Diagnostic Dilemma Research Articles

Right renal mass, a rare disease and diagnostic dilemma in a young female

A 22-year-old female from Afghanistan presented with history of pain right lumbar region along with feeling of heaviness and weight loss. The abdominal examination revealed a mass approximately 10*10 cm in the right lumbar region which was bimanually palpable. The diagnosis of Right lumbar mass was made on ultrasound. Final CT scan confirmed its origin from right kidney along with metastasis in lung. The ultrasound guided biopsy turned out to be spindle cell tumour of kidney. Right sided nephrectomy along with removal of proximal ureter done. Histopathology confirmed the diagnosis of mesenchymal chondrosarcoma of right kidney. Postoperative outcome of patient was uneventful.

Wandering Fibroid Presented as Acute Abdomen: A Rare Case with Diagnostic Dilemma

Wandering Fibroid Presented as Acute Abdomen: A Rare Case with Diagnostic Dilemma

Diastasis coronal suture fracture with frontoparietal (vertex) epidural hematoma in adult

Introduction: Vertex epidural hematoma (VEDH) is an uncommon presentation of extra-axial hematomas and comprises 1-8% of all extradural hematomas. It can represent a surgical dilemma regarding when and how to operate, particularly considering the potential implication of the superior sagittal sinus (SSS). It is estimated that up to 85%-95% of EDHs are associated with skull fractures. Nonetheless, diastasis of cranial sutures in adults has scarce scientific reports, let alone with associated epidural hematoma. Cases: We reported a 42-year-old male patient who came with a main complaint of a lacerated wound on his head due to an accident when he repaired the truck tire. His GCS score was 15 without any neurological deficit. A Head CT scan revealed a hyperdense biconvex lesion on the frontoparietal (vertex), frontal sinus depressed fracture and diastasis fracture of the coronal suture. Craniotomy evacuated EDH and craniectomy elevated depressed fracture with cranialization of frontal sinus were performed. Postoperative there is no surgery complication. Discussion: Vertex epidural hematoma (VEDH) frequently causes a diagnostic dilemma, both clinically and radiographically. Clinically, VEDH are often indicated by elevated intracranial pressure (a headache which is usually severe and unrelenting, nausea, visual impairment, and vomiting). Those resulted from compression of the venous outflow at the SSS and subsequently decreased absorption and outflow of cerebrospinal fluid (CSF), which may not contribute to the establishment of a specific diagnosis. Vertex fractures are present in most cases with a linear fracture line crosses (usually horizontally) the sagittal suture overlying the hematoma or diastasis of the coronal and/or sagittal suture, with or without significant external sub-galeal hematomas, indicating a vertex impact. Conclusion: Vertex epidural hematoma is a rare case. In this case, the patient had GCS score 15 without any neurological deficit. The prompt decision to surgery is vital for good outcomes for the patient with VEDH.

Atypical chondroblastoma of the distal femur with exophytic mass: A rare presentation and diagnostic dilemma

Chondroblastoma is a benign epiphyseal chondromatous lesion typically seen as a small, well-defined, eccentric epiphyseal lesion with thin rim of surrounding bone sclerosis. Soft tissue extension, metaphyseal involvement, periosteal reaction, cortex breach though not pathognomonic, are reported in literature. We present a case report of a patient with chondroblastoma showing atypical radiological presentation with exophytic mass in order to give reader a perspective on atypical radiological features and corroborating these finding intraoperatively and on histopathology.

A rare case of Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterised by oculocutaneous albinism, a bleeding diathesis and platelet storage deficiency. Aim of this paper is to report a case of patient with HPS who was followed over a decade. A 2-and-a-half-year-old boy presented with recurrent respiratory tract infections and global developmental delay. On examination, he had light golden hair, grey iris with nystagmus, fundus hypo-pigmented fovea and white macules all over body. Also found to have neutropenia without granules on peripheral smear. HPS can often be diagnostic dilemma mimicking disorders like Chediak-Higashi syndrome (CHS), in this case diagnosis was made due to characteristic skin and hair hypopigmentation and ocular findings along with bleeding diathesis. Our patient categorised under HPS2 subtype which has mild immunodeficiency. HPS is usually associated with neutropenia and hence pyogenic infections, present case however was associated with advanced form of pulmonary tuberculosis-miliary TB and granulomatous TB lymphadenitis giving rise to the possibility of T-cell defect.

