Diagnostic Dilemma Research Articles

Diagnostic dilemma – Ovarian dermoid cysts presenting with uncommon complications and a rare association

Mature cystic teratomas, also known as dermoid cysts, are commonly encountered ovarian tumors accounting for up to 10–25% of all ovarian neoplasms. Mostly asymptomatic and incidentally detected, they may present with associated complications such as torsion, rupture, malignant transformation, and infection. Fistulization of ovarian cysts into the bowel is a rare complication and occurs in cases of infection or malignant transformation. We present a rare case of an infected dermoid cyst with co-existing endometriosis and fistulization into the rectum in a 35-year-old female. The patient presented with fever, pain, and history of infertility. This article highlights the important differential diagnosis to be considered in a multiloculated ovarian cyst containing fat and pockets of air.

Diagnostic Dilemma in a Case of Pneumothorax after Brachial Plexus Block

Diagnostic Dilemma in a Case of Pneumothorax after Brachial Plexus Block

A Case of Pelvic and Right Iliac Fossa Abscess: A Diagnostic Dilemma

RIF abscess is an intriguing condition which can possibly be life compromising. It can prompt sepsis whenever cracked. Regularly, these abscesses are overseen through a blend of clinical and careful surgical intervention. Herein, we report a pelvic and RIF abscess which was dealt laparoscopically.

Primary isolated extranodal NK/T-cell lymphoma of the orbit: A case report and diagnostic dilemma

Natural killer T-cell lymphoma (NKTL) is associated with Epstein-Barr virus, a highly malignant tumor that typically arises in the nose and/or paranasal sinuses isolated orbital involvement by NKTL is extremely rare. Herein, we report a case of primary orbital NKTL in a young female patient. A 32-year-old female presented with gradually increasing painful swelling of the right eye. On examination, abaxial proptosis, inferolateral displacement of the eyeball, restricted extraocular muscle movement, and solid mass in the subconjunctival fornix and superior quadrant. The rest of the ocular and systemic examination was unremarkable. Magnetic resonance imaging with contrast of the orbit shows a lobulated mass lesion 35×30×18 mm involving the medial aspect of the right orbit extraconal and superior intraconal space extending up to the preseptal region. Informed consent and biopsy were done and sent for histopathology examination. Histopathological examination shows the spectrum of atypical lymphoid cells, indented or cleaved nuclei and pale to clear cytoplasm, few histiocytes, giant cells, and apoptotic body. To rule out lymphoma, immunohistochemistry (IHC) was advised. On IHC, tumor cells were positive for CD3, D56, CD4 focally, CD7, Ki-67–90% and negative for CD20, CD2, Tdt, PAX5, CD34, CD5, Cd8 leading to a diagnosis of extranodal NKTL of the orbit. To the best of our knowledge, around 20 cases of isolated orbital extranodal NKTL were reported in the literature review. Polymorphic lymphoid cell in a young patient often mimics the inflammatory conditions of orbit. The rarity of this tumor and inflammatory signs make it challenging to identify these tumors early.

Pediatric extremity rhabdomyosarcoma–A diagnostic dilemma

Rhabdomyosarcoma (RMS) is a common soft-tissue malignancy of childhood, accounting for approximately 7% of cancers in children. They arise from primitive mesenchymal cells of skeletal muscle differentiation and occur most commonly in the head-and-neck region. Despite aggressive approaches, the overall outcome remains poor. Here, we present the case of a 9-year-old girl who presented with complaints of swelling over the left forearm for 2 months. Magnetic resonance imaging revealed a well-defined lobulated mass in the flexor compartment of the left forearm, suggestive of soft-tissue neoplasm. A biopsy done of the mass showed a malignant round blue cell tumor. Immunohistochemistry led to the diagnosis of RMS. The patient was started on multimodal therapy and is doing well on follow-up. Extremity swelling in the pediatric age group with malignant round cell morphology can pose diagnostic difficulty. A detailed work-up is essential for an accurate diagnosis. This case report emphasizes the role of a multimodality approach to the diagnosis and treatment of pediatric RMS.

