Diagnostic Challenge Research Articles

Endoscopic endonasal optic nerve decompression in children younger than 2 years old with congenital optic canal stenosis: illustrative cases.

Congenital optic canal stenosis causing compressive optic neuropathy is a rare disorder that presents unique diagnostic and treatment challenges. Endoscopic endonasal optic nerve decompression (EOND) has been described for optic nerve compression in adults and adolescents but has never been reported for young children without pneumatized sphenoid sinuses. The authors describe preoperative and intraoperative considerations for three patients younger than 2 years of age with congenital optic canal stenosis due to genetically confirmed osteopetrosis or chondrodysplasia. Serial ophthalmological examinations, with a particular focus on object tracking ability, fundoscopic examination, and visual evoked potential trends in preverbal children, are important for detecting progressive optic neuropathy. The lack of pneumatization of the sphenoid sinus presents unique challenges and requires the surgical creation of a sphenoid sinus with the use of neuronavigation to determine the limits of bony exposure given the lack of easily identifiable anatomical landmarks such as the opticocarotid recess. There were no perioperative complications. EOND for congenital optic canal stenosis is safe and technically feasible even given the lack of pneumatization of the sphenoid sinus in young patients. The key operative step is surgically creating the sphenoid sinus through careful bony removal with the aid of neuronavigation. https://thejns.org/doi/10.3171/CASE23559.

Clinical Study of HELLP Syndrome and It's Outcome at Pravara Rural Hospital, Loni

Background: HELLP syndrome, a severe pregnancy complication characterized by hemolysis, elevated liver enzymes, and low platelet count, occurs in 0.5 to 0.9% of all pregnancies and in 10–20% of severe preeclampsia cases. It poses significant risks to both mother and fetus, presenting diagnostic and therapeutic challenges. Patients often experience epigastric or right upper quadrant pain, hypertension, proteinuria, fatigue, nausea, vomiting, sudden weight gain, and headaches. HELLP syndrome typically occurs in the second and third trimesters (27-37 weeks) and 15–30% of cases present postpartum. The exact causes remain unclear but may involve placental origins, autoimmune factors, gene mutations, or fatty acid oxidation disorders. Aims and Objectives: To analyze the clinical profile of HELLP syndrome cases and to assess maternal and perinatal outcomes, including morbidity and mortality. Material and Methods: This prospective cross-sectional study was conducted in the Obstetrics and Gynecology department at Pravara Rural Hospital, Loni, involving 45 patients with severe preeclampsia and eclampsia above 28 weeks of gestation diagnosed with HELLP syndrome. Patients were admitted to the ICU, and detailed histories and examinations were recorded. Patients were divided into two groups: those with HELLP syndrome (Group A) and those without (Group B). Results: Group A had a higher representation in the 20-22 age bracket, while Group B had more members aged 22-24. Cesarean sections were more common in Group A, whereas vaginal deliveries were more frequent in Group B. Blood pressure readings were higher in Group A. Maternal complications, such as abruption placentae, DIC, hepatic infarction, acute renal failure, and ascites, were more frequent in Group A, as were neonatal complications like IUGR, preterm delivery, neonatal thrombocytopenia, and RDS. Conclusion: The study reveals significant differences between patients with and without HELLP syndrome. Group A included younger patients, more first-time mothers, and a higher incidence of complications and mortality. These findings highlight the need for tailored management strategies for severe preeclampsia/eclampsia, especially in those with HELLP syndrome, to improve maternal and neonatal outcomes.

Differential Diagnosis of Pigmented Lesions in the Oral Mucosa: A Clinical Based Overview and Narrative Review

This paper examines the clinical differentiation of pigmented lesions in the oral mucosa, which poses significant diagnostic challenges across dental and medical disciplines due to their spectrum from benign to potentially malignant conditions. Through a literature review and analysis of clinical cases, this study clarifies current diagnostic methodologies, with an emphasis on differential diagnosis, to provide a practical guide for clinicians. The classification of pigmented lesions, such as endogenous, focal melanocytic, and multifocal pigmentation, based on clinical and histological features, highlights the necessity for a structured and informed approach. A retrospective examination of cases from our oral medicine and pathology clinic, coupled with analysis of photographic and histological records, aids in classifying these lesions. This fosters a better understanding and promotes informed discussions among clinicians, ultimately aiming to enhance early and precise diagnosis, thus improving patient management and outcomes.

