Present Case Research Articles

Accidente cerebrovascular isquemico: Trombosis de seno venoso; Reporte de un caso.

Strokes represent one of the greatest causes of morbidity and mortality in the country. These in turn can be ischemic or hemorrhagic, with ischemic events being the most prevalent with statistics that represent up to 80% and their pathophysiology occurs when there is a blockage at the level of the blood vessels, reducing blood flow to the territories that represent this vascularization, producing anoxia and cell death. The origin of this plugging may be due to atheromatous plaques, cardioembolic, or there is no well-defined cause that produces occlusion of the vessels. blood vessels, which are generally arterial; However, there are certain situations where a venous type vessel is occluded, which at the cephalic level is represented by the venous sinuses that drain circulation from the head, presenting a different pathophysiology and a different treatment. The present case refers to a female patient presenting with rapidly progressive neurological deficit and deterioration in level of consciousness due to intracranial hypertension.

Abstract C069: Unraveling the complexity of malignant peritoneal mesothelioma: A comprehensive case study of diagnosis, clinical features, and therapeutic challenges in a 75-year-old male

Abstract Introduction: Malignant Peritoneal Mesothelioma (MPM) is a rare and aggressive intra-abdominal neoplasm originating from mesothelial cells. Although asbestos exposure is a known risk factor, MPM's molecular pathogenesis differs from its pleural counterpart. Case Presentation: A 75-year-old male, with a past medical history of recently diagnosed mesothelioma, presented to the emergency department for a two-week progression of abdominal distension, early satiety, and dyspnea aggravated by activity. One year prior, he initiated medical evaluation for fluid retention and abdominal distension. A recent omental biopsy confirmed the diagnosis of mesothelioma, prompting the initiation of chemotherapy every three weeks. Despite paracentesis performed monthly, the patient experienced worsening shortness of breath and early satiety post-chemotherapy. Discussion: Malignant Peritoneal Mesothelioma poses a diagnostic challenge due to the absence of specific signs or symptoms. Common manifestations include abdominal distension, pain, early satiety, weight loss, dyspnea, chest pain, and fatigue. Rare symptoms encompass new-onset hernia, fever of unknown origin, night sweats, or incidental findings during physical examinations or laparoscopy. Delays in presentation and diagnosis contribute to the advanced stage at diagnosis, with most cases having already spread throughout the abdominal cavity. Three distinct presentations of MPM include the Dry Painful Type, characterized by abdominal pain with minimal ascites; the Wet Type, presenting with abdominal distension and ascites; and the Mixed Type, combining abdominal pain and distension. Paraneoplastic phenomena, such as fever, thrombocytosis, malignancy-related thrombosis, hypoglycemia, hypoalbuminemia, paraneoplastic hepatopathy, and rarely, Coombs-positive Hemolytic anemia, further complicate the clinical picture. Surgical gross and microscopic descriptions of liver biopsies indicated chronic hepatitis with mild portal inflammation, grade 1, and no fibrosis, stage 0. Notably, the omental biopsy confirmed Malignant Mesothelioma of the epithelioid type. Immunohistochemical stains supported the diagnosis, revealing positivity for CK AE1/AE3, calretinin, WT1, CK7 (focally), and GATA3 (focally), while testing negative for BAP1, CDX2, chromogranin, CK20, hepatocyte antigen, PAX8, PSA, synaptophysin, and TTF1. Due to the rarity of MPM, no standardized treatment protocols exist. Cytoreductive surgery (CRS) and hyperthermic intraoperative peritoneal perfusion with chemotherapy (HIPEC) are recommended for selected patients without extraperitoneal disease spread, possessing a good performance status and potential for complete surgical cytoreduction. Systemic chemotherapy, particularly pemetrexed-based regimens, is advocated for patients ineligible for CRS/HIPEC. Conclusion: MPM's aggressive nature poses diagnostic and therapeutic challenges. The scarcity of standardized guidelines emphasizes the importance of ongoing research to enhance understanding, improve diagnostics, and develop targeted therapies Citation Format: Aliya M Khan, Mehmet Hepgur, Aryama Sharma. Unraveling the complexity of malignant peritoneal mesothelioma: A comprehensive case study of diagnosis, clinical features, and therapeutic challenges in a 75-year-old male [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C069.

