Case Review Research Articles

Pulmonary manifestations in hyper IgE syndrome: A case series and review of Indian literature.

Recurrent pulmonary infections starting from childhood often prompt evaluation for primary immunodeficiency disorders (PIDs). Hyper IgE syndrome (HIES) is a less common PID characterised by recurrent skin and pulmonary infections associated with elevated IgE levels. Staphylococcal infections are more commonly seen in these individuals, resulting in structural lung abnormalities such as pneumatoceles and bronchiectasis. The associated non-immunologic features (characteristic facies, retained primary dentition, scoliosis, osteopenia, and hyperextensible joints) should raise suspicion of this syndrome. We present four cases of HIES and review the pulmonary manifestations in this disease as reported in the Indian literature.

Breast squamous cell carcinoma: Case report and review of the literature

Squamous cell carcinoma (SCC) of the breast is a rare and aggressive form of breast cancer, classified as a metaplastic carcinoma. Diagnosis of this carcinoma is challenging due to the absence of distinctive clinical or radiological features. Histopathological conformation is essential, and immunochemistry typically shows negativity for hormone receptors and HER2, with positive markers such as CK5/6 and P40. Treatment strategies are not well defined, but platinum-based chemotherapy has shown promising results in some cases. Radiotherapy can serve both curative and palliative purposes depending on disease stage. We report the case of a 57-year-old patient treated in our department with chemotherapy and radiotherapy.

Mesenteric venous thrombosis in a young adult: A case report and review of the literature

Mesenteric venous thrombosis in a young adult: A case report and review of the literature

Tubercular Osteomyelitis of Skull: Case Report and Review of the literature

Skeletal tuberculosis constitutes about 1j of all cases. Usually, spine and limb bones are involved. Tubercular osteomyelitis of the skull is a rare entity; therefore, diagnosis is rarely suspected. We report one such rare case of an atypical calvaria skull osteomyelitis in a14 years old female who presented with swelling on the right frontoparietal region for 3 months. CT scan of brain and bony window revealed a lytic bony lesion at the right parietal bone with associated epidural soft tissue component at the right parietal top causing compression over adjacent parenchyma- possibly eosinophilic granuloma or chronic osteomyelitis. Patient was treated surgically by excision of the lesion with cranioplasty by synthetic bone cement. After surgical treatment, the specimen was sent for histopathology which showed granulomatous inflammation histologically consistent with tuberculosis. She was treated with antitubercular therapy. Our Case highlights all these aspects of skull tuberculosis with review of the available literature relevant to skull tubercular osteomyelitis. EWMCJ Vol. 12, No. 1&2, January-July 2024: 111-119

Cystic ductal adenocarcinoma of pancreas complicated with neuroendocrine tumor: A case report and review of literature

BACKGROUND Difficulties in making an accurate preoperative diagnosis of cystic pancreatic lesions pose a challenge for radiologists. It would be helpful to report rare cases and review the literature. CASE SUMMARY In the present report, a case of a patient with a pancreatic cystic lesion initially misdiagnosed as a pseudocyst by radiologist was documented, which was later pathologically confirmed as pancreatic ductal adenocarcinoma with neuroendocrine tumor. However, subsequent literature review yielded no previous reports of pancreatic ductal adenocarcinoma with neuroendocrine tumors and cystic lesions. Therefore, literature on the imaging diagnosis of pancreatic cystic lesions was instead reviewed and discussed. CONCLUSION Careful evaluation of the characteristics revealed by multimodal imaging techniques, medical history, laboratory examination data and follow-up observations, is critical to the diagnosis and treatment of pancreatic cystic disease. We provide valuable insights into the diagnosis of pancreatic cystic disease through a rare case report and literature review.

Ectopic thyroid tissue in adrenal gland – A case report and review of literature

Ectopic thyroid tissue along the line of descent of thyroid from foramen caecum along thyroglossal duct to the normal anatomic location in neck has been reported. Ectopic thyroid tissue in adrenal gland (ETTAG) is rarely encountered and very few cases have been reported in literature. The most common differential diagnosis to be considered when thyroid follicles are noted in adrenal gland are metastasis from a thyroid malignancy or a teratoma or an ectopic thyroid tissue in adrenal gland. We present a case of an adrenal incidentaloma in a young pregnant female which was diagnosed to be ectopic thyroid tissue in adrenal gland. The review of literature of similar cases of this rare embryological aberrance is discussed. To our knowledge, only 16 such cases have been documented in literature and our case is the first one from Indian subcontinent and the largest documented with respect to size.