Recalcitrant Ulnar Sided Hand Pain in a Collegiate Golfer: A Case Report.

This case report details a diagnosis of myositis ossificans (MO) in a collegiate golfer with right ulnar-sided hand pain after striking the ground on a swing. Despite conservative treatment and a thorough workup, the patient's ulnar-sided hand pain did not improve. An ultrasound eventually revealed MO within the abductor digiti minimi muscle. The patient received an ultrasound-guided fenestration and injection of lidocaine and dexamethasone into the affected muscle, leading to complete symptom resolution. MO is often secondary to trauma, causing bone formation in soft tissue, leading to pain, limited range of motion (ROM), and disability. This case highlights the importance of considering MO in cases of persistent muscular pain and the diagnostic challenges related to ulnar-sided hand anatomy.

Multimodal diagnostic strategies and precision medicine in mucinous ovarian carcinoma: a comprehensive approach.

Mucinous ovarian carcinoma (MOC) represents a distinct entity within ovarian malignancies, characterized by diagnostic challenges due to its rarity and the potential overlap with other tumor types. The determination of tumor origin is important for precise postsurgical treatment. This article highlights the accurate diagnosis and management of MOC, including the use of imaging modalities, serological tumor markers, immunohistochemistry, and genomic analyses. Transabdominal and transvaginal ultrasonography, complemented by MRI and CT, plays a pivotal role in differentiating MOC from other mucinous tumors and in surgical planning, particularly for fertility preservation. Serological markers like CA19-9, CA-125, and CEA, though not definitive, provide valuable preoperative insights. Immunohistochemistry aids in distinguishing primary MOC from metastatic mucinous carcinomas, while genomic profiling offers the potential for precision medicine through the identification of specific molecular signatures and treatment susceptibilities. Despite advancements in diagnostic techniques, no single method conclusively differentiates between primary and metastatic tumors intraoperatively. The paper reviews the origins, diagnosis, and differential diagnosis of primary mucinous ovarian carcinoma highlights the need for a multimodal diagnostic approach and advocates for the inclusion of MOC patients in clinical trials for personalized therapies, recognizing the heterogeneity of the disease at the molecular level.

Intracranial solitary fibrous tumors: Clinical, radiological, and histopathological insights along with review of literature

BackgroundIntracranial solitary fibrous tumors (SFTs) are rare mesenchymal neoplasms, often challenging to diagnose due to their resemblance to meningiomas and other central nervous system tumors. While advancements in molecular genetics have aided in classification, diagnostic nuances and optimal management strategies remain areas of interest. Materials and methodsThis retrospective study analyzed 11 cases of intracranial SFTs treated at a neurosurgical centre in India between February 2020 and January 2024. Clinical data, radiological findings, histopathological features, and follow-up details were reviewed. Immunohistochemistry, particularly STAT6, facilitated diagnosis confirmation. ResultsThe median age of presentation was 32 years, with a male predominance. Headache was the most common presenting symptom, often leading to misdiagnosis as meningiomas on radiological imaging. Histologically, SFTs exhibited spindle to ovoid cells with staghorn vessels and collagenized stroma, posing challenges in differential diagnosis. WHO grading predominantly revealed grade 1 tumors, though recurrence occurred, emphasizing the importance of long-term follow-up. Immunohistochemistry, particularly STAT6, played a pivotal role in distinguishing SFTs from other entities. ConclusionIntracranial SFTs present diagnostic challenges due to overlapping features with other tumors, warranting a comprehensive approach integrating clinical, radiological, and histopathological findings. Immunohistochemistry, particularly STAT6, emerges as a valuable diagnostic tool. Long-term follow-up is essential for monitoring recurrence and potential malignant transformation. Further research is needed to delineate optimal treatment strategies, including the role of radiotherapy in SFT management.