Abstract C067: Immune thrombocytopenia induced by PD-1/PD-L1 inhibitors in a patient with non-small cell lung adenocarcinoma: A case report and literature review

Abstract Introduction: The introduction of immunotherapy, particularly programmed cell death protein 1 (PD-1) and programmed cell death-ligand 1 (PD-L1) inhibitors, has transformed the treatment paradigm for non-small cell lung adenocarcinoma (NSCLC), significantly improving patient survival rates. However, alongside their immune-activating effects, these agents can also lead to immune-related adverse events (irAEs), affecting various organ systems. Among these, immune thrombocytopenia (ITP) is a rare but potentially life-threatening complication characterized by the destruction of platelets by autoantibodies, resulting in decreased platelet counts and an increased risk of bleeding. While ITP has been identified as a complication of immunotherapy, particularly PD-1 or PD-L1 inhibitors, its incidence, clinical presentation, and management remain poorly understood. Case Presentation: The 73-year-old female with stage IIIA poorly differentiated NSCLC who received chemotherapy with Taxol/Carboplatin and concurrent radiation therapy followed by a right upper lobectomy, initiated on immunotherapy with durvalumab, a PD-L1 inhibitor, developed severe thrombocytopenia (grade 4) after receiving two cycles of durvalumab. Despite steroid treatment, her condition persisted, indicating immune-related adverse events (irAEs). After confirming the diagnosis through further investigation, including molecular analysis, the patient was treated with intravenous immunoglobulin (IVIG), which significantly increased her platelet counts. Durvalumab was discontinued, and fostamatinib, a spleen tyrosine kinase (SYK) inhibitor, was initiated to manage the irAEs effectively. Discussion: ITP is recognized as an immune-related adverse event (irAE) associated with PD-1 or PD-L1 inhibitors, although it remains rare and poorly understood. Several case reports have highlighted the occurrence of ITP induced by these inhibitors, demonstrating varied clinical presentations and responses to treatment. Mechanisms underlying ITP induction by PD-1/PD-L1 inhibitors are not fully elucidated but may involve immune dysregulation, including CD4+ and CD8+ T cell activation, production of antiplatelet antibodies, and increased expression of PD-L1 on platelets. Management strategies for ITP induced by PD-1/PD-L1 inhibitors include steroids, intravenous immunoglobulin (IVIG) therapy, recombinant human thrombopoietin (TPO), interleukin-6 (IL-6) receptor antagonists, and immunosuppressive agents. However, the effectiveness of these treatments varies among patients, highlighting the need for individualized approaches and further research to optimize management strategies. Conclusion: The prompt recognition and management of ITP induced by PD-1/PD-L1 inhibitors are essential for ensuring favorable patient outcomes. Further research is needed to understand the underlying mechanisms and develop effective prevention and management strategies for this rare but serious immune-related adverse event. Citation Format: Aliya M Khan, Richa Dawar. Immune thrombocytopenia induced by PD-1/PD-L1 inhibitors in a patient with non-small cell lung adenocarcinoma: A case report and literature review [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C067.

EMERGENCY ESOPHAGECTOMY FOR ESOPHAGEAL PERFORATION FOLLOWING BALLOON DILATION DUE TO STENOSIS POST-ENDOSCOPIC SUBMUCOSAL DISSECTION FOR ESOPHAGEAL CANCER: A CASE REPORT

