Background: Immune checkpoint inhibitor-induced (ICI) myasthenia gravis (MG) is rare but may present as a fulminant overlap syndrome with myositis and myocarditis. Case Presentation: A 63-year-old man with carcinoma of the oral cavity receiving Toripalimab presented with fluctuating ptosis, dysarthria, dysphagia, generalized weakness, and breathlessness. He developed type 2 respiratory failure requiring non-invasive ventilatory (NIV) support. Anti-AChR and anti-MuSK antibodies were negative, and RNST was non-decremental. Creatinine Kinase (CK), Serum Glutamic Pyruvic Transaminase (SGPT), and Serum Glutamic-Oxaloacetic Transaminase (SGOT) were elevated, supporting myositis. High-sensitivity troponin I, CPK-MB, and NT-proBNP were raised, supporting myocarditis overlap. Imaging excluded major alternate central and thromboembolic causes. He was treated with immunomodulatory therapies (intravenous methylprednisolone and immunoglobulin-IVIG). Conclusion: ICI-induced seronegative MG with myositis-myocarditis (MMM syndrome) overlap should be suspected in patients receiving PD-1 inhibitors who develop acute ocular-bulbar weakness and respiratory decline, even when antibody and electrophysiologic studies are negative. Early recognition is critical because... Continue Reading

Background: Sarcoidosis, as a rare disease, affects 0.01% of the population; involvement of the central nervous system is even less common. Case presentation: A 46-year-old man suffering from ulcerative colitis and epilepsy was hospitalized in the neurology department due to progressive, ascending paresthesia and quadriplegia accompanied by sphincter and balance disorders. Magnetic resonance imaging revealed extensive edematous changes extending from the medulla oblongata to the Th7 level and multiple enlarged mediastinal lymph nodes. Diagnostic workup was expanded to include a contrast-enhanced computed tomography scan of the chest, which revealed numerous enlarged lymph nodes in the mediastinum and scattered small nodular lesions in the lung parenchyma. After performing a histopathological examination of the subcarinal lymph node biopsy material, a diagnosis of sarcoidosis was made. The patient was diagnosed with longitudinal extensive transverse myelitis (LETM) in the course of probable neurosarcoidosis and was treated showed clinical improvement following treatment. Conclusion: Although central... Continue Reading

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Background: Speech impairment following traumatic brain injury (TBI) often persists despite conventional rehabilitation. Case Presentation: A 61-year-old woman developed severe speech impairment, right-hand weakness, and severe back pain after a traffic accident and neurosurgery in late 2025. Three months later, neurological deficits remained with minimal spontaneous recovery. Management and Outcome: Sujok therapy was administered by a certified Sujok therapist beginning on January 26, 2026. Treatment targeted the brain, spinal, and mouth correspondence areas using standardized hand correspondence points and Triorigin color therapy. Clinical outcomes were evaluated over three sessions within one week. Back pain decreased from a Numeric Rating Scale (NRS) score of 10 to 5 after the first session and resolved completely within two days. Speech improved progressively to fluent sentence-level communication by day five, while right-hand motor weakness improved to an NRS score of 3. Conclusion: In this patient with persistent post-traumatic neurological deficits, Sujok therapy was temporally... Continue Reading

Background: Purulent bacterial pericarditis is an exceptionally rare but rapidly progressive cause of acute pericarditis in the modern antibiotic and pneumococcal vaccination era. Despite its low incidence, delayed recognition carries a high risk of cardiac tamponade, septic shock, constrictive pericarditis, and death. Case Presentation: We report the case of a 64-year-old man with pulmonary and hepatic sarcoidosis and well-controlled human immunodeficiency virus (HIV) infection receiving highly active antiretroviral therapy with an undetectable viral load, who presented with pleuritic chest pain and progressive dyspnea. Initial evaluation demonstrated diffuse ST-segment elevations on electrocardiogram and a moderate pericardial effusion without tamponade physiology on transthoracic echocardiography. Computed tomography revealed multifocal pneumonia, prompting empiric antimicrobial therapy. Despite initial management, the patient rapidly deteriorated with hypotension and acute hypoxic respiratory failure. Repeat echocardiography demonstrated evolving cardiac tamponade, necessitating emergent pericardiocentesis. Blood cultures and pericardial fluid cultures both yielded Streptococcus pneumoniae, confirming purulent pneumococcal pericarditis and allowing... Continue Reading

