Diagnostic Conundrum Research Articles

Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship – a case report

BackgroundLate-onset type II Bartter syndrome is an exceedingly rare condition, with only six documented cases presenting symptoms and signs beyond infancy. We report a unique case of late-onset type II Bartter syndrome with an atypical presentation and clinical course following chemotherapy treatment during childhood.Case presentationA 10-year-old boy, diagnosed with hepatoblastoma at age 2 and treated with cisplatin and epirubicin, presented with polyuria, polydipsia, failure to thrive, and electrolyte imbalances. He exhibited hypokalemia, metabolic alkalosis, and elevated urinary excretion of sodium, chloride, calcium, and magnesium. Whole exome sequencing and Sanger sequencing identified compound heterozygous variants in the KCNJ1 gene, confirming the diagnosis of type II Bartter syndrome. The patient’s clinical presentation was distinct from previously reported cases, with an absence of nephrocalcinosis, unusually small and hyperechoic kidneys, and a substantial decline in kidney function. Treatment included oral potassium supplementation, spironolactone, and angiotensin-converting enzyme inhibitors.ConclusionsThis case highlights the importance of considering late-onset Bartter syndrome in patients with a history of chemotherapy presenting with persistent electrolyte imbalances and ongoing renal dysfunction. The atypical features and rapid progression of chronic kidney disease in this patient may be attributed to the deleterious nature of the identified variants and the potential impact of previous chemotherapy on kidney susceptibility to damage. Careful monitoring and management of electrolyte imbalances and renal function are crucial in such cases.

Navigating Uncharted Territory: High-Grade B-Cell Lymphoma Coexisting with Warthin Tumor – Lessons Learned from an Unusual Encounter

Abstract Introduction/Objective High-grade B-cell lymphomas (HGBCL) coexisting with Warthin tumors (WT) are infrequently encountered, yet each case offers valuable insights. This introduction sets the stage by highlighting the rarity of such occurrences and emphasizing the importance of thorough evaluation in diagnosing and managing salivary gland neoplasms. Methods/Case Report We present the case of a 78-year-old man with longstanding bilateral parotid gland masses, initially presumed to be benign WT based on prior biopsies. However, surgical intervention unmasked a surprising twist – concurrent presence of HGBCL within the WT. This rare juxtaposition posed a diagnostic and management conundrum, underscoring the importance of thorough evaluation and consideration of atypical presentations. Pathological examination revealed a landscape of large-sized cells with aberrant expression profiles, including CD20, Pax-5, BCL2, and MUM-1 positivity, along with a MYC rearrangement. Despite the rarity of this phenomenon, the case serves as a poignant reminder of the necessity for comprehensive assessment in seemingly benign conditions. Results (if a Case Study enter NA) N/A Conclusion By dissecting this unique encounter, we glean invaluable lessons in diagnostic vigilance, emphasizing the need for heightened awareness and multidisciplinary collaboration in the management of salivary gland neoplasms. This case underscores the significance of recognizing unusual presentations and leveraging them to refine diagnostic and therapeutic approaches, ultimately enhancing patient outcomes and guiding future clinical practice.

Jingle Bells: Bladder Cancer and Rare Endocardial Metastases, An Unexpected Early Recurrence and Diagnostic Conundrum.

Jingle Bells: Bladder Cancer and Rare Endocardial Metastases, An Unexpected Early Recurrence and Diagnostic Conundrum.

Digital Gangrene and Cutaneous Infarct in an Elderly Lady: A Diagnostic Conundrum

Digital Gangrene and Cutaneous Infarct in an Elderly Lady: A Diagnostic Conundrum

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) or Paraneoplastic Syndrome: A Diagnostic Conundrum

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) or Paraneoplastic Syndrome: A Diagnostic Conundrum

Comparison of tear Matrix Metalloproteinase 9 (MMP-9) estimation with Schirmer's test in Ocular Surface Disorders.