Recurrent hyperinsulinemic hypoglycemia in a patient with type 2 diabetes, Graves’ disease, and foregut neuroendocrine tumor: Diagnostic and therapeutic challenges

ABSTRACT While hypoglycemia is a frequent problem encountered in clinical practice, endogenous hyperinsulinemic hypoglycemia in a patient with diabetes is rare. Here, we describe such a case of recurrent hypoglycemia due to multifocal insulinoma (differential focal nesidioblastosis) in an adult patient with diabetes. The diagnostic dilemma, pitfalls in interpreting advanced imaging techniques, and difficulty in management of hyperinsulinemic hypoglycemia with underlying diabetes have been focused. The utility of acarbose and uncooked cornstarch to maintain euglycemia while combating two opposite sinister pathologies has been discussed. The novel association of antibody-negative Graves’ disease with insulinoma and nesidioblastosis is also reported in this study.

Cerebral venous sinus thrombosis: A diagnostic dilemma in an uncommon presentation

Cerebral venous sinus thrombosis: A diagnostic dilemma in an uncommon presentation

A Diagnostic Dilemma: Thrombocytopenia and Hemolysis in a Patient with Systemic Lupus Erythematosus: A Laboratory Perspective

A Diagnostic Dilemma: Thrombocytopenia and Hemolysis in a Patient with Systemic Lupus Erythematosus: A Laboratory Perspective

Retroperitoneal Angioleiomyoma: An Extremely Rare Case Report

Angioleiomyoma (ALM) is a benign mesenchymal tumor arising from the smooth muscle cells of the vessel wall. Common sites include subcutaneous tissues of the lower extremities but can also be seen in unusual sites including the head-and-neck region, submandibular gland, uterus, ovary, and broad ligament. It is exceptionally rare in retroperitoneum. Local recurrence is extremely rare but known to occur. Imaging features are nonspecific. Differential diagnosis on the basis of radiological features is difficult. Definitive diagnosis requires histopathology examination. Angiomyolipoma and myopericytoma are considered close differentials on microscopy at retroperitoneal locations. Histopathological examination along with immunohistochemistry markers such as desmin and HMB-45 are required for definitive diagnosis. It is difficult to diagnose angioleiomoma preoperatively, considering its location, thereby we are tempted to present an extremely rare case of retroperitoneal ALM highlighting its diagnostic dilemma.

Porphyria Presenting with Psychotic Symptoms and Developmental Regression: A Diagnostic Dilemma

Abstract We report a case of a 12-year-old boy who presented with acute onset of psychotic symptoms and later developed developmental regression and repetitive motor behavior. A number of investigations were done and urine was noted to be positive for porphobilinogen. A diagnosis of acute intermittent porphyria (AIP) was considered. AIP usually presents with abdominal pain, gastrointestinal disturbances, peripheral neuropathy, and psychiatric disturbances. The most common psychiatric symptoms include irritability, depression, anxiety, insomnia, hallucinations, and paranoia or altered consciousness. This case is unique as the only clinical manifestations were psychotic symptoms and developmental regression.

An interesting case of orbital tuberculosis with intracranial extension

Tuberculosis (TB) is a chronic airborne infectious disease caused by Mycobacterium tuberculosis and is one of the causes of morbidity and mortality in the underdeveloped nations. TB most commonly involves the lungs, but it can affect nearly any tissue in the body, including the orbit. Orbital TB is a rare manifestation even in endemic countries and mostly occurs as part of systemic involvement secondary to pulmonary disease. Exclusive extrapulmonary involvement of the orbit with intracranial extension is very rare; diagnostic dilemma, unique management, and the outcome make our case interesting and worthy of reporting.

GATA3 Expression in Prostatic Adenosquamous Carcinoma: A Potential Diagnostic Pitfall.

