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: 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 : 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: 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: 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