Ocular surface disorder (OSD) is a vexed eye problem and a diagnostic conundrum. Diagnosis has traditionally depended upon symptoms and tests like Schirmer's, TBUT, staining with dyes, and tear meniscus height. Schirmer's test is the most popular. However, the test strips irritate with reflex tearing - producing false high results. Matrix Metalloproteinase 9 (MMP) in the tear is believed to be expressed by stressed epithelial cells of the corneal surface - a key pathology in dry eye disease. This study attempts to compare the results of Schirmer's test and MMP-9 so that the test can individually or severally add to a more definite diagnosis of dry eye disease. 100 eyes of 50 symptomatic patients underwent MMP-9 estimation and were divided into two groups (MMP-9+ve and MMP-9-ve). They were then sub-grouped as per DEWS-2007 based on Schirmer test levels and Ocular Symptomatology Score (OSS). The two groups were compared for severity of dry eye based on Schirmer's test and OSS. Mean Schirmer's value was 12.85 (SD 7.07) for MMP-9+ve and 19.18 (SD 8.94) for MMP-9-ve patients. 80% of patients with severe dry eye and 55.6% of moderate dry eye patients were positive for MMP-9. 85% of the MMP-9 patients had OSS values of 2 or 3. A higher OSDI and positive MMP-9 were shown to be correlated in a statistically remarkable way (p<0.001). The OSDI values of 0-12 for 3/44 (6.8%) positive results, 13-22 for 2/8 (25%) positive results, 23-32 for 4/14 (28.6%) positive results, and 33-100 for 13/35 (37.1%) positive results all showed an increase in MMP-9 positivity along with a rise in the subjective severity of the illness. MMP-9 compares well with Schirmer's values and DED categories based on Schirmer's. The result pointed towards the usefulness of this test in diagnosing patients who may have not yet manifested symptoms.

6925 A Rare Case of Metastatic Papillary Thyroid Carcinoma Confined to Cervical Lymph Node with No Identifiable Primary Tumor In The Thyroid Gland. A Diagnostic Conundrum

Abstract Disclosure: R. Abdelmasih: None. W. Pan: None. Introduction: Papillary thyroid carcinoma (PTC) is the most common treatable thyroid cancer (TC) with very good prognosis. Metastatic PTC either in the lymph node LN or extra-nodal with no primary thyroid lesion identified is a rare phenomenon referred to as occult thyroid carcinoma (OTC). Despite its rarity, it is reported and constitute a diagnostic conundrum. herein we present a case of metastatic PTC identified in cervical lymph nodes (LN) without a primary tumor in the thyroid gland confirmed with surgical pathology. Case Presentation: A 43-year-old female with history of post-ablative hypothyroidism after treatment of toxic nodular goiter for 10 years, with no family history of thyroid cancer presented with incidentally found left 1.8 Heterogeneous hypoechoic solid nodule with lobulated borders and internal calcifications along with left-sided 0.8 LN without normal fatty hilum on Ultrasound Head and Neck. Fine needle aspiration of the left thyroid nodule and suspicious LN revealed PTC in the left LN though the thyroid nodule sample was non-diagnostic. CT of head and neck showed partially calcified thyroid nodule, Hyperattenuating 8 mm left III LN without fatty hilum, and 9 mm left II calcified LN. Patient underwent total thyroidectomy, central neck, and left lateral neck dissection. Surgical pathology showed no malignancy in thyroid gland or central LNs and 1 out 5 LN of the left neck dissection showed PTC with tumor grading of pT0 pN1b pMNA. patient underwent whole-body thyrogen-stimulated thyroid scan which showed iodine avid tissue in the thyroid bed followed by high-dose I-131 radioactive iodine ablation (RAI). Discussion: OTC refers to impalpable incidental TC less than 10 mm per the WHO. Boucek et al classify OTC into four categories, recently a fifth category was added, in which metastasis is confirmed either in regional LN or distant metastasis though thyroid tissue is confirmed to be benign per pathology and imaging evaluation, our patient falls in the fifth category. Hypothesis of this phenomenon is not well understood, one suggested explanation is missed diagnosis due to not enough sample or if lesion is less than 3 mm. another hypothesis is tumor spontaneous regression, or regression secondary to treatment that was inadequate to treat the systemic process of the tumor, which we believe our patient fits in this hypothesis, given that she underwent RAI ablation many years ago. Tumor regression is very rare and reported to be 1 in 140,000 cases. Another theory suggests that PTC can arise in ectopic thyroid tissue. This case is to shed light on a rare clinical and pathological entity to avoid missed diagnoses. Prognosis depends on the extent of metastasis, with favorable one when it is limited to regional LN and worse with distant metastasis. More cases reports are warranted to help guide further management of such cases due to the lack of available guidance in use of RAI surveillance and ablation. Presentation: 6/1/2024