Diagnostic Challenges Associated With the Prevalence of Concurrent Serious Bacterial Infection in Children With Bronchiolitis.

Diagnostic Challenges Associated With the Prevalence of Concurrent Serious Bacterial Infection in Children With Bronchiolitis.

Differential Diagnosis of Pigmented Lesions in the Oral Mucosa: A Clinical Based Overview and Narrative Review.

This paper examines the clinical differentiation of pigmented lesions in the oral mucosa, which poses significant diagnostic challenges across dental and medical disciplines due to their spectrum from benign to potentially malignant conditions. Through a literature review and analysis of clinical cases, this study clarifies current diagnostic methodologies, with an emphasis on differential diagnosis, to provide a practical guide for clinicians. The classification of pigmented lesions, such as endogenous, focal melanocytic, and multifocal pigmentation, based on clinical and histological features, highlights the necessity for a structured and informed approach. A retrospective examination of cases from our oral medicine and pathology clinic, coupled with analysis of photographic and histological records, aids in classifying these lesions. This fosters a better understanding and promotes informed discussions among clinicians, ultimately aiming to enhance early and precise diagnosis, thus improving patient management and outcomes.

Association between pemphigus vulgaris and pyoderma gangrenosum

AbstractPyoderma gangrenosum (PG) is a neutrophilic dermatosis associated with certain neoplasms, predominantly of haematological origin, and autoimmune diseases. Pemphigus vulgaris (PV) is a disease in which antibodies target crucial intercellular junction components. A few cases of PG associated with PV have been described. We present a woman with a high phototype presenting this rare association and highlight the diagnostic challenge of diagnosing rare diseases in patients with high phenotypes.

Knee tuberculosis in the context of MALT lymphoma: the diagnostic role of ultrasound and CEUS. A case report.

Tuberculosis (TB) arthritis remains a diagnostic challenge. In addition to clinical presentation, the use of imaging techniques and confirmation of Mycobacterium tuberculosis are essential. We present the case of a 69-year-old female in whom the diagnosis of knee TB arthritis was simultaneously established with the diagnosis of MALT lymphoma. This case report aims to highlight the role of multimodal ultrasound (US) in both diagnosis and its utility in interventional procedures, such as aspiration and synovial biopsy.

Mustard oil consumption and Harris platelet syndrome: unveiling a dietary link to thrombocytopenia in the Indian subcontinent

Background and objectives: Asymptomatic thrombocytopenia, characterized by a reduced platelet count without bleeding symptoms, is notably prevalent in certain regions of India and Bangladesh, presenting a diagnostic challenge. A significant portion of healthy blood donors from Bangladesh and various parts of India, particularly West Bengal, exhibit this condition, termed Harris platelet syndrome (HPS). This review explores the potential correlation between mustard oil consumption, a common dietary staple in these regions, and the incidence of HPS. Methods: A comprehensive narrative review was conducted using systematic search strategies across databases such as Google Scholar, MEDLINE, PubMed, and Scopus. Keywords included "Harris platelet syndrome," "mustard oil consumption," "thrombocytopenia," and "erucic acid." Studies were selected based on relevance and quality, focusing on the epidemiology of HPS, dietary habits, and the thrombocytopenic effects of erucic acid. Results: HPS shows a significant geographical prevalence in the Indian subcontinent, notably in regions like West Bengal, Kashmir, and Assam. The review identifies a higher prevalence of thrombocytopenia in areas with predominant mustard oil usage. Studies highlight the association between dietary erucic acid from mustard oil and thrombocytopenia, with notable effects observed in patients treated with Lorenzo’s Oil, which contains erucic acid. Conclusions: The review highlights a significant association between mustard oil consumption and asymptomatic thrombocytopenia in the Indian subcontinent. The similarity in hematological profiles between HPS and erucic acid-induced thrombocytopenia underscores the need for further research. This includes measuring erucic acid levels in patients, conducting controlled dietary interventions, and genetic analyses to differentiate between genetic and environmental factors. July 2024; Vol. 18(2):009. DOI:https://doi.org/10.55010/imcjms.18.021 *Correspondence: Wasim Md MohosinUl Haque, Department of Nephrology, Bangladesh Institute of Research and Rehabilitation in Diabetes, Endocrine and Metabolic Disorders (BIRDEM), 122 Kazi Nazrul Islam Avenue, Dhaka-1000, Bangladesh. Email: wmmhaque@live.com