Stiff Person Syndrome Mimicking as Atypical Parkinson’s Disease - A Diagnostic Dilemma

Stiff person syndrome (SPS) is a rare neurological disorder characterized by stiffness and spasm of the truncal muscles and subsequent postural deformities. In this report, we present a case of a woman in her early 60s who presented to us with muscle stiffness, back pain, and frequent falls. On examination, she was found to have increased muscle tone and mild tremors. Given her age and presentation, a provisional diagnosis of Atypical Parkinson’s was made. Patient was treated with Diazepam. Because of presence of autoimmune co-morbid conditions, anti-glutamic acid decarboxylase (GAD) antibodies were tested, which were positive, and thus, diagnosis of SPS was made. Treatment with Diazepam was continued, and her symptoms significantly improved. Even though SPS is a rare disorder, our case report highlights the need to keep it in differential diagnoses when an elderly patient presents with stiffness and postural instability, as treatment for SPS and atypical Parkinson’s vary considerably.

Testicular schistosomiasis: a clinico-pathological presentation of three pediatric cases and review of literature

Schistosomiasis is an important communicable disease in developing countries and an important cause of morbidity in the tropics and subtropics. It is a very rare cause of painless testicular swelling that tend to mimic malignancy and cause a diagnostic dilemma. Though histopathologic analysis confirms diagnosis, a high index of suspicion is required especially for patients presenting from endemic areas. We aim to present the clinicopathological features of three pediatric cases of Testicular Schistosomiasis (TS) and to highlight the role of high index of suspicion, incisional biopsy and histopathologic diagnosis in prevention of unwarranted orchiectomy and preservation of testicular function. We report three cases of TS in patients aged 5 years, 12 years and 14 years, who presented with progressive testicular swellings. The diagnoses were made by histopathological analysis and the patients were treated with oral praziquantel. TS should always be considered an important differential in all male children and adults presenting with testicular masses especially when they live in endemic regions. Incisional biopsy, proper histopathologic evaluation and treatment could prevent unwarranted orchiectomy and thus preserve testicular function.

ROLE OF MAGNETIC RESONANCE IMAGING IN EVALUATION OF UTERINE PATHOLOGIES AND ITS CORRELATION WITH ULTRASOUND

Objective: Uterine pathologies, both benign and malignant, are common among reproductive age females and postmenopausal females. Herein, we aim to assess the role of magnetic resonance imaging (MRI) in the evaluation of uterine pathologies and to correlate them with ultrasonographic findings (USG). Methods: We conducted a prospective study in the Department of Radiodiagnosis at Government Medical College and Rajindra Hospital, Patiala. It included 45 females who were referred from department of obstetrics and gynecology with clinical suspicion of uterine pathologies. All the patients underwent both USG and MRI, results were compiled and statistical tests applied. Results: The mean (±SD) age of patients was 38.9±10.8 years. About 82% of the females were premenopausal. Nineteen females were diagnosed with fibroids, nine had adenomyosis, and two patients had endometrial polyps. Five of each were histopathologically proven cases of cervical and endometrial carcinoma. Four patients were diagnosed with Mullerian anomalies. MRI could diagnose more number of fibroids and in more number of patients. On USG, adenomyosis was falsely diagnosed in one patient and was reported as normal in one other patient. In cases of endometrial carcinoma, myometrial invasion was better predicted through MRI. Similarly, in cases of cervical carcinoma, parametrial extension was underdiagnosed by USG alone. MRI detected bicornuate bicollis uterus and septate uterus in two cases each. Very good correlation was observed between the USG and MRI findings with Kappa coefficient of 0.823 (p<0.001). Conclusion: MRI is the radiological imaging of choice in patients with suspected uterine pathologies and correlates well with USG. Therefore, USG and MRI should be combined together in case of diagnostic dilemma for better decision-making and patient management