8465 Diagnostic Conundrum: The Mystery of Metastatic Papillary Thyroid Cancer with Persistently Elusive Thyroglobulin

Abstract Disclosure: P. Vemparala: None. M. Bollineni: None. Introduction- Among endocrine malignancies, differentiated thyroid cancers account for the majority with most of them boasting a favorable prognosis. Thyroglobulin, a pivotal biochemical marker, aids in detecting recurrence or persistent disease when combined with neck ultrasound, I-131 scintigraphy, and FDG PET scans. Anti-thyroglobulin antibodies, found in a quarter of cases, can falsely lower serum thyroglobulin levels in immunometric assays. Our intriguing case features a patient with metastatic papillary thyroid cancer, yet thyroglobulin levels persistently eluded detection. CASE PRESENTATION- A 33-year-old female presented initially to an outside facility with neck swelling, leading to a diagnosis of a 4 x 3 cm papillary thyroid cancer (PTC) in the right lobe and a 0.5 x 0.5 cm focus of PTC in the left lobe, accompanied by capsular extension, malignant cells in the left lobe margin, and lymphovascular invasion. After total thyroidectomy and lymph node exploration, radioactive iodine scan detected disease in right-sided lymph nodes, treated subsequently with radioactive iodine ablation. Two years later, she presented to our clinic with neck swelling, voice changes, and fatigue. Thyroglobulin level was measured which returned at &amp;lt;0.1 ng/ml, however thyroglobulin antibodies were elevated at 292 IU/ml, albeit decreased from a value of 431.5 IU/ml at initial diagnosis. Elevated thyroglobulin antibodies complicated interpretation, prompting liquid chromatography-mass spectrometry (LC-MS) for accurate measurement of thyroglobulin, which returned at &amp;lt;0.5 ng/ml. Ultrasound indicated metastatic disease in right cervical lymph nodes, confirmed by fine needle aspiration. In-office ultrasound-guided FNA of additional nodes validated metastasis. Modified radical neck dissection revealed metastatic PTC in 7 out of 34 lymph nodes. Surprisingly, thyroglobulin levels remained &amp;lt;0.5 ng/ml, pre- and post-operatively. Referred for radioactive iodine ablation, her complex journey underscored the challenges in monitoring thyroid cancer recurrence or persistent disease with thyroglobulin levels even by methods such as mass spectrometry. Conclusion- Key learnings from this case highlight the importance of cognizance in utilizing thyroglobulin levels to guide adjuvant therapy decisions and for postoperative monitoring in high risk patients, as low levels do not rule out recurrence or persistence. Anti-thyroglobulin antibodies pose challenges, necessitating techniques like LC-MS. Finally, recognizing “nonsecretor” thyroid cancers, an aggressive subgroup with poorer prognosis, is vital as they often present with low or undetectable thyroglobulin levels. Presentation: 6/2/2024

Neuropsychological manifestation as an initial presentation of pediatric chronic myeloid leukemia: A case report of diagnostic conundrum and review of literature

Neuropsychological manifestation as an initial presentation of pediatric chronic myeloid leukemia: A case report of diagnostic conundrum and review of literature