Urothelial carcinoma and prostatic adenocarcinoma can have overlapping histologic features and in some instances pose challenges to pathologists. GATA binding protein 3 (GATA3) immunohistochemistry (IHC) is a well-established tool to aid in this specific diagnostic dilemma as it has been shown to be a sensitive marker for urothelial carcinoma and a putatively specific marker in excluding prostatic adenocarcinoma. However, in encountering an index tumor of prostatic adenosquamous carcinoma positive for GATA3, herein we sought to investigate this potential diagnostic pitfall in a larger series of tumors. In this study, we retrospectively reviewed prostatic adenosquamous carcinomas diagnosed in 17 patients across the authors' institutions and personal consult collections in the past 10 years. GATA3 IHC was either reviewed or performed on tumors not previously tested. We also recorded other immunostains that were performed at initial diagnosis. Positivity for GATA3 was found in 9 of 17 (53%) tumors, all within squamous regions (2 tumors also showed concomitant moderate GATA3 positivity within glandular elements). The GATA3 positive tumors were all positive for p63 in the 7 tumors where p63 was also performed. Of all tumors tested, NKX3.1 was positive in 100% (13/13) of the glandular elements (3 tumors also showed NKX3.1 concomitant positivity within squamous regions). In summary, when encountering a carcinoma with mixed glandular/squamous features in which prostatic origin is being considered, awareness of GATA3 immunoreactivity in a subset of prostatic adenosquamous carcinoma is critical to avoid diagnostic pitfalls.

CSCR with full-thickness retinal fold: An atypical presentation

We are reporting an atypical presentation of full-thickness retinal fold in central serous chorioretinopathy (CSCR) in a 30-year-old male. Thick retinal folds in the setting of CSCR is not yet described and can pose a diagnostic dilemma. It is important not to misdiagnose CSCR as inappropriate management may lead to severe visual impairment.

Diagnostic Dilemma of Midline Neck Swelling in an Elderly Patient – Case Report

Diagnostic Dilemma of Midline Neck Swelling in an Elderly Patient – Case Report

Saddled by the Saddle Nose: A Case of Wegener's Granulomatosis

Wegener's Granulomatosis with polyangiitis (GPA) is a systemic disease of unknown etiology characterized by necrotizing granulomatous inflammation, tissue necrosis, and variable degrees of vasculitis in small- and medium-sized blood vessels. The classical clinical triad consists of involvement of the upper airways, lungs, and kidneys. Saddle-nose deformity is a well-recognized complication of GPA but more commonly occurs due to leprosy, trauma, cocaine abuse, and sarcoidosis. Since this entity is not commonly encountered in our country, we present a unique case of a middle-aged woman presenting with saddle-nose deformity and the diagnostic dilemmas faced by us. This case is being reported due to its rarity in Indian literature.

First episode psychosis in a young person with a diagnosis of Autistic Spectrum Disorder: A Case report