The Dutch practice of euthanasia and assisted suicide in patients suffering from psychiatric disorders: a qualitative case review study

ImportanceEuthanasia or assisted suicide (EAS) in patients suffering from a psychiatric disorder (PD) is a controversial topic worldwide. In the Netherlands, this practice is regulated by law. All cases of EAS have to be reported and are assessed by the Regional Euthanasia Review Committees (RTEs), who publish a selection of all cases on their website.ObjectiveTo provide insight into the Dutch practice of EAS in patients suffering from a psychiatric disorder.Design, setting and participantsWe performed a retrospective case review study in which all published cases of EAS in patients suffering from a PD between 2017 and 2022 were analyzed.Intervention(s) or exposure(s)Not applicableMain outcome(s) and measure(s)Characteristics of patients who died by EAS because of suffering from a PD, characteristics of the reporting physician and consultant(s) and the RTEs assessment of published cases.ResultsOf the 72 cases studied, the majority of patients were female (n=48, 67%), suffered from 3 or more conditions (n=38, 53%) and died by euthanasia instead of assistance in suicide (n=56, 78%). In 63% of cases (n=45), the life termination was performed by a physician from the Euthanasia Expertise center (EE). The RTEs’ judgement that the case did not meet the due care criteria (n=11) was in all cases related to issues regarding the (advice of the) independent physician or psychiatric expert.Conclusion and relevanceThis qualitative study shows that the RTEs attach great importance to a careful evaluation procedure of physicians handling EAS requests and to the physician demonstrating ability to reflect on his views, especially when the independent consultant evaluates the case different than the physician. Training for physicians and more transparency in the assessment of EAS requests in patients with a PD may lower the threshold for physicians to handle requests of these patients themselves.Trial registrationNot applicable.

Formation and rupture of liver hematomas caused by intrahepatic gallbladder perforation: A case report and review of literature

Formation and rupture of liver hematomas caused by intrahepatic gallbladder perforation: A case report and review of literature

Reassessment of palliative surgery in conversion therapy of previously unresectable hepatocellular carcinoma: Two case reports and review of literature

Reassessment of palliative surgery in conversion therapy of previously unresectable hepatocellular carcinoma: Two case reports and review of literature

Ultrasound-Guided Intranodal Lipiodol Lymphangiography for the Assessment and Treatment of Chylous Leaks: A Retrospective Case Series from a Single Center in Switzerland and a Systematic Review of the Literature

Background: Lymphatic leaks are well-known complications of major thoracic or abdominal surgeries, which significantly heighten morbidity and mortality rates. While the existing literature provides insights into managing these post-operative leaks, with a step-up approach from conservative measures (CMs) to surgical intervention, there are no standardized treatment guidelines. The purpose of this paper is to offer a management algorithm of post-operative lymphatic leaks based on a systematic literature review (SLR) of the therapeutic effect of Lipiodol lymphangiography (LL), completed by a case series of five patients who underwent LL in our department. Methods: In this IRB-approved study, we conducted an SLR following the PRISMA guidelines, using a PICOS. A quality assessment was performed for each study. The case series consisted of consecutive patients who underwent LL for diagnostic and therapeutic purposes at our institution between September 2018 and December 2020. Results: A total of 39 observational studies were included in the SLR comprising 11 retrospective case reviews (Group 1), and 3 case series as well as 25 case reports (Group 2). In total, these studies report cases of 557 patients (51.52% presenting oncological diagnoses; 43.98% having benefited from lymphadenectomy). Lymphatic or chylous fistulas were the most encountered complication, followed by chylothorax. The median volume of Lipiodol injected during lymphography was 11.7 mL (range: 9.8–75 mL). Overall, LL was technically successful in 77.7% (366/471) of patients. The clinical success of all technically successful LLs was 80.6% (295/366). Time-to-leak resolution after lymphography varied between 1 and 31 days. The factors associated with treatment failure were a high leak output (>500 mL/day) and Lipiodol extravasation on post-LL imaging. Our case series consisted of five patients (mean age: 62 ± 9.24 years; 20% female; 100% oncological diagnoses; 60% having beneficiated from lymphadenectomy). Technical and clinical successes were 80% (4/5) and 75% (3/4), respectively. Time-to-leak resolution varied between 1 and 4 days. The volume and technique of LL was not different from that identified in the SLR. Conclusions: LL is a safe procedure with high technical and clinical success rates that could be proposed as both a diagnostic and therapeutic solution for patients with post-operative central lymphatic lesions.