Introduction and importance: Esophageal perforation from endoscopic dilation is rare (0.53% to 0.6% incidence) but serious, with mortality rates of 12.5% to 20%. Optimal treatment is debated and depends on the medical facility’s capabilities, patient’s symptoms, extent of perforation, and severity of associated lesions. Treatment options include medical management (fasting, antibiotics), esophageal stenting, surgical closure, or emergency esophagectomy. Early diagnosis and treatment are crucial to reduce mortality and hospital stay. Case presentation: A 49-year-old male with lower third esophageal cancer (stage cT1aN0M0) underwent endoscopic submucosal dissection (ESD) and developed esophageal stenosis. Dilation attempts led to esophageal perforation, necessitating emergency esophagectomy with gastric conduit reconstruction. The patient improved and was discharged on day 10 post-operation without complications. Clinical discussion: Managing esophageal perforation post-endoscopic dilation is complex. This case highlights the importance of rapid recognition and intervention. Esophageal dilation, while effective for stenosis, carries a perforation risk. Treatment decisions must be tailored to individual patients, considering perforation severity, patient’s health, and facility resources. Here, severe perforation and clinical condition warranted emergency esophagectomy. The successful outcome underscores the efficacy of this surgical intervention when performed timely at specialized centers. Conclusion: Emergency esophagectomy with gastric conduit reconstruction for treating esophageal perforation due to stenosis post endoscopic submucosal dissection for esophageal cancer is considered a safe procedure and can be performed at an experienced esophageal surgery center.

Degeneración combinada subaguda de la médula y gastritis atrófica: revisión de la literatura

Introduction: Subacute combined degeneration of the spinal cord is a consequence of vitamin B12 deficiency. Its clinical presentation includes paresthesia, and proprioception and vibratory sensation loss, which can become disabling. Case presentation: we report the case of an elderly patient who experienced initial paresthesia which progressed to paraparesis, as well as some memory loss. Based on his physical examination a diagnostic impression of myelitis was made. Further investigation evidenced cyanocobalamin deficiency. Conclusion: patient was treated with vitamin B12 supplementation, obtaining an adequate response. There are numerous causes of vitamin B12 deficiency, however, its treatment is simple, and its early initiation can prevent severe neurological symptoms leading to disability.

Novel 10q21.1-q22.1 duplication in a boy with minor facial dysmorphism, mild intellectual disability, autism spectrum disorder -like phenotype, and short stature

Introduction: Duplications reported in 10q21-q22 include borderline to moderate intellectual disability, growth retardation, autism, attention deficit hyperactivity disorder, and minor craniofacial dysmorphism. Case presentation: We present a patient with a novel 14.7 Mb de novo interstitial duplication at 10q21.1-q22.1 delineated by a high-definition (HD) single nucleotide polymorphism (SNP) array. The boy had minor facial dysmorphism, mild intellectual disability, an autism spectrum disorder-like phenotype, and short stature. Conclusion: This is the first case in which a novel 10q21.1-q22.1 duplication was detected by HD SNP array, expanding the spectrum of duplications seen in 10q21-q22. This report provides a detailed clinical examination of a patient with a 10q21.1-q22.1 duplication and suggests that brain development and cognitive function may be affected by an increased dosage sensitivity of the involved JMJD1C and EGR2 genes. This case contributes to the understanding of the genotype-phenotype relationship for genetic counselling and provides further evidence for the identification of a novel microduplication syndrome in 10q21-q22.

Successful Treatment of Unresectable BRCA1 L63*-Mutated Basal Cell Carcinoma Invading the Parietal Bone with Cisplatin and Fluorouracil: A Case Report

Introduction: Basal cell carcinoma (BCC) is a common skin cancer that rarely metastasizes but can deeply infiltrate local tissues. The small number of unresectable BCC cases makes it difficult to conduct clinical trials, resulting in delays in the development of effective drugs for BCC. Cancer gene panel testing has led to an increasing number of new treatment proposals for patients with solid tumors for whom no standard treatment is available. Case Presentation: We described a case of unresectable BRCA1 L63*-mutated BCC invading the parietal bone, which was successfully treated with cisplatin and fluorouracil. Conclusion: Our present case suggests that comprehensive mutation analysis by gene panel testing is important in advanced BCC because genes other than those involved in the hedgehog signaling pathway can be driver genes.

