulus on top of perforated gallbladder empyema. The patient also underwent cholecystectomy, release of Ladd's band, re-rotation of the bowel, fixation of caecum to the left lower quadrant and appendicectomy. A complete recovery and relief of gastrointestinal symptoms were achieved postoperatively.

Multiple Lower Cranial Nerve Palsies Due to Nasopharyngeal Actinomycosis Masquerading as a Tumour - A Diagnostic Conundrum.

Multiple Lower Cranial Nerve Palsies Due to Nasopharyngeal Actinomycosis Masquerading as a Tumour - A Diagnostic Conundrum.