A diagnostic dilemma and how it turned out to be ocular toxocariasis

No abstract available

Tumefactive demyelinating lesions versus CNS neoplasms, a comparative study

BackgroundDifferentiating tumefactive demyelinating lesions (TDL) from neoplasms of the central nervous system continues to be a diagnostic dilemma in many cases. ObjectiveOur study aimed to examine and contrast the clinical and radiological characteristics of TDL, high-grade gliomas (HGG) and primary CNS lymphoma (CNSL). MethodThis was a retrospective review of 66 patients (23 TDL, 31 HGG and 12 CNSL). Clinical and laboratory data were obtained. MRI brain at presentation were analyzed by two independent, blinded neuroradiologists. ResultsPatients with TDLs were younger and predominantly female. Sensorimotor deficits and ataxia were more common amongst TDL whereas headaches and altered mental status were associated with HGG and CNSL. Compared to HGG and CNSL, MRI characteristics supporting TDL included relatively smaller size, lack of or mild mass effect, incomplete peripheral rim enhancement, absence of central enhancement or restricted diffusion, lack of cortical involvement, and presence of remote white matter lesions on the index scan. Paradoxically, some TDLs may present atypically or radiologically mimic CNS lymphomas. ConclusionCareful evaluation of clinical and radiological features helps in differentiating TDLs at first presentation from CNS neoplasms.

Hydrothorax and air fluid levels in the right chest – a diagnostic dilemma

Hydrothorax and air fluid levels in the right chest – a diagnostic dilemma

A serendipitous encounter in a twist of fate from the spine to the heart

Incidental findings are common in medicine and often lead to diagnostic and management dilemmas. Myxomas the most prevalent benign tumors can be incidentally diagnosed in almost 20% of cases. Here, we are presenting a case where a patient’s fate changed from spinal disease to cardiac disease. A 60-year-old female presented with excruciating low back pain and was diagnosed with degenerative lumbar spine disease, planned for laminectomy. She was referred to the cardiology opinion regarding perioperative cardiac risk. On echocardiography, a 6.2 cm2 sessile mass attached to the interatrial septum was found, and a probable diagnosis of sessile left atrial myxoma was made. The same was confirmed on cardiac computed tomography. The patient was operated on and had no complications. Histopathology confirmed atrial myxoma.

Diagnostic and therapeutic dilemmas in a patient with myocarditis, Brugada syndrome and arrhythmic syncope.

We present a case of a previously healthy 23-year-old male who presented with chest pain, palpitations and spontaneous type 1 Brugada electrocardiographic (ECG) pattern. Positive family history for sudden cardiac death (SCD) was remarkable. Initially, clinical symptoms in combination with myocardial enzymes elevation, regional myocardial oedema with late gadolinium enhancement (LGE) on cardiac magnetic resonance (CMR) and inflammatory lymphocytoid-cell infiltrates in the endomyocardial biopsy (EMB) suggested the diagnosis of a myocarditis-induced Brugada phenocopy (BrP). Under immunosuppressive therapy with methylprednisolone and azathioprine, a complete remission of both symptoms and biomarkers was accomplished. However, the Brugada pattern did not resolve. The eventually spontaneous Brugada pattern type 1 established the diagnosis of Brugada syndrome (BrS). Due to his previous history of syncope, the patient was offered an ICD that he declined. After his discharge he experienced a new episode of arrhythmic syncope. He was readmitted and received an ICD.

Rare Case of Squamous Cell Carcinoma of Midline Dorsum of Tongue: Diagnostic and Management Dilemma.

Squamous cell carcinoma is the most common carcinoma of the tongue. However, the majority of carcinoma originates in the lateral border of the tongue and midline dorsum only represents about 2-5% of tongue cancer patients. We present a rare case of squamous cell carcinoma in a 59 years old male patient originating in the midline dorsum of tongue and the management dilemma.