Early removal of transorbital penetrating traumatic brain injury by a wooden object: a case report

Introduction and Importance: Transorbital penetrating traumatic brain injury (TPTBI) is a rare cause of penetrating head injury, yet the diagnoses can be overlooked in some cases due to incomplete history, trivial trauma, and the absence of immediate neurologic deficits. Case Presentation: A 4-year-old male child was admitted with a diagnosis of TPTBI by a wooden object. Non-contrast enhanced CT scan revealed a linear hypodense structure extending from the superior wall of the right orbit into the frontal lobe with displaced fragments into the brain. Additionally, cerebral contusion, pneumocephalus, and hematoma with surrounding edema were seen in the frontal lobe. Early extraction of the foreign body was performed by a multidisciplinary team of Neurosurgeons and Ophthalmologists. The wooden fragment of size 10 cm×1 cm×1 cm was removed by a small mini-craniotomy of the right frontal supraorbital bone with the gentle pulling of it through the dura mater and frontal cortex. The postoperative course was uncomplicated, vision was restored, and there were no neurologic deficits at the time of discharge on the 7th postoperative day with good postoperative outcomes. Clinical Discussion: Delayed removal of TPTBI may be complicated by misidentification of entry points, extensive scarring around the foreign body, adherence to the intracranial vessels, and increasing mortality due to infectious complications. Therefore, early exploration with the help of a multidisciplinary team will most likely result in successful debridement, good neurologic outcomes, and lower morbidity and mortality. Conclusion: Accurate diagnosis and early intervention for TPTBI may prevent possible infectious and neurologic complications.

Fatal exulceratio simplex (dieulafoy lesion) – a case report and review

AbstractA 64-year-old man involved in a low-speed vehicle crash was found at autopsy to have altered blood extending from his stomach to his rectum. Within the stomach a small arterial vessel opened onto the mucosa of the posterior wall of the antrum adjacent to the pylorus with no adjacent mucosal ulceration or malignancy. Histologic sections showed the typical appearances of a Dieulafoy lesion with a tortuous small arteriole within the submucosa extending to the gastric lumen with an overlying cap of recently formed clot. There were no injuries attributable to the vehicle collision. Death was due to a bleeding Dieulafoy lesion of the stomach with a background of cardiomegaly. Dieulafoy lesion of the stomach is a rare disorder accounting for only 1–2% of cases of acute gastrointestinal hemorrhage. Although its pathogenesis is poorly understood it is capable of producing life-threatening bleeding, as in the present case. The small size of the lesion may make it difficult to identify at the time of autopsy.

Chilaiditi Syndrome: An Incidental Finding on a Chest Radiograph in a Long-Term Ventilated Patient

Background: Chilaiditi syndrome is a situation with a structural impingement of the colon on the liver, leading to an elevated hemidiaphragm in the X-ray along with a gas-like ap-pearance in the right hemithorax. It is generally a benign disease that is managed conservatively upon diagnosis. Rarely, it can be a cause of intestinal obstruction. Chilaiditi syndrome was origi-nally named after Demetrius Chilaiditi, the Greek radiologist who first described the case in 1910 while working in Vienna. Case Presentation:: Here, we have described the case of a 76-year-old male who was admitted to our long-term care facility for chronic respiratory failure, and he was connected to mechanical ventilation via tracheostomy. He was having occasional bouts of constipation, and was on regular laxatives. In a CT chest film done because of very thick respiratory secretions and desaturation, an incidental finding of Chilaiditi syndrome was noted. The patient has been managed conservatively with laxatives and per-need enemas. Chilaiditi syndrome is a rare condition in which the colon interposes between the liver, right hem-idiaphragm, and the abdominal wall, causing occasional clinical symptoms. Conversely, radio-graphic findings without clinical symptoms are known to exhibit the Chilaiditi sign. The disease's prevalence is estimated to be somewhere between 0.025 and 0.28%. Conclusion: Chilaiditi syndrome is a syndrome that refers to the interposition of the colon upon the hepatic flexure. It is a very rare but a serious cause of constipation, resulting in severe symp-toms to the extent that they may warrant surgical intervention.

Successful Management of Complex Intestinal Tuberculosis with Ileal Perforation: A Case Report

Background: Intestinal tuberculosis (ITB) with ileal perforation represents a formidable challenge in the realm of extrapulmonary tuberculosis. This case report underscores the complexities inherent in managing such cases, highlighting the critical need for a multidisciplinary approach that integrates pharmacological and surgical interventions. Case presentation: A 57-year-old male presented with a history of both pulmonary and intestinal tuberculosis, complicated by ileal perforation. He had previously undergone a six-month course of anti-tuberculosis treatment and a laparotomy for ileal perforation repair. The patient's current presentation included abdominal pain, nausea, and vomiting, indicative of obstructive ileus. Diagnostic assessments revealed elevated inflammatory markers and imaging confirmed partial obstructive ileus and active pulmonary tuberculosis. The patient was managed with extended anti-tuberculosis therapy and intravenous antibiotics, resulting in significant clinical improvement and enhanced quality of life. Conclusion: This case report emphasizes the importance of early detection, comprehensive assessment, and individualized treatment plans in managing complex ITB cases. The successful outcome achieved in this case underscores the efficacy of a multidisciplinary approach that combines pharmacological and surgical interventions.