Mustard oil consumption and Harris platelet syndrome: unveiling a dietary link to thrombocytopenia in the Indian subcontinent

Background and objectives: Asymptomatic thrombocytopenia, characterized by a reduced platelet count without bleeding symptoms, is notably prevalent in certain regions of India and Bangladesh, presenting a diagnostic challenge. A significant portion of healthy blood donors from Bangladesh and various parts of India, particularly West Bengal, exhibit this condition, termed Harris platelet syndrome (HPS). This review explores the potential correlation between mustard oil consumption, a common dietary staple in these regions, and the incidence of HPS. Methods: A comprehensive narrative review was conducted using systematic search strategies across databases such as Google Scholar, MEDLINE, PubMed, and Scopus. Keywords included "Harris platelet syndrome," "mustard oil consumption," "thrombocytopenia," and "erucic acid." Studies were selected based on relevance and quality, focusing on the epidemiology of HPS, dietary habits, and the thrombocytopenic effects of erucic acid. Results: HPS shows a significant geographical prevalence in the Indian subcontinent, notably in regions like West Bengal, Kashmir, and Assam. The review identifies a higher prevalence of thrombocytopenia in areas with predominant mustard oil usage. Studies highlight the association between dietary erucic acid from mustard oil and thrombocytopenia, with notable effects observed in patients treated with Lorenzo’s Oil, which contains erucic acid. Conclusions: The review highlights a significant association between mustard oil consumption and asymptomatic thrombocytopenia in the Indian subcontinent. The similarity in hematological profiles between HPS and erucic acid-induced thrombocytopenia underscores the need for further research. This includes measuring erucic acid levels in patients, conducting controlled dietary interventions, and genetic analyses to differentiate between genetic and environmental factors. July 2024; Vol. 18(2):009. DOI:https://doi.org/10.55010/imcjms.18.021 *Correspondence: Wasim Md MohosinUl Haque, Department of Nephrology, Bangladesh Institute of Research and Rehabilitation in Diabetes, Endocrine and Metabolic Disorders (BIRDEM), 122 Kazi Nazrul Islam Avenue, Dhaka-1000, Bangladesh. Email: wmmhaque@live.com

Challenges in diagnosis of calcaneal fractures: an examination using the WIDI SIM platform.

The calcaneus is the most commonly fractured tarsal bone. Diagnosis is often challenging due to subtle radiographic changes and requires timely identification to prevent complications, including subtalar arthritis, neurovascular injury, malunion, osteomyelitis, and compartment syndrome. Treatment varies based on fracture type, with non-surgical methods for non-displaced stress fractures and surgical interventions for displaced or intra-articular fractures. This study utilized the Wisdom in Diagnostic Imaging Simulation (WIDI SIM) platform, an emergency imaging simulation designed to assess radiology resident preparedness for independent call. During an 8-hour simulation, residents were tested on 65 cases across various imaging modalities of varying complexity, including normal studies. A single, unique case of calcaneal fracture was included within the simulation in four separate years of testing. Cases were assessed using a standardized grading rubric by subspecialty radiology faculty, with errors subsequently classified by type. A total of 1279 residents were tested in five separate years on the findings of calcaneal fractures of 5 different patients. Analysis revealed a consistent pattern of missed diagnoses across all training years, primarily attributed to observational errors. There was limited improvement with training progression as all training years exhibited similar average performance levels. Calcaneal fractures pose a diagnostic challenge due to their frequent subtle radiographic findings, especially in stress fractures. Simulation-based evaluations using WIDI SIM highlighted challenges in radiology residents' proficiency in diagnosing calcaneal fractures. Addressing these challenges through targeted education and exposure to diverse cases is essential to improve diagnostic accuracy and reduce complications with calcaneal fractures.

