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1.
Cureus ; 16(5): e59463, 2024 May.
Article in English | MEDLINE | ID: mdl-38826997

ABSTRACT

Most fetal anomalies can be detected during the second trimester of chromosomal anomaly screening. However, even an experienced sonographer might fail to notice a fetal neck mass during this screening and would be diagnosed at a later point in time. In this case report, we have followed up on an incidentally detected case of fetal neck mass on antenatal sonography with post-delivery ultrasound and contrast-enhanced computed tomography.

2.
Cureus ; 16(5): e60593, 2024 May.
Article in English | MEDLINE | ID: mdl-38894766

ABSTRACT

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders characterized by the deficiency or malfunction of lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. We present the case of an 11-year-old male with a history of calcified mitral valve, rheumatic heart disease, and growth hormone deficiency who presented with dyspnea on exertion. Physical examination revealed dysmorphic facial features, short stature, and suboptimal weight and height parameters. Magnetic resonance imaging (MRI) of the brain showed cystic lesions in the white matter and corpus callosum, hydrocephalus, and cerebral atrophy, suggestive of MPS. This case highlights the importance of considering MPS in the differential diagnosis of patients with multisystemic involvement and the utility of advanced imaging techniques like MRI in guiding diagnosis and management. A multidisciplinary approach involving cardiology, endocrinology, genetics, and neurology is crucial for comprehensive management and improving patient outcomes. Early diagnosis and intervention are essential in optimizing the quality of life for patients with MPS.

3.
Cureus ; 16(5): e60820, 2024 May.
Article in English | MEDLINE | ID: mdl-38910629

ABSTRACT

Primitive neuroectodermal tumors (PNETs) are unprecedented threatening neoplasms beginning from primitive neuroectodermal cells. PNETs are reported as the predominant incidence observed in children and young adults with a high mortality rate. These neuroectodermal tumors are quite aggressive with a life expectancy of eight months on average. PNETs belong to the family of small round cell tumors majorly affecting bones and soft tissues in different body parts such as the brain, lungs, spine, and pelvic region. Computed tomography (CT) and magnetic resonance imaging (MRI) play a major role in giving the size, extent, and resectability of the tumors. A confirmed diagnosis is then made by histopathology and immunohistochemistry markers. This report depicts a case of PNET found within the right lung of a 13-year-old female, enumerating the clinical introduction, demonstrative handle, treatment modalities, and results. The case underscores the significance of precise conclusions and multidisciplinary approaches in pediatric PNET cases. Once the provisional diagnosis of pleuropulmonary blastoma or PNET was given on CT, a conformational histopathological examination was carried out. Histopathological analysis confirmed the final diagnosis of PNET, and the patient underwent neoadjuvant therapy as the tumor was non-resectable due to its massive size.

4.
Cureus ; 16(5): e60969, 2024 May.
Article in English | MEDLINE | ID: mdl-38915980

ABSTRACT

Central neurocytoma (CN) is a rare, low-grade, neuronal tumor frequently encountered in young adults. Complete surgical resection is the treatment of choice; however, it is associated with grave postoperative complications in a quarter of patients, including neurological (motor weakness, memory deficit, aphasia, and seizure) as well as regional (hydrocephalus, hematoma, infection, and subcutaneous hydrops) complications. Herein, we present a case of a 35-year-old female who presented with decreased vision for the last 7-8 days and headache over the last 1-1.5 years. An ophthalmologic examination suggested papilledema. Magnetic resonance imaging (MRI) of the brain illustrated a well-circumscribed, large, lobulated, altered signal intensity midline intraventricular lesion (72 × 68 mm) attached to the septum pellucidum near the foramen of Monro (FoM) most likely to be CN. The patient underwent complete surgical resection but required re-exploration the next day for hematoma removal due to intraventricular hemorrhage. Over the next 40 days, the patient developed hydrocephalus with transtentorial herniation and succumbed. Histopathological examination (HPE) was suggestive of CN and immunohistochemistry (IHC) was strongly positive for synaptophysin, thus confirming the diagnosis of CN.

5.
Cureus ; 16(5): e60067, 2024 May.
Article in English | MEDLINE | ID: mdl-38860104

ABSTRACT

This report illustrates the case of a 37-year-old woman following chemoradiotherapy for invasive ductal carcinoma of the right breast. The patient underwent surgery and received a radiation dose of 50 gray to the chest wall and 45 gray to the regional lymph nodes in 25 total fractions. She developed motor and sensory weakness in the right upper limb eight years after treatment. Brachial plexus neuropathy in cancer patients may result from either trauma to the plexus during surgery, the spread of cancer, or radiation therapy, and distinguishing between them may be difficult. The case highlights the importance of recognizing the signs, symptoms, and possible differential diagnosis of radiation-induced brachial plexopathy in cancer patients post-radiation therapy. It emphasizes the role of magnetic resonance imaging in the careful assessment and diagnosis of such a case.