The Aortic Prosthesis and Aortic Valve Bioprosthesis Trombosis as a Late Complication in Patients after the Bentall Procedure Followed by a Valve-in-Valve Transcatheter Aortic Valve Implantation

Background: Valve-in-Valve (ViV) transcatheter aortic valve implantation (TAVI) has emerged as a viable therapeutic option for structural valve degeneration following surgical aortic valve replacement (SAVR) or prior TAVI. However, the understanding of long-term complications and their management remains limited. Case presentation: We present the case of a 69-year-old male with a history of ViV-TAVI, who presented with symptoms of non-ST elevation myocardial infarction (NSTEMI) and transient ischemic attack (TIA). Computed tomography (CT) revealed thrombosis of the ascending aortic graft and aortic valve prosthesis. Transthoracic echocardiography (TTE) further confirmed new valve dysfunction, indicated by an increase in the aortic valve mean gradient. Treatment with low-molecular-weight heparin (LMWH) resulted in partial thrombus resolution. The multidisciplinary Heart Team opted against coronary angiography and recommended the long-term administration of vitamin K antagonists (VKAs). Follow-up CT showed the complete resolution of the thrombus. Conclusions: Thrombosis of the aortic graft and aortic valve following ViV-TAVI may be attributed to alterations in blood flow or mechanical manipulations during the TAVI procedure, yet it can be effectively managed with VKA therapy. CT is a valuable tool in coronary assessment in patients with NSTEMI and aortic valve and/or aortic graft thrombosis.

Long-Term Survival of Patients with Adult T-Cell Leukemia/Lymphoma Treated with Amplified Natural Killer Cell Therapy

Background: Adult T-cell leukemia/lymphoma (ATL) is caused by human T-cell leukemia virus type 1 (HTLV-1) after a long latent infection. HTLV-1 induces the indolent or aggressive type of leukemia in 5% of HTLV-1 carriers. ATL, especially the aggressive type, is resistant to multi-agent chemotherapy. The indolent type often progresses to the aggressive type. Even in the most indolent-type cases, that is, smoldering ATL, the average survival time is 55.0 months. Case Presentation: Five patients with ATL were followed up for their clinical course after amplified natural killer cell (ANK) therapy. Four patients who received ANK therapy as first-line therapy achieved complete remission and showed long-term survival without aggressive conversion or relapse for more than 5 years. One patient was treated with multiagent chemotherapy due to acute exacerbation but relapsed 2 months later. She was subsequently treated with radiation and ANK therapy and survived for more than 6 years. Furthermore, ANK therapy enhanced the immune function of ATL patients to a level higher than that of normal individuals. Conclusions: ANK therapy has great potential as first-line treatment for ATL.

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months

Introduction: Kniest dysplasia is a rare skeletal disorder, characterized by mild dysmorphic features, cleft palate, short stature, short limbs, prominent joints, restricted joint mobility, hearing impairment, and ocular manifestations such as high-degree myopia, retinal detachment, and cataract. Typical radiological findings include platyspondyly, coronal clefts, and dumbbell-shaped long tubular bones. Case Presentation: Herein, we report on an 8-month-old boy who was referred to the pediatric genetic department due to narrow thorax and short extremities. He had mild dysmorphic features, cleft palate, narrow thorax, short extremities, and short stature. On radiographies, platyspondyly, hemivertebra, and dumbbell-shaped long tubular bones were detected. Clinical and radiological findings were consistent with Kniest dysplasia. Clinical exome sequencing was performed and revealed a heterozygous, pathogenic c.905C>T (p.Ala302Val) variant in the COL2A1 gene, confirming the initial clinical diagnosis. Discussion: Kniest dysplasia is a very rare skeletal dysplasia, and an accurate clinical diagnosis is important to provide the best possible follow-up.