IntroductionPsychotic disorders are significant comorbidities in young people with Autistic Spectrum Disorder (ASD). Evidence suggests that ASD & psychosis present with overlapping clinical features & cognitive symptoms leading to misdiagnosis (Trevisan et al. Front.Psych 2020;11:548). Clinicians encounter diagnostic dilemma during assessment of psychosis in adolescents with ASD.ObjectivesTo discuss the clinical challenges in the assessment & treatment of young people with ASD & comorbid psychosis.MethodsA case report of a young girl with ASD & comorbid psychotic illness.ResultsA young girl with ASD was admitted to CAMHS inpatient Unit with unusual beliefs & perceptual disturbances. She reported hearing the voice of ‘Hydrogis’ who was talking to her about his girlfriend. She made a voodoo doll & tried to set it on fire, as she believed that this would kill the girlfriend. She also heard voices of characters from a TV show, discussing her in third person. She absconded from home due to the distress associated. She attempted suicide by tying a ligature. She was seen responding to external stimuli, laughing incongruously & was thought disordered. Despite never being to USA, she spoke in American accent. She lacked insight & struggled to differentiate reality from fantasy. The aim of admission was to determine if the symptoms were part of ASD or a psychotic disorder. She had medication free assessment but continued to be very distressed. We commenced Aripiprazole which was optimised. She responded well to the treatment & was discharged to the care of Early Intervention in Psychosis team with partial remission of symptoms.ConclusionsHistorically psychotic illnesses & ASD were thought to be closely linked. Research suggest that they are two separate disorders with specific onset, progress, signs & symptoms. ASD might be misdiagnosed as psychosis as difficulties in communication may resemble thought disorder, ‘melt down’ may mimic catatonia & difficulties in recognising others’ intentions may mimic paranoia. Our patient was experiencing first episode psychosis in late adolescence. This age of onset is consistent with research findings. A study to differentiate between ASD & psychosis found that positive symptoms like hallucinations & delusions were suggestive of psychosis while odd emotional gestures, stereotyped speech & restricted interests indicated ASD. Our patient predominantly had positive symptoms of delusions, hallucinations & thought disorder, hence our diagnosis of psychotic episode. In some cases, it is difficult to differentiate childhood fantasies from delusional beliefs (Ribolsi et al. Front.Psych 2022;13:768586). Bleuler explains that children with ASD replace imperfect realities with imaginations & hallucinations but Michael Rutter claims that autistic children lack fantasy. There are varying views on this subject & this is the challenge we faced when treating this young person.Disclosure of InterestNone Declared

Detection of Traumatic Ankle Arthrotomies: Computed Tomography Scan Versus Saline Load Test.

Periarticular wounds present a common diagnostic dilemma for emergency providers and orthopedic surgeons because traumatic arthrotomies (TA) often necessitate different management from superficial soft tissue wounds. Historically, TA have been diagnosed with the saline load test (SLT). Computed tomography (CT) scan has been studied as an alternative to SLT in diagnosing TA in several joints, but there are limited data specifically pertaining to the ankle. This study aimed to compare the ability of a CT scan to identify an ankle TA versus a traditional SLT. The hypothesis was that there would be no significant difference between a CT scan and SLT in diagnosing ankle TA in a cadaveric model. This cadaveric study used 10 thawed fresh-frozen cadaveric ankles. A baseline CT scan was performed to ensure no intra-articular air existed before simulated TA. After the baseline CT, a 1 cm TA was created in the anterolateral arthroscopy portal site location. The ankles then underwent a postarthrotomy CT scan to evaluate for the presence of intra-articular air. After the CT scan, a 30 mL SLT was performed using the anteromedial portal site location. After arthrotomy, intra-articular air was visualized in 7 of 10 cadavers in the postarthrotomy CT scan. All the ankles had fluid extravasation during the SLT with <10 mL of saline. The sensitivity of the SLT for TA was 100% versus 70% for the CT scan. The SLT was more sensitive in diagnosing 1-cm ankle TA than a CT scan in a cadaveric model.

“Unraveling the Diagnostic Dilemma: Unusual Presentation of Huntington’s Disease with Predominant Psychiatric Symptoms and Late-Onset Motor Manifestations”