6.
Cureus ; 16(3): e56927, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38665706

ABSTRACT

This review comprehensively explores the evolving role of neuroimaging, specifically magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS), in epilepsy research and clinical practice. Beginning with a concise overview of epilepsy, the discussion emphasizes the crucial importance of neuroimaging in diagnosing and managing this complex neurological disorder. The review delves into the applications of advanced MRI techniques, including high-field MRI, resting-state fMRI, and connectomics, highlighting their impact on refining our understanding of epilepsy's structural and functional dimensions. Additionally, it examines the integration of machine learning in the analysis of intricate neuroimaging data. Moving to the clinical domain, the review outlines the utility of neuroimaging in pre-surgical evaluations and the monitoring of treatment responses and disease progression. Despite significant strides, challenges and limitations are discussed in the routine clinical incorporation of neuroimaging. The review explores promising developments in MRI and MRS technology, potential advancements in imaging biomarkers, and the implications for personalized medicine in epilepsy management. The conclusion underscores the transformative potential of neuroimaging and advocates for continued exploration, collaboration, and technological innovation to propel the field toward a future where tailored, effective interventions improve outcomes for individuals with epilepsy.

7.
Cureus ; 16(2): e54099, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38487131

ABSTRACT

This comprehensive review explores the role of sonographic assessment in diagnosing and characterizing peripheral slow-flow vascular malformations (PSFVM). The review begins with an introduction providing the background and significance of PSFVM, defining these vascular anomalies, and emphasizing the importance of sonography in their diagnosis. The objectives focus on a thorough examination of existing literature, assessing the effectiveness of sonography in delineating morphological and hemodynamic features crucial for accurate classification. The summary of key findings highlights the diagnostic accuracy of sonography while acknowledging its limitations. Implications for clinical practice emphasize the practical utility of sonography in early diagnosis and preoperative planning, suggesting integration into multimodal approaches. The conclusion underscores the need for standardized criteria, ongoing education, and future research, positioning sonography as a valuable tool in the comprehensive management of PSFVM.

8.
Cureus ; 15(11): e48150, 2023 Nov.
Article in English | MEDLINE | ID: mdl-38046696

ABSTRACT

A rare disorder of sex development (DSD) linked to a 46,XX karyotype is characterized by male external genitalia, which can range from typical to atypical, often accompanied by testosterone deficiency. A 3-year-old child who appeared phenotypically male was brought to the hospital by his parents due to concerns about ambiguous genitalia. A comprehensive series of pathological tests and radiological imaging studies were conducted to ascertain the underlying cause of his presentation. Karyotyping revealed a 46,XX genotype, while magnetic resonance imaging (MRI) results indicated the presence of both testes and a Müllerian remnant. Consequently, the diagnosis was established as the de la Chapelle syndrome. This case report aims to highlight various imaging findings associated with this syndrome.

9.
Cureus ; 15(11): e48634, 2023 Nov.
Article in English | MEDLINE | ID: mdl-38090440

ABSTRACT

Spindle cell soft tissue sarcomas are rare and challenging malignancies that tend to masquerade as benign conditions. This case report presents a 70-year-old female who sought medical attention due to persistent right lower limb pain and swelling over one year. Despite prior consultations at private clinics, her symptoms continued to progress. A tender, palpable swelling was noted upon examination, prompting further diagnostic investigations. Initial X-ray results yielded inconclusive findings, necessitating an MRI study with contrast. The MRI unveiled a substantial multi-lobulated spindle-shaped mass lesion exhibiting heterogeneous enhancement and altered signal intensity, measuring 7.3 x 2.5 x 2.2 centimeters. Additional nodular lesions in the periarticular region posterior to the ankle joint confirmed the diagnostic suspicion of spindle cell sarcoma, supported by orthopedic evaluation. Symptomatic management was initiated with analgesics and antibiotics, alongside a recommendation for biopsy. Histopathological examination of the biopsy specimen confirmed the presence of spindle cell soft tissue sarcoma under high magnification. This case underscores the diagnostic challenges of spindle cell sarcomas and the imperative role of a multidisciplinary approach in their accurate diagnosis and management.