Unroofed coronary sinus, left-sided superior vena cava and mitral insufficiency: A case report and review of the literature

Unroofed coronary sinus, left-sided superior vena cava and mitral insufficiency: A case report and review of the literature

A 25-Year-Old Woman with Continues Unconsciousness For 10 Days; A Case Report and Review of Literature

We reported the case of a 25-year-old woman with antihistamine abuse who presented to our hospital with a GCS of 7 and no significant past medical, psychological, or allergic history. We couldn’t find any evidence of head trauma, seizures, suicide, or any other metabolic, infectious, intoxication, or electrolyte disturbances. During her 10-day admission, the patient developed non-specific manifestations such as fever, hyperthermia, agitation, hypotension, and sinus tachycardia. Physicians should always consider over-the-counter medicines such as antihistamines as a differential diagnosis for loss of consciousness in patients who do not have any footprints of intoxication in primary urine or blood tests.

Riedel’s thyroiditis: A case report and review of the ultrasound findings of this rare disease entity

Introduction: Riedel’s thyroiditis is a rare inflammatory disease of the thyroid with non-specific and varied presentations. A typical presentation and ultrasound findings are reported in this case. Case Report: A 68-year-old male is referred to Ear, Nose and Throat for a neck lump that varied in size over 2 years. An ultrasound scan identified a suspicious nodule on the left thyroid that was biopsied confirming the diagnosis of Riedel’s thyroiditis. Discussion: The aetiology, presentation and management of Riedel’s thyroiditis are explored. The use of ultrasound and the utility of other imaging and biochemical tests are discussed. Conclusion: Riedel’s thyroiditis is a difficult condition to diagnose due to rarity, varied presentation, with non-specific clinical, biochemical and radiographic findings which often mimic thyroid cancers. Definitive diagnosis of Riedel’s thyroiditis requires histological analysis, and while fine-needle aspirations are typically insufficient, diagnostic samples can be taken with ultrasound-guided core biopsies.

Chronic Immune Sensory Polyradiculopathy (CISP): A Systematic Review of the Literature

Chronic immune sensory polyradiculopathy (CISP) is a rare inflammatory immune disorder affecting the nervous system, primarily targeting the proximal sensory nerve roots. The condition was first described by Sinreich in 2004. We conducted a systematic review of CISP cases published on PubMed to identify common clinical presentations, along with neurophysiological, radiological, cerebrospinal fluid (CSF), and other findings. Our review included a total of 22 patients from 8 articles. Many patients presented with gait difficulties and sensory ataxia and were found to have normal nerve conduction studies (NCS) and electromyography (EMG) but exhibited characteristic abnormalities in somatosensory evoked potentials (SSEP), elevated CSF protein levels, thickened nerve roots on contrast-enhanced lumbar spine MRIs, and histological changes on nerve root biopsies. Clinical improvement was observed following treatment with steroids and/or intravenous immunoglobulin (IVIG). The study concluded that while CISP is rare, it is an important clinical entity to consider, as accurate diagnosis and appropriate treatment can lead to significant improvements in neurological symptoms and disabilities.

Undifferentiated Pleomorphic Sarcoma of the Proximal Thigh With Neoplastic Fever and Metachronous Sternal Metastases: A Case Report and Review of the Literature

Undifferentiated Pleomorphic Sarcoma of the Proximal Thigh With Neoplastic Fever and Metachronous Sternal Metastases: A Case Report and Review of the Literature

Analysis of patients with parotid recurrence after parotid-sparing IMRT for nasopharyngeal carcinoma: case series and review of the literature.