Non-surgical Management of Uterine Torsion in Goat: A Report of Five Cases

Background: Uterine torsion is a relatively infrequent occurrence in goats, with reported incidence rates ranging between 1.8% to 2.0%. Accurate diagnosis of this condition poses a notable challenge due to inherent limitations associated with traditional palpation techniques, namely trans-rectal and trans-vaginal examinations. Moreover, the resemblance of clinical signs to incomplete cervical dilation compounds the diagnostic conundrum, necessitating more precise diagnostic modalities. Trans abdominal sonography has been introduced for diagnosis but is not considered completely reliable for confirming the condition. Laparohysterotomy is considered the treatment of choice. Besides, Modified Schaffer’s Method has also been used for the correction of torsion and has proven competent. Methods: Trans-vaginal examination for the diagnosis of the condition followed by correction using Modified Schaffer’s Method was attempted in every case. As per the circumstance, a mutation in necessary cases followed by forced extraction was attempted for the removal of the fetus. Result: The non-surgical detorsion approach proved effective, allowing transvaginal palpation of the fetus in the birth canal in all cases, relieving maternal discomfort from dystocia. Additionally, this method eliminated the need for laparohysterotomy, thus mitigating the risk to the goat.

Analytical validation of the LungLB test: a 4-color fluorescence in-situ hybridization assay for the evaluation of indeterminate pulmonary nodules

BackgroundEvaluation of indeterminate pulmonary nodules (IPNs) often creates a diagnostic conundrum which may delay the early detection of lung cancer. Rare circulating genetically abnormal cells (CGAC) have previously demonstrated utility as a biomarker for discriminating benign from malignant small IPNs in the LungLB assay. CGAC are identified using a unique 4-color fluorescence in-situ hybridization (FISH) assay and are thought to reflect early cell-based events in lung cancer pathogenesis and the anti-tumor immune response. LungLB is a prognostic tool that combines the CGAC biomarker and clinical features to aid in IPN evaluation by improving the stratification of patient risk of malignancy.MethodsHerein we describe the analytical performance of the LungLB blood test. Analytical validation was performed according to Clinical and Laboratory Standards Institute (CLSI) guidelines with adaptations for rare cell-based assays. Multiple operators, reagent lots, and assay runs were tested to examine accuracy, precision, reproducibility, and interfering factors.ResultsThe FISH probes used in the LungLB assay demonstrate 100% sensitivity and specificity for their intended chromosomal loci (3q29, 3p22.1, 10q22.3 and 10cen). LungLB demonstrates analytical sensitivity of 10 CGAC per 10,000 lymphocytes analyzed, 100% analytical specificity, and high linearity (R2 = 0.9971). Within run measurements across 100 samples demonstrated 96% reproducibility. Interfering factors normally found in blood (lipemia, biotin) and exposure to adverse temperatures (-20ºC or 37ºC) did not interfere with results. Sample stability was validated to 96 hours.ConclusionThe analytical performance of LungLB in this validation study successfully demonstrates it is robust and suitable for everyday clinical use.

Emphysematous liver abscess: Variable clinical presentations, management challenges and outcomes-a case series

Emphysematous liver abscesses (ELAs), characterized by the presence of gas within the hepatic parenchyma, are an uncommon and potentially lifethreatening entity. ELAs with clinical presentations mimicking hollow viscus perforation pose a diagnostic conundrum for clinicians. This series highlights the diagnostic challenges posed by such atypical presentations and emphasizes the importance of considering hepatic pathology in the differential diagnosis of pneumoperitoneum. Our objective is to provide a comprehensive analysis of the diverse clinical presentations, diagnostic challenges, and therapeutic strategies employed in managing this unique subset of liver abscesses.

Inherited platelet function disorders in children – A diagnostic conundrum solved by multimodality testing

Inherited platelet function disorders in children – A diagnostic conundrum solved by multimodality testing

True Aneurysm of Superficial Temporal Artery Presenting as Subcutaneous Scalp Swelling: A Diagnostic Conundrum in Two Cases

AbstractTrue aneurysms of the superficial temporal artery (STA) are very rarely encountered in clinical practice. Unlike pseudoaneurysms neither they have any preceding history of trauma nor are they associated with atherosclerosis or any other comorbid conditions. We hereby report two such cases, which according to our literature search are exceedingly rare. Two young patients presented with subcutaneous swelling of short duration in the scalp. They did not have any prior history of trauma or associated comorbidities. The only presenting symptom was headache with a pulsatile subcutaneous mass. Diagnostic workup revealed STA aneurysm in both the cases and they were managed with surgical excision of the aneurysm. Histopathology of the aneurysm wall revealed true aneurysm in both cases. True aneurysms of STA should be considered a differential diagnosis in patients with a scalp swelling along the course of the artery. Younger patients should be investigated further to look for any congenital predisposition or coexistent vascular lesion. Considering that it is a rare entity, a proper investigating protocol and surgery remains the key to their successful management.