10.
Cureus ; 15(11): e48987, 2023 Nov.
Article in English | MEDLINE | ID: mdl-38111442

ABSTRACT

Jugular phlebectasia is an enlargement of the jugular vein that manifests as a soft, cystic lump in the neck which can be compressed, becomes prominent on crying or straining and disappears on rest. It needs to be distinguished from laryngocele, neck cysts, and tumours that can also develop with straining. We report a case of a seven-year-old boy presenting with a cervical cystic mass. Comparable computed tomography and ultrasonography findings helped identify the pathology.

11.
Cureus ; 15(10): e48038, 2023 Oct.
Article in English | MEDLINE | ID: mdl-38034148

ABSTRACT

Obstructive uropathy, a prevalent clinical problem, can irreparably harm the kidneys if not treated promptly. As a result, accurate diagnosis is necessary for prompt management. This study examines the utility of multidetector computed tomography (MDCT) urography in identifying obstructive uropathy. PubMed, Google, Embase, Medline, and other electronic databases were used to search the English-language literature. The search phrases were obstructive urinary infections or urinary bladder or kidneys or MDCT. The authors' expertise and experience in the subject area aided in archiving pertinent publications. Even though the dilated upper tract of the ureters can be seen, ultrasonography (USG) has limitations because it cannot show the middle portion of the ureters, even if they are dilated mostly due to bowel gas artifacts. The USG does not emphasize the functioning of the renal tract. To evaluate obstructive uropathy, MDCT urography plays a very important role. For speedy, effective therapy, it provides a quick diagnosis of the source of obstruction.

12.
Cureus ; 15(9): e45730, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37868582

ABSTRACT

The continual improvement in the field of medical diagnosis has led to the monopoly of using deep learning (DL)-based magnetic resonance imaging (MRI) for the diagnosis of knee injury related to meniscal injury, ligament injury including the cruciate ligaments, collateral ligaments and medial patella-femoral ligament, and cartilage injury. The present systematic review was done by PubMed and Directory of Open Access Journals (DOAJ), wherein we finalised 24 studies conducted on the accuracy of DL MRI studies for knee injury identification. The studies showed an accuracy of 72.5% to 100% indicating that DL MRI holds an equivalent performance as humans in decision-making and management of knee injuries. This further opens up future exploration for improving MRI-based diagnosis keeping in mind the limitations of verification bias and data imbalance in ground truth subjectivity.

13.
Cureus ; 15(8): e43316, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37700999

ABSTRACT

Intracranial dermoid cysts are rare, benign, congenital, and slow-growing cystic lesions. They contain mature squamous epithelium, apocrine, eccrine, sebaceous glands, and ectodermal structures. The rupture of intracranial dermoid cysts is a rare event and can cause life-threatening conditions.

14.
Cureus ; 15(6): e39969, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37416012

ABSTRACT

Rhombencephalosynapsis is an exceptionally uncommon cerebellar anomaly characterized by the absence or underdevelopment of vermal axons, the presence of dentate nuclei, and the fusion of cerebral hemispheres. Depending on the presence or absence of additional supratentorial anomalies, the prognosis and clinical appearance can vary widely. Here, we present the case of a consanguineous-parent newborn boy, aged four days, who was diagnosed with the use of an MRI. The child had spastic diplegia, bone anomalies, and facial dysmorphism. Slight hydrocephalus, hypogenesis of the corpus callosum, and agenesis of the septum pellucidum were some of the additional supratentorial abnormalities. This study details the clinical and MRI findings, as well as a possible etiology, of this illness.

15.
Cureus ; 15(4): e38064, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37252589

ABSTRACT

Kidney stone is a common cause of acute pain in the abdomen in patients presenting to casualty. Being present in roughly 12% of the world's population makes it the most prevalent pathology of the urinary system. The ureters, kidneys, and bladder frequently develop calculi, resulting in hematuria. The most effective imaging technique for evaluating calculi is unenhanced helical computed tomography. The population, intervention, control, and outcomes (PICO)-formatted question was used to generate methodological medical subject heading (MeSH) phrases, which increased the search strategy's sensitivity in finding research. Some of these names ("hematuria") included "renal calculi" (MeSH) and "cone-beam computed tomography" (MeSH). Studies that satisfied these requirements were subjected to critical evaluation. The merits of the listed studies were evaluated using a unique quality assessment scale. The most accurate imaging diagnostic test for people with hematuria is multidetector computed tomography. If a patient over 40 presents with microscopic hematuria, a non-contrast computed tomography or ultrasound study should be performed, and if gross hematuria is observed, cystoscopy should be added. Pre- and post-contrast computed tomography scans and cystoscopy should be carried out on elderly patients.