Ultrasound features of cutaneous myiasis: a rare case in a child.

Cutaneous myiasis is an infestation of the skin with larvae of some dipteran species. Among humans, Dermatobia hominis is the most frequently encountered dipteran responsible for cutaneous myiasis. This insect is endemic to tropical and subtropical regions, consequently, individuals travelling from non-endemic areas are most susceptible to infection due to a lack of prior exposure. Three clinical variants of myiasis are distinguished: furuncular, migratory, and wound myiasis. Furuncular myiasis represents the most common form among travelers, yet it is a rare cause of pediatric skin manifestations in developed countries. Limited awareness of this condition in non-endemic regions contributes to diagnostic challenges. In this scenario, ultrasound is useful in the diagnostic workup, enabling the identification of the viable larva.

Complexity in the diagnosis of endocrine ophthalmopathy with a carotid-cavernous fistula. A clinical case

Introduction. Clinical cases featuring a combination of endocrine ophthalmopathy with a carotid-cavernous fistula are scarce, with only four cases documented in the literature, thus posing a diagnostic challenge due to overlapping clinical symptoms. A carotid-cavernous fistula with high blood flow typically presents a clear clinical picture. However, low-flow variants are challenging to timely diagnose. A history of head trauma can be an essential diagnostic clue, as carotid-cavernous anastomosis develops in 75% of cases post-trauma and in 25% spontaneously. Bilateral carotid-cavernous fistulas are particularly rare.Purpose: to present the clinical features and outcomes of bilateral endocrine ophthalmopathy associated with a non-traumatic carotid-cavernous fistula, based on the prospective observation of a patient treated in various city healthcare hospitals during 2021–2022.Case description. The patient first visited the ophthalmologist in October 2021, presenting with bilateral exophthalmos, edema, and eye redness. A positive test for antibodies to thyroid-stimulating hormone and enlargement of the eye muscles, confirmed by orbital ultrasound, led to a diagnosis of “Endocrine Ophthalmopathy”. The patient’s condition was managed jointly by an endocrinologist and an ophthalmologist. Over two months, a worsening of ocular symptoms was observed, prompting a neurosurgical consultation. Cerebral angiography conducted in a hospital setting confirmed a carotid-cavernous fistula. An endovascular procedure was performed five months after the initial ocular symptoms appeared to separate the carotid-cavernous anastomosis on the right using a non-adhesive composition. Ocular symptoms resolved within 2–3 weeks post-surgery.Conclusions. Clinical manifestations of carotid-cavernous fistulas can resemble those of endocrine ophthalmopathy. The absence of a traumatic head injury history, complaints of unilateral head noise synchronous with the pulse, and the bilateral nature of the symptoms complicated the diagnosis of this neurosurgical pathology in a patient with endocrine ophthalmopathy. It is crucial to include both conditions in the differential diagnosis and to employ a multidisciplinary approach for effective management.

Ultrasound features of cutaneous myiasis: a rare case in a child.

Cutaneous myiasis is an infestation of the skin with larvae of some dipteran species. Among humans, Dermatobia hominis is the most frequently encountered dipteran responsible for cutaneous myiasis. This insect is endemic to tropical and subtropical regions, consequently, individuals travelling from non-endemic areas are most susceptible to infection due to a lack of prior exposure. Three clinical variants of myiasis are distinguished: furuncular, migratory, and wound myiasis. Furuncular myiasis represents the most common form among travelers, yet it is a rare cause of pediatric skin manifestations in developed countries. Limited awareness of this condition in non-endemic regions contributes to diagnostic challenges. In this scenario, ultrasound is useful in the diagnostic workup, enabling the identification of the viable larva.