Double left atrial appendage: A diagnostic dilemma.

We report a unique intraoperative finding of an additional double left atrial appendage (LAA) during an arterial switch operation with ventricular septal defect closure in a 4-month-old girl. Immediately after the procedure, a prolapsing mass within the left atrium (LA) on the transesophageal echocardiogram raised concerns of a possible thrombus. The LAA was clearly visible with a pressure monitoring line which was put intraoperatively. To investigate further, cardiopulmonary bypass was resumed, and the heart was arrested and explored. There was an appendage-like structure, separate from the one that had the pressure monitoring line, which was inverted inside. It was pulled out from outside clearly establishing a double LAA. This report illustrates an example of a diagnostic dilemma caused by a double atrial appendage which was invaginated into LA masquerading as a mass or thrombus.

Diagnostic Utility of Pleural Fluid Cytology versus Cell Block Technique: A Comparative Study

Introduction: Categorization between benign and malignant pleural effusions most often create diagnostic dilemma. Categorization often requires clinical findings and morphological evaluation. Diagnostic possibility is increased if cell blocks are performed in addition to conventional cytology smears. This will help the clinicians in both treating the patient and determining the outcome of the disease process.
 Aims: The aim of this study was to compare the smears cytology with cell blocks sections in pleural effusions.
 Methods: This hospital-based cross sectional analytical study was carried out in Department of Pathology in Nepalgunj Medical College, Nepalgunj for one year.
 Results: The four criteria scored for each technique were amount of background blood, yield of diagnostic cellular material, degree of cellular degeneration as well as cellular trauma and architectural preservation. More amount of diagnostic material present and appropriate retention of architecture was more in cell block sections compared with smears cytology; whereas cellular degeneration as well as cellular trauma and background blood was less appreciated in cell block sections which scored more than the smears cytology.
 Conclusion: Cell block method especially in clinically, radiologically and cytologically suspected malignant cases should be routinely processed for cell block method.

Usefulness of attenuation value on computed tomography plain scan for diagnosing enlarged mediastinal lymph nodes metastases.

To evaluate the diagnostic value of computed tomography (CT) attenuation in mediastinal lymph node metastases of malignant tumors. A retrospective review was conducted of a Chinese institutional database of consecutive patients with a history of malignant tumors. Those who had enlarged, necrotic, or hypermetabolic lymph nodes detected in the mediastinum during routine CT examination or positron emission tomography (PET)/CT imaging from January 2019 to December 2021 were collected for investigation. All patients underwent endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) and were followed up for at least 6 months to diagnose lymph node metastases. One-to-one correlation was attempted between the CT images of the lymph nodes and EBUS-TBNA area of the same lymph node groups and similar size. Radiologists measured size, as well as plain CT and contrast-enhanced CT (CECT) attenuation values of mediastinal lymph nodes, and evaluated the effectiveness of these variables in diagnosing lymph node metastasis. A total of 135 lymph nodes of 114 patients were included in the study. In the univariate analysis, the long-axis diameter, short-axis diameter, short-axis/long-axis ratio, and plain CT attenuation values of lymph nodes were found to be statistically significantly different between the metastatic and non-metastatic lymph nodes. The areas under receiver operator characteristic (ROC) curves (AUCs) of long-axis diameter, short-axis diameter, short-axis/long-axis ratio, and plain CT attenuation value for diagnosing metastases were 0.711, 0.788, 0.671, and 0.827, respectively. The best value of the AUC for diagnosing lymph node metastases was 0.827 [95% confidence interval (CI): 0.749-0.890] using plain CT attenuation value ≤45 Hounsfield units (HU). The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were 92.8%, 69.2%, 86.5%, and 81.8%, respectively. Similar results were obtained from the 68 cases of lung cancer. Plain CT attenuation values reached the best AUC (0.860) for diagnosing lymph node metastases. Plain CT attenuation of lymph nodes is an effective method for diagnosing enlarged mediastinal lymph nodes with a history of multiple malignancies or lung cancer. Plain CT could be used as an additional test where there is no PET/CT available in cases of diagnostic dilemma.