16.
Cureus ; 15(2): e35075, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36942180

ABSTRACT

Rib caries with a cold abscess is a rare presentation of tuberculosis (TB) and is tricky to diagnose. It is rarer in young patients, especially in conjunction with active miliary TB. We present one such case of a 23-year-old male patient who presented with swelling over the left lower chest. Rib caries and cold abscess were initially detected by ultrasonography and elastography. The rib involvement and the extent of the cold abscess were further evaluated on a computed tomography scan, which also showed active pulmonary miliary TB. The patient was treated by aspiration of the cold abscess and anti-tuberculosis therapy. The fact that the patient had no history of diabetes, alcoholism, human immunodeficiency virus infection, or immunodeficiency disorder increases the rarity of this case. This case highlights the role of imaging in diagnosing rib caries, cold abscess, and miliary TB.

17.
Cureus ; 15(1): e33530, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36779118

ABSTRACT

Gastrointestinal stromal tumors (GIST) are a rare and unique group of mesenchymal tumors arising from the gastrointestinal tract, omentum, mesentery, and retroperitoneum. Though they have certain typical radiological features that can differentiate them from epithelial tumors, it is often difficult to differentiate them from other non-epithelial tumors. Their features also vary depending on their size, site of origin, etc. When differentiation from other mesenchymal tumors on histopathology is difficult, receptor tyrosine kinase (C-KIT proto-oncogene/CD117) and gastrointestinal stromal tumor (GIST-1) discovered on GIST1 (DOG-1) expression are confirmatory. The concurrent presence of other primary cancers with GISTs has been described in the literature, among which most have been of gastrointestinal origin. Few cases of primary breast cancer in GIST have been described. Lymph nodal metastasis is rarely encountered in GIST, and metastasis to the breast is even rarer. We present a case of a 39-year-old female with non-specific symptoms who was referred for ultrasonography (USG) and computed tomography (CT) that showed a small intestinal GIST along with a breast lump and axillary lymphadenopathy that were labeled as metastases from the GIST on frozen sections; however, they were later diagnosed as primary breast cancer with axillary metastases on the histopathology and immunohistochemistry of the excision biopsy specimens post-surgery. The patient underwent surgical resection and chemotherapy.

18.
Cureus ; 15(12): e50048, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38186406

ABSTRACT

Female infertility, a complex and emotionally challenging condition, impacts millions of women worldwide. Timely and accurate diagnosis is crucial for tailoring effective solutions to overcome fertility challenges. Transvaginal sonography, a real-time and non-invasive imaging modality, is pivotal in this diagnostic process. This review focuses on the structural abnormalities of the female reproductive system related to female infertility, particularly highlighting the capabilities of transvaginal sonography in assessing ovulatory disorders, structural anomalies, endometrial conditions, ovarian reserve, and other contributing factors. It is important to note that while transvaginal sonography excels in detecting structural abnormalities, it may not effectively identify lifestyle and hormonal changes. This limitation underscores the necessity for a comprehensive diagnostic approach that includes additional modalities to address the multifaceted nature of female infertility. Despite acknowledging the inherent limitations and operator dependence of transvaginal sonography, we emphasize its significance in guiding clinicians toward well-informed decisions and personalized treatment plans. Looking forward, we anticipate the continual evolution of sonographic technology, offering enhanced diagnostic capabilities. The commitment to improving fertility outcomes for individuals and couples navigating the intricate path toward parenthood remains paramount. In conclusion, a holistic diagnostic approach incorporating various modalities is essential for a thorough understanding and effective management of female infertility.

19.
Cureus ; 14(10): e30205, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36381933

ABSTRACT

Three clinical scenarios, premature labor; inescapable abortion; and incompetent cervix, result in the dilatation of endocervical canals before term. Ultrasonography is the modality of choice for confirming the above conditions. Here, we discuss a case of preterm primigravida with complaints of bleeding per vagina with the dilated cervix and prolapsed membranes with fetal parts within.

20.
Cureus ; 14(10): e30293, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36407178

ABSTRACT

The severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) causes COVID-19, which is known to cause fever, dry cough, exhaustion, headache, and loss of taste and smell. Although fever, sore throat, and cough have historically been the utmost characteristic symptoms of the illness, published case reports have recently started to emphasize additional uncommon and unusual presentations of infection with the coronavirus. In COVID, the musculoskeletal system is seldomly involved. In addition to reviewing the causes and imaging characteristics of COVID-19-related illnesses of the musculoskeletal system, we elaborate on a case of a middle-aged man who developed myositis as sequelae to the COVID-19 infection.

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