Giant Cystic Pneumocytoma in a Young Male: Rare Diagnostic Conundrum with Clinicoradiological and Histopathological Features

AbstractPulmonary sclerosing pneumocytoma is a rare benign neoplasm typically seen in middle-aged women. The exact preoperative diagnosis is quite challenging considering its nonspecific clinical and radiologic features along with complex histology. Moreover, obtaining an exact histopathological diagnosis can be difficult especially with the small biopsy specimens. Most patients are generally asymptomatic with incidental detection of peripheral, homogenous, solitary pulmonary nodule. It is essential to differentiate it from other mimickers including malignant lesions as limited surgical resection is curative in these cases without adjuvant therapy. We present a rare giant cystic variant of pneumocytoma, in a young male, which was initially mimicking inflammatory myofibroblastic tumor even on preoperative histology.

Erdheim-Chester disease: a rare renal phenotype and diagnostic conundrum.

Erdheim-Chester disease: a rare renal phenotype and diagnostic conundrum.

Primary Breast Sarcoma: A Diagnostic Conundrum

Primary Breast Sarcoma: A Diagnostic Conundrum

Case of the Season: Hemorrhagic Renal Cyst Mimicking a Cystic Renal Neoplasm

An 81-year-old male with a history of chronic kidney disease, prostatic adenocarcinoma, metastatic melanoma, and Waldenström macroglobulinemia presented with acute kidney injury and dysuria. Initial renal ultrasound revealed a complex left renal cystic lesion, which was subsequently followed up on magnetic resonance imaging (MRI). Its complex appearance coupled with apparent nodularity suggested a cystic renal cell carcinoma; however, subsequent MRI revealed that active hemorrhage explained the complex appearance. A hemorrhagic renal cyst can be a diagnostic conundrum in such a scenario and should be considered in the differential diagnosis.

Intradural Melanotic Schwannoma of the Sacral Spine: An Illustrated Case Report of Diagnostic Conundrum

Schwannomas are benign and slow-growing peripheral nerve sheath neoplasms of Schwann cells. These are generally encountered in the neck, head, and flexor areas of the extremities. Even though many schwannomas are easily diagnosable, their variable morphology can occasionally create difficulty in diagnosis. In this study, we present a rare case of melanotic schwannoma of the sacrum, emphasizing the need for routine biopsy to understand the etiology. A 46-year-old man presented to the Department of Neurosurgery, Taipei Medical University Hospital, with buttock pain in the sacrum area for 1 year, which worsened in the last 1–2 months. The patient had no known history of trauma or malignancy. We evidenced an intradural extramedullary neurogenic tumor at the caudal end from S1 to S3. Histologic analysis revealed melanin deposition in the tumor cells. Round to oval tumor cells were positive for HMB-45 and S-100 proteins, suggestive of melanotic Schwannoma, which were removed by laminectomy. After 1 month, the tumor recurred and was further removed surgically. Conclusively, we observed the sacrum as an unusual anatomic site for the possible occurrence of melanotic schwannoma, especially in patients with no known history of trauma and malignancy. The possibility of melanotic schwannoma is very high. We hypothesize that melanotic schwannoma was possible because it occurred in the intradural and extramedullary regions of the spine. Hence, a routine biopsy should be performed to corroborate the exact cause and prevent incorrect presumptions.

Diagnostic conundrum of Superficial CD34-positive fibroblastic tumor (SCPFT): a series of five cases

Diagnostic conundrum of Superficial CD34-positive fibroblastic tumor (SCPFT): a series of five cases