Serum IgG4-Negative Focal Autoimmune Pancreatitis Type 1 That Was Difficult to Diagnose Preoperatively Even with Frequent Endoscopic Ultrasound-Guided Fine-Needle Aspiration and Fine-Needle Biopsy: A Surgical Case Report

Introduction: Focal autoimmune pancreatitis (AIP) without elevated serum IgG4 levels presents a diagnostic challenge compared to pancreatic tumors, often leading to surgical intervention. Case Presentation: We report a case of serum IgG4-negative focal AIP type 1 in a 52-year-old male. Despite repeated endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) and fine-needle biopsy (FNB), preoperative diagnosis was elusive. Initially, a 30-mm hypoechoic mass in the pancreatic head was detected by ultrasonography, with dynamic computed tomography revealing well-defined borders and homogeneous delayed enhancement. Serum IgG4 levels were within the normal range (115 mg/dL). Two EUS-FNAs and one EUS-FNB failed to provide a definitive diagnosis, leading to suspicion of a solid pseudopapillary neoplasm and subsequent pancreaticoduodenectomy. Postoperative histopathology confirmed focal AIP type 1 with IgG4-positive plasma cells. After 38 months, there is no recurrence, and serum IgG4 levels remain normal. Conclusion: Diagnosis of focal AIP, particularly when serum IgG4 is negative, warrants consideration despite its difficulty. Imaging findings, such as a well-defined mass with homogeneous delayed enhancement, should prompt evaluation for characteristic features like capsule-like rim, pancreatic duct penetration, and biliary tract wall thickening.

Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome with Multiple Drugs (Leflunomide and Cefuroxime): A Case Report

Background: Adverse Drug Reactions (ADRs) are unexpected reactions to a medicine administered in the correct manner and at the proper dosage. Drug Rash with Eosinophilia and Systemic Symptoms syndrome (DRESS syndrome) is a Severe Cutaneous Adverse Reaction (SCAR) type of ADR with complicated clinical features involving several organ systems of the body; frequently involved organs are the liver, kidney, lungs, and other organs. Prompt recognition and correct diagnosis, followed by withdrawal of the causative agent, can promote appropriate treatment, accelerate recovery, and reduce the related morbidity and mortality. Case presentation: We have, herein, presented a case of a 42-year-old female with a history of leflunomide intake for plantar fasciitis. The patient subsequently developed fever, gastrointestinal tract disturbance, facial edema, liver injury, skin rash, hematologic abnormalities (eosinophilia), hepatosplenomegaly, and lymph node enlargement. The probability of leflunomide-induced DRESS syndrome was rated as “definite”, with seven scores graded by RegiSCAR. The suspected causative agent was withdrawn, and the patient was managed symptomatically. Following her management and discharge, she again encountered similar complaints after administration of the cefuroxime tablet. The causality assessment of the reactions was done using the WHO-UMC scale and Naranjo’s assessment scale, and a “probable” reaction was found for both drugs. Conclusion: The presented case contributes to the existing global literature regarding exceptional clinical presentations. Leflunomide and cefuroxime drugs have the potential to cause DRESS syndrome. Thus, they should be handled cautiously, and if such a reaction occurs, it should be reported to the responsible authorities.

Severe Nodulocystic Acne Induced by Mercury-Containing Skin-Whitening Cream: A Case Report and Call for Public Awareness

Introduction: Skin-whitening products, often containing mercury, are used worldwide for cosmetic purposes but pose significant health risks. Mercury, a melanotoxin, can cause severe dermatological, renal, and neurological complications. Case Presentation: We report the case of a 27-year-old woman who developed severe nodulocystic acne due to chronic use of a mercury-containing skin-whitening cream. Treatment with isotretinoin and prednisolone led to significant improvement within 3 months. Conclusion: This case underscores the need for public awareness and stricter regulatory actions to prevent mercury-related health hazards from skin-whitening products.