Unraveling Complexity: Delving into a Novel Pigmented Epithelioid Melanocytoma Case

Abstract Pigmented epithelioid melanocytoma (PEM) is a rare and diagnostically challenging skin neoplasm. Differentiating this lesion from melanoma is challenging due to overlapping clinical, histopathological, and immunohistochemical features. Some PEMs have a benign course, while others may be associated with more aggressive behaviour and have potential for local recurrence or distant metastasis. So, careful evaluation and follow-up are crucial for individuals with a diagnosis of PEM. This case study focuses on a 42-year-old woman with a gradually enlarging, dark, pigmented gluteal lesion. Histopathological analysis following complete excision showed nodular proliferation of spindled and epithelioid melanocytes in the dermis, extending into subcutaneous fat. Cellular atypia or mitotic figures were absent, confirming the diagnosis as PEM. This case underscores the intricate balance between monitoring and intervention in complex dermatological cases, shedding light on diagnostic challenges and ultimately striving for improved patient care.

Epidemiology and diagnostic challenges of anti-NMDAR encephalitis: a study from the Waikato region.

Anti-NMDAR encephalitis is an increasingly recognised autoimmune disorder, with evolving diagnostic criteria. This study aims to analyse the prevalence and diagnostic patterns of anti-NMDAR encephalitis in a New Zealand hospital setting. Data from Waikato Hospital's lab database, encompassing anti-NMDAR antibody requests between August 2013 and July 2023, were examined. Cases were categorised based on age, gender and diagnostic outcomes. In all requests, 288/318 (91%) were processed and 10/288 (3.5%) anti-NMDAR antibodies were positive. Positive cases were equally frequent by sex, with an average age of 29.4 years. Only 6/10 were diagnosed with anti-NMDAR encephalitis, while others received alternative diagnoses. Māori ethnicity was overrepresented. This study indicates a low prevalence of anti-NMDAR encephalitis in the Waikato region, with adult predominance. Ethnic disparities were observed. The need for refining testing criteria to optimise cost-effectiveness is discussed. Anti-NMDAR encephalitis is relatively rare in Waikato Hospital, New Zealand, with diagnostic challenges related to testing criteria and ethnic diversity. Further research and consideration of testing protocols are warranted.

Diagnostic Challenges in a Nine-year-old Boy with ADEM and Longitudinal Extensive Transverse Myelitis

Diagnostic Challenges in a Nine-year-old Boy with ADEM and Longitudinal Extensive Transverse Myelitis

Epithelioid trophoblastic tumor with lung metastasis: A case report and literature review.

Epithelioid trophoblastic tumor (ETT) is an extremely rare variant of gestational trophoblastic neoplasms (GTNs). The biological behavior and therapeutic schedule of ETT remains to be defined which frequently poses diagnostic and therapeutic challenges. Although ETT is a relatively indolent malignancy tumor, the therapeutic efficacy and survival rate decrease significantly when presented with metastases. The lung is the most common site of ETT metastasis. A 39-year-old female patient presented with irregular vaginal bleeding and slight distention pain in lower abdomen. The patient was diagnosed ETT with lung metastasis after surgery and immunohistochemical staining. A total abdominal hysterectomy plus bilateral salpingectomy and histopathology were performed. The patient received 3 cycles of etoposide, methotrexate, actinomycin-D/etoposide, cisplatin (EMA/EP) regimen chemotherapy after surgery. Due to the presence of lung metastasis, she received pulmonary lesion resection and another cycle of postoperative chemotherapy. The patients showed a good response to treatment initially. However, the patient did not complete the full initial treatment for family reasons and had signs of recurrence after 2.5 months. The serum β-hCG level gradually elevated and the lung imaging showed that the lesion area gradually expanded. After 15 months of follow-up, the patient declined further treatment due to a lack of presenting symptoms. The diagnosis of ETT should be taken into consideration in patients with abnormal vaginal bleeding and low levels of β-hCG. Patients with metastatic disease should be treated with complete surgical resection and intensive combination chemotherapy to maximize the opportunity for cure. Targeted biological agents might be potential therapeutic strategies for chemotherapy-resistant or recurrent patients.