IntroductionHuntington’s Disease is a neurodegenerative disease inherited in an autosomal dominant fashion.The underlying genetic defect is unstable CAG trinucleotide repeat expansion with a repeat length longer than 36 resulting in pathological aggregation of abnormal protein causing cell death.The clinical symptoms encompass 3 main domains-motor,cognitive and psychiatric.The psychiatric symptoms often in atypical form appear decades before other symptoms causing significant impact on patient’s functioning and quality of life.Here, we discuss an unusual presentation of Huntington’s Disease causing diagnostic dilemma.ObjectivesCase report discussing the unusual presentation of Huntington’s Disease.MethodsCase: Mr X is a 61 year old Caucasian male.He had an uneventful birth and early childhood attaining milestones appropriately. He experienced childhood adversity in the form of sexual abuse between ages 2-14 years. His mental health difficulties started following sexual abuse when he attempted to end his life by hanging and overdosing at age 15. He got married twice, both of which broke down. There is a history of significant alcohol abuse between ages 40-50. Following this, he had a myocardial infarction and a stroke requiring stenting.He presented to Psychiatric Outpatient Services in 2011 with auditory hallucinations, social anxiety with panic attacks, OCD type rituals, claustrophobia and feeling hot all the time. He was started on an antipsychotic medication for psychosis ,but clinically deteriorated. He started having anger outbursts, marching on the spot ,and head banging. He was diagnosed with Huntington’s Chorea in 2021 after he had developed chorea. He currently has low mood and is head banging for hours.ResultsPsychiatric symptoms in HD can span a variety of domains but most common are symptoms of frontal lobe dysfunction-disinhibition, poor attention, irritability, impulsivity and personality change. Apathy, emotional blandness and social withdrawal are also prominent features.Mr X had strong family history of Paranoid Schizophrenia (aunt and cousin).There was no family history of HD. His mental health problems started early in life with DSH, Depression and Harmful use of Alcohol. He presented predominantly with psychotic symptoms like auditory hallucinations, social anxiety, paranoia. Motor symptoms started late which he incorporated into voluntary movements like head banging which made it difficult to differentiate from deliberate self harm.ConclusionsPsychiatric symptoms constitute the core of HD. Studies have shown that though depression and personality change are typical of HD, there are number of other psychiatric symptoms that can impair quality of life. Early diagnosis and treatment of these symptoms will help patients and families to cope better with severe symptoms of this progressive disease.Disclosure of InterestNone Declared

Diagnostic Dilemma of Radicular Cyst Mimicking a Dentigerous Cyst

Abstract Radicular cyst is the most common odontogenic cyst of the jaw; however, its association with overretained deciduous teeth involving impacted permanent teeth is a rare entity and hence may pose a diagnostic dilemma. The aim of this report is to present a case of radicular cyst that mimicked the dentigerous cyst. A 31-year-old female reported to the department of oral medicine with the chief complaint of swelling on the lower left side of the face. Intraoral examination revealed over-retained carious 75. Based on the clinical features, differential diagnosis was given as a radicular cyst and a dentigerous cyst on radiographic examination; intraoral periapical revealed a cystic lesion involving the crown of the deciduous tooth. Cone-beam computed tomography further confirmed that the cystic lesion was not involving the crown of the impacted premolar. Hence, the three-dimensional radiographic evaluation of the lesion helps to rule out the differential diagnosis.

Post-stroke hemiballismus: a series of two cases

Background. Hemiballismus is a rare hyperkinetic movement disorder characterized by irregular, poorly patterned, high amplitude involuntary movements of the limbs on one side of the body. While being usually a consequence of subthalamic nucleus lesions, hemiballismus is uncommonly associated with stroke in adults. Moreover, many debates remain regarding the physiopathology behind post-stroke hemiballismus and its optimal treatment. Case reports. In this context, the article aims to present two intriguing cases of hemiballismus arising from ischemic stroke, illustrating the intricate interplay between vascular pathology and movement disorders. Case 1 involves a 72-year-old female presenting with sudden onset left hemiballismus following incomplete right middle cerebral artery infarction, who received intravenous thrombolysis and had a good outcome. Case 2, an 80-year-old female presenting with abrupt onset right hemiballismus, with a suboptimal therapeutic response but self-remission after three months. Considering the inconclusive imaging results, this case highlights the diagnostic challenges and dilemmas encountered in the management of post-stroke hemiballismus. Conclusions. The authors propose a discussion by comparing the selected case reports with currently available data from the literature, focusing on the diagnosis and possible therapeutic strategies. These two cases underscore the importance of early recognition and tailored management of post-stroke hemiballismus, enriching the understanding of this movement disorder.