Intensity-modulated radiotherapy (IMRT) is the standard treatment approach for nasopharyngeal cancer (NPC). IMRT enables effective sparing of the parotid glands and reduces the risk of xerostomia, acommon complication of head and neck irradiation. Nevertheless, it is essential to determine whether the parotid-sparing IMRT (ps-IMRT) technique yields increased intra-/periparotid recurrence rates, which constitutes the main purpose of this study. Patients with adiagnosis of NPC that received definitive chemoradiotherapy/radiotherapy (CRT/RT) between 1991 and 2021 were evaluated retrospectively. Patients with intra-/periparotid recurrence were detected and prognostic factors for recurrence were sought. Atotal of 746 patients were evaluated. Two-dimensional (2D)-RT was applied to 541, 3D conformal RT (3D-CRT) to 10, and ps-IMRT to 195 patients. After amedian 85-month follow-up, one (0.18%) patient who received 2D-RT and four (2%) patients who received ps-IMRT experienced an intra-/periparotid recurrence. The median time to intra-/periparotid recurrence was 11.9 months. All patients had been diagnosed with ametastatic lymph node > 2 cm at levelII of the ipsilateral neck. In addition, all recurrences occurred on the same side as the positive neck at the time of diagnosis. The 3‑year overall survival, locoregional recurrence-free survival, and distant metastasis-free survival rates were 80%, 40%, and 60%, respectively. Intra-/periparotid recurrence is extremely rare in NPC. However, it is still possible to identify and characterize particular risk factors, which include ametastatic lymph node at levelII, particularly > 2 cm, and multinodal disease at the time of diagnosis.

Nodular basal cell carcinoma of the scrotum: a case report and review of the literature

Nodular basal cell carcinoma of the scrotum: a case report and review of the literature

Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: A 10-year case report and case-based review.

Neuronal ceroid lipofuscinoses (NCLs) are rare, fatal, inherited neurodegenerative disorders characterized by myoclonic epilepsy, cognitive decline, brain atrophy, and retinopathy. The pathogenesis and clinical manifestations of NCL are not well understood and frequently result in misdiagnosis and overtreatment. The aim of this case report and review is to improve our understanding of the clinical features and management of NCL. A 36-year-old woman initially presented with refractory epilepsy. Initially diagnosed with autoimmune encephalitis, the patient was later diagnosed with normal-pressure hydrocephalus. A definitive diagnosis of adult-onset neuronal ceroid lipofuscinosis (ANCL) was established after 10 years of observation, utilizing biopsy and genetic testing. High-dose intravenous immunoglobulin and methylprednisolone were administered, along with the insertion of a ventriculoperitoneal shunt. Despite various treatments, the patient's condition did not improve. ANCL typically presents with the clinical triad of refractory seizures, progressive cognitive decline, and movement disorders. Neuroimaging often reveals progressive brain atrophy on magnetic resonance imaging, while electroencephalograms frequently show epileptiform discharges. The prognosis is generally poor. Improved understanding of ANCL from both clinical and radiological perspectives, coupled with early consideration of differential diagnoses, could minimize unnecessary interventions and optimize patient care.

A Rare, Atypical Case of Porcupine Quill Shot in the Glenoid Fossa: Case Report and Review of Literature

A Rare, Atypical Case of Porcupine Quill Shot in the Glenoid Fossa: Case Report and Review of Literature

Scleral buckling in retinal detachment due to retinal dialysis - A vitreoretina fellow's perspective.

To analyze the efficacy of scleral buckling in the hands of vitreo-retina (VR) fellows under training in eyes with retinal detachment associated with retinal dialysis and analyze the patient and retinal characteristics in these eyes. We carried out a retrospective consecutive case review at a tertiary eye care center in North India. Records of all the patients who had undergone scleral buckling (SB) for retinal dialysis-associated rhegmatogenous retinal detachment by VR fellows (with less than 2 years' experience) between January 2017 and January 2020 were reviewed. Fifty-three eyes of 53 patients with a mean age of 20.77 years were analyzed. Of the patients, 73.58% were males. History of eye trauma was present in 71.69% patients. A total of 21 residents operated these 53 eyes. SB was able to achieve retinal attachment in a single surgery in 84.9% (45/53) eyes. Mean preoperative best corrected visual acuity was 1.9 ± 1.05 log of minimum angle of resolution (logMAR), which improved postoperatively to 1.07 ± 0.72 logMAR (P < 0.001). Surgical success rate was 85.71% (24/28) in eyes with no proliferative vitreoretinopathy (PVR), 66.66% (2/3) in eyes with PVR-A, 91.66% (11/12) in eyes with PVR-B, and 80% (8/10) in eyes with PVR-C1. Fifty-two eyes had a single dialysis and one eye had two separate dialysis. Six eyes had giant retinal dialysis (dialysis greater than 3 clock hours) and all were due to trauma. Five patients had retinal dialysis in the fellow eye and were diagnosed with bilateral idiopathic retinal dialysis. Scleral buckling is a safe and effective management for retinal dialysis retinal detachment even in the hands of VR fellows under training.