Analysis of Diagnosis and Treatment Strategies for Parapharyngeal Space Tumors With Follicular Dendritic Sarcoma

Background: Parapharyngeal space tumor is a tumor that occurs in the parapharyngeal space. Parapharyngeal space tumors are uncommon, accounting for about 0.5% of head and neck tumors. Eighty percent of them are benign and 20% are malignant. The pathologic types of tumors are varied, mainly neurogenic tumors and salivary gland tumors. Follicular dendritic sarcomas are much rarer, with an inert biological behavior and a low-grade malignant sarcoma. Clinicians face difficulties in the management of this lesion. Therefore, a comprehensive analysis of the management of this disease is necessary. Case presentations: In May 2023, a 22-year-old male presented with pharyngeal discomfort, dysphagia, and sleep apnea. The patient underwent MRI which showed a rounded hypodense shadow with a size of 3.2×2.1×4.5 cm in the left lateral pharyngeal wall and a mass located in the posterior aspect of the left submandibular gland. After preliminary diagnosis of left parapharyngeal space tumor and left neck mass, the clinician performed transoral endoscopy-assisted resection of the left parapharyngeal space tumor and transcervical resection of the left cervical mass. The patient has been followed up without recurrence. Conclusions: This case provided a reference for the diagnosis and management of parapharyngeal space tumors. In particular, new insights into the diagnosis and management of a rare pathologic type were presented, which had the potential to improve the overall understanding of this disease.

Severe exacerbation of facial dermatitis with swelling following introduction of abrocitinib in a patient with atopic dermatitis

BackgroundAbrocitinib, an oral small-molecule Janus kinase 1 (JAK1) inhibitor, has been widely accepted for the treatment of moderate-to-severe atopic dermatitis (AD). Currently there is a paucity of data on the adverse events (AEs) after abrocitinib treatment, especially on rare events such as exacerbation of facial dermatitis, and their causal relationship and subsequent management remains poorly elucidated.Case presentationA 43-year-old female patient with moderate AD received dupilumab after failure of topical treatments. Facial dermatitis persisted and became refractory after dupilumab treatment, and the patient changed treatment to oral abrocitinib. Fifteen hours after the first dose of abrocitinib, she developed exacerbation of facial dermatitis with swelling. The patient was initially diagnosed as abrocitinib-induced hypersensitivity. However, a score of 3 of the Naranjo adverse drug reaction assessment indicates week correlation between abrocitinib therapy and exacerbation of facial dermatitis, and negative results from subsequent drug provocation test further suggests no causal relationship.ConclusionsThe present case report highlights the necessity of careful determination of abrocitinib-induced hypersensitivity, which should not be diagnosed simply based on the time sequence between drug exposure and symptom occurrence. In addition, caution should be exercised for drug withdrawal, especially when confirmative evidence is absent. Drug provocation test can be helpful and effective treatments could be continued unless severe AEs occur.

Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (AFP) serum level. AOA2 is due to coding mutations of the SETX gene, mapped to chromosome 9q34. Seldom noncoding mutations affecting RNA processing have been reported too. To date psychiatric symptoms have never been reported in AOA2. A 19 years-old man came to our attention for progressive gait ataxia debuted five years earlier. His past medical history was unremarkable, while his parents were consanguineous. On neurological examination, he had bilateral horizontal gaze-evoked nystagmus with hypometric saccades and saccadic horizontal smooth pursuit, appendicular ataxia, limbs and trunk myoclonic involuntary movements with hands' dystonic postures and dance of the tendons. Psychological evaluation described intrusive and obsessive thoughts experienced by the patient, then diagnosed as obsessive-compulsive disorder. Blood tests detected an elevated AFP level. Brain MRI showed cerebellar atrophy, while electroneuromyography revealed an axonal sensory-motor polyneuropathy. In the suspicion of a pathology belonging to the autosomal recessive cerebellar ataxias (ARCA) spectrum disorder, a direct search of point mutations by whole-exome sequencing was performed revealing a novel biallelic variant in SETX gene (c.6208+2dupT), which was classified as likely pathogenic. The present case expands the genotypic and phenotypic spectrum of AOA2, reporting a novel likely pathogenic SETX mutation (c.6208+2dupT) and highlighting an early psychiatric involvement in AOA2, suggesting the need for psychiatric assessment in these neurologic patients.