Gestational trophoblastic neoplasia with concurrent metastasis to the mother and child: a systematic literature review.

Gestational trophoblastic neoplasia (GTN) arising in the placenta and presenting as a metastatic disease concurrently in the mother and the baby is extremely rare. GTN poses a diagnostic dilemma to the treating clinicians. In the current review, an electronic search of Scopus, PubMed, Embase and other databases was conducted for case reports and case series of GTN co-existing or metastatic to both the mother and the baby, published to date. Globally, a total of twenty-two cases of GTN with metastasis to both the mother and baby was found. The previous history of histopathology confirmed molar pregnancy was present in 4/22 cases. The median time to diagnose GTN in the mother was six weeks post-partum. In the majority of cases, diagnosis of maternal disease was made after the infant presented with clinical manifestation. Overall survival was reported in 17/22 mothers up to varying latest follow-up and in 6/22 infants. A knowledge of the varied clinical presentation, eliciting a history of previous pregnancy loss/term pregnancy and serum beta human chorionic gonadotrophin (β-hCG) estimations were helpful for early diagnosis. The concurrent presence of GTN in the mother and baby is a rare entity and poses a diagnostic dilemma. Diagnosis in the mother often follows diagnosis in the baby after an infant presents with clinical manifestations. GTN is a highly chemo-sensitive tumour, but the main prognostic factors determining survival are the time to diagnosis following previous pregnancy and serum β-hCG levels.

Diagnostic utility of Risk of Malignancy Index in differentiation of benign from malignant ovarian masses

Background: Women with adnexal masses still pose a diagnostic dilemma and require efficient triaging. The Risk of Malignancy Index (RMI) is an algorithm used for differentiation of malignant from benign ovarian masses. Aims and Objectives: The present study aimed to evaluate the four indices RMI 1, RMI 2, RMI 3, and RMI 4 to discriminate a malignant ovarian tumor from a benign one. Materials and Methods: This cross-sectional study was carried out at a tertiary care hospital of Eastern Uttar Pradesh, India, in 312 patients with ovarian masses. RMI scores were calculated based on pre-operative cancer antigen-125 levels, ultrasonography, and menopausal status followed by post-operative histopathology, taken as gold standard. Using cutoff points of RMI indices, the sensitivity, specificity, positive predictive value, and negative predictive value of RMI were assessed. Results: Out of total 312 patients, 68 (21.8%) had malignant disease and 244 (78.2%) had benign pathology. All indices presented a significantly better performance in detecting malignancy than the use of a single parameter. Each of the RMIs had a different optimal threshold; however, using a threshold of 250, RMI 1, RMI 2, RMI 3, and RMI 4 had a sensitivity and specificity of 64.7%, 70.5%, 64.7%, and 65.2% and 93.4%, 83.6%, 90.2%, and 91.4%, respectively. Conclusion: The RMI is a simple, composite tool that at lower values can reliably predict benign nature of adnexal tumors. However, at values above the cutoff points, it is helpful for appropriate surgical planning and averts radical surgeries in women of reproductive age group.

Mullerian Duct Anomaly: Two Patients in Adolescent Age in C. R. Gardi Hospital

Clinical manifestations of Mullerian duct abnormalities vary greatly and can range from isolated abnormalities of a single reproductive organ to multiorgan aplasia. An early and precise diagnosis is essential because untreated symptoms may result in pelvic endometriosis, retrograde tubal reflux, and infertility. MRI and ultrasonography are the imaging modality that accurately helps in the diagnosis of mullerian duct anomalies. Two interesting cases came to C. R. Gardi OPD with Mullerian duct anomalies. The first case came with dysmenorrhea and a lower abdominal palpable mass upto 14 wk size was present, which was diagnosed to be bicornuate uterus, obstructed hemivagina. It is a diagnostic dilemma because menses were regular. Another case came with severe cyclic dysmenorrhea and was found to be a hematometra in the non-communicating rudimentary horn on the left side.