Background: Endobronchial Ultrasound (EBUS) for diagnostic and therapeutic purposes can be performed under moderate sedation, deep sedation and general anesthesia. In selected patients, general anesthesia is employed either owing to patient co-morbids or specific procedural requirements. Case Presentation: This is case of a 69 years old male who required diagnostic EBUS for right hilar mass which was abutting and compressing major thoracic vasculature. Owing to requirement of precision for biopsy and background history of COPD, general anesthesia was employed with micro laryngeal tube, which transglottic approach was used for EBUS scope intubation Conclusion: Transbronchial technique can be safely using for EBUS under general anesthesia Continue Reading

Background: Multiple primary early-stage esophageal cancer is not uncommon in patients with head and neck squamous cell carcinoma, but simultaneous four foci of early-stage esophageal cancer after tongue cancer surgery is rarely reported. Case Presentation: A 67-year-old male with a history of left tongue base well-differentiated squamous cell carcinoma (pT1N0M0) treated by radical surgery in 2018 presented with dysphagia in October 2024. Gastroscopy revealed four separate iodine-unstained areas in the esophagus. All four lesions were completely resected by endoscopic submucosal dissection (ESD) in a single procedure. Postoperative pathology confirmed that three lesions were pT1a (invasion into the lamina propria mucosa) and one lesion was pT1b (invasion into the submucosa, approximately 0.2 mm), all being moderately differentiated squamous cell carcinoma with negative margins. Due to the pT1b lesion, the patient received adjuvant radiotherapy (50 Gy/25 fractions). At 1.5 years post-surgery, follow-up CT, esophageal barium meal, and serum squamous cell carcinoma antigen... Continue Reading

Background : TRRAP-related neurodevelopmental disorder is a rare and incompletely characterized condition. Additional cases are needed to refine its clinical spectrum, especially in patients carrying non-missense variants. We report two unrelated adult Moroccan women with heterozygous TRRAP variants, including one previously unreported frameshift variant. Case presentation : The first patient was a 21-year-old woman with syndromic intellectual disability, attention-deficit/hyperactivity disorder, facial dysmorphism, digital anomalies, white matter abnormalities, hydronephrosis in a malrotated kidney, and a bicornuate bicervical uterus. Whole exome sequencing identified a novel heterozygous TRRAP frameshift variant, c.4796dup, p.(Leu1599PhefsTer63). The second patient was a 30-year-old woman with syndromic intellectual disability, epilepsy beginning at 14 months of age, congenital atrial and ventricular septal defects, facial dysmorphism, and mild ventriculomegaly. Initial exome analysis was non-diagnostic, but reanalysis two years later identified a heterozygous TRRAP missense variant, c.2686G>A, p.(Gly896Ser). Conclusion :  These cases contribute to the phenotypic and molecular spectrum of TRRAP-related neurodevelopmental disorder... Continue Reading

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Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening thrombotic microangiopathy (TMA) primarily driven by uncontrolled activation of the alternative complement pathway. Genetic mutations in complement regulatory proteins are identified in the majority of cases, highlighting the hereditary nature of the disease. Case Presentation: This report is the case of a male in his late 40s with a solitary kidney (following a prior living donor nephrectomy for his father) who presented to an outpatient nephrology clinic with worsening renal function and thrombocytopenia. After ruling out underlying secondary causes, genetic testing confirmed a mutation associated with aHUS. Despite the nephrologist prescribing targeted anti-complement therapy, insurance authorization was denied. The patient was referred to a specialty clinic and is currently undergoing close monitoring to determine if his clinical state warrants treatment with complement inhibitor medication. Conclusion: This case highlights the clinical complexities of managing adult-onset hereditary aHUS, particularly in vulnerable patients... Continue Reading

Left ventricular free wall rupture (LVFWR) is a rare but catastrophic mechanical complication of acute myocardial infarction (AMI), carrying a high mortality rate despite advances in reperfusion therapy. We report the case of a 60-year-old man, with a history of Bentall procedure, who presented with acute pulmonary edema five days after the onset of chest pain. Electrocardiography suggested a late-presenting anterior ST-segment elevation myocardial infarction, while coronary angiography demonstrated thrombotic occlusion of the ostial left anterior descending artery. Transthoracic echocardiography identified subacute LVFWR with pseudoaneurysm formation, and the diagnosis was confirmed by computed tomography. Owing to prohibitive surgical risk, conservative management was selected. The patient subsequently developed cardiogenic shock and died three days later. This case highlights the importance of early recognition of LVFWR using multimodality imaging and underscores the persistently poor prognosis of this rare but fatal mechanical complication of AMI.   Continue Reading

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Background: Papillary fibroelastoma is a benign cardiac tumor that most often arises from the valves. Although usually small, a mobile left-sided lesion can be clinically important because of its embolic potential. Case Presentation: A 73-year-old woman with no major cardiovascular risk factors other than age was referred after an ischemicstroke of undetermined origin. Brain imaging had shown bilateral thalamic infarction. Imaging of the supra-aortic vessels was unremarkable, and both 24-hour and prolonged rhythm monitoring showed no atrial fibrillation. Her history was also notable for a separate episode of acute intestinal ischemia requiring emergency surgery. At laparotomy, ~150 cm of necrotic small bowel was found.No adhesive band was identified, and the necrotic segment was resected. Because the cerebral event remained unexplained, transesophageal echocardiography was performed. It demonstrated a solitary, irregular, highly mobile mass measuring about 8 mm near the commissure between the noncoronary and left coronary cusps of the aortic valve... Continue Reading

Background: Hypertrophic cardiomyopathy (HCM) due to sarcomeric variants shows age-dependent penetrance and wide intrafamilial variability. The MYH7 p.Arg719Gln variant has been labelled “malignant,” a label current guidelines no longer support because genotype is excluded from validated sudden cardiac death (SCD) risk models. Case Presentation: A four-generation Moroccan family was referred after five premature sudden deaths in young relatives. The pathogenic MYH7 c.2156G>A (p.Arg719Gln) variant, first identified in the proband, was found in seven relatives (five female). Only the three adults (all women) met diagnostic criteria for HCM (non-obstructive hypertrophy, maximal septal thickness 15.5–17 mm). The four younger carriers did not: two children had sub-diagnostic septal z-scores (≈1.5 and ≈1.0) and two had no hypertrophy, yet the youngest showed markedly increased ECG voltage out of proportion to wall thickness. Non-carriers were released from surveillance. Conclusion: This family shows both the yield and the limits of cascade testing. Because none of the... Continue Reading

Poisoning with herbicides pose a diagnostic and therapeutic challenges in agricultural settings. Distinct toxicodynamic profiles and management strategies have been described among various major herbicide classes, despite overlapping clinical features. Paraquat is highly lethal herbicide with high mortality rate. Acute liquid herbicide poisonings are frequently presumed to be paraquat because of its high prevalence and notorious mortality rate, creating mis-classification when the actual culprit is 2,4-Dichlorophenoxyacetic acid (2,4-D). Such mis-classification and delayed identification of specific herbicide compound ingested may cause preventable therapeutic errors, particularly delaying urinary alkalinization protocol in 2,4-D poisoning. Therefore, this letter highlights the importance of compound specific management in herbicide poisoning rather than class-based management.  Continue Reading

Background: Dysphagia aortica is a rare cause of esophageal dysphagia resulting from extrinsic compression by an abnormal thoracic aorta. It predominantly affects older individuals and may cause severe esophageal narrowing. Case Presentation: A 29-year-old man presented with acute dysphagia, regurgitation, chest discomfort, and inability to tolerate oral intake following solid food ingestion. Urgent upper gastrointestinal endoscopy revealed an impacted esophageal food bolus, which was successfully removed, providing immediate symptomatic relief. Subsequent examination demonstrated marked esophageal narrowing caused by apparent extrinsic compression without an intrinsic obstructing lesion. Contrast-enhanced computed tomography (CECT) with three-dimensional vascular reconstruction identified a large saccular lesion, described as a descending thoracic aortic aneurysm, measuring approximately 4.8 × 5.3 × 4.7 cm at the carinal level, with mural thrombus and adjacent hematoma. The lesion extended posteriorly behind the esophagus, producing significant compression, anterior displacement, and proximal dilatation. No active contrast extravasation was reported. Dysphagia aortica was diagnosed based... Continue Reading

Background: Graves disease is an autoimmune condition. Simultaneous occurrence of Graves dermopathy and thyroid eye disease is a rare extrathyroidal manifestation. Here we present such a case and its improvement during the treatment. Case Presentation: A 47-year-old woman with skin rash, pruritus, extremity swelling, tachycardia, proptosis with worsening vision, was previously examined by a dermatologist and was referred to an endocrinologist. She reported lesions on the lower and upper extremities. Laboratory findings revealed the following: suppressed thyroid-stimulating hormone, elevated free thyroxine, elevated anti- thyroid peroxidase, markedly elevated thyrotropin receptor antibodies of >40 IU/L (n≤1.75 IU/L). Skin biopsy demonstrated histopathological findings consistent with thyroid dermopathy. As a result of examination, she was diagnosed with Graves disease and was administered methimazole, pantoprazole, propranolol, prednisolone. Smoking cessation was advised. 1 month after starting treatment, her symptoms had decreased. Among these, the swelling and lesions over the extremities resolved. Only exophthalmos persisted. Conclusion: The report... Continue Reading