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Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder characterized by increased bone density involving diaphyses of long bones and defective hematopoiesis. It is due to biallelic variants in the TBXAS1 (OMIM*274180) gene, which encodes for thromboxane synthase. We present a rare case of a middle-aged woman who presented with chronic anemia and bone pain. About 31-year-old Southeast Asian female with a history of persistent iron deficiency anemia (6.1 gm/dL) presents with bilateral knee pain for 4 years. Autoimmune panel turned out to be negative. CT scan of the lower limbs showed multilamellated endosteal thickening specifically involving diaphyses with severe narrowing of medullary canal. PET CT scan revealed tubular remodeling, intramedullary ground glass matrix, and mild cortical thickening with increased FDG uptake in diaphyseal regions of femur and tibia. Bone marrow biopsy of left tibia revealed fibrocellular marrow with dyserythropoiesis. Considering the slow progression of illness over 4 years and radiological evidence suggestive of bone remodeling with severe narrowing of medullary canal as the cause of anemia, the patient underwent molecular analysis for GHDD. Results revealed homozygous p.Arg412Gln (exon 11) in TBXAS1 gene. Considering the effect of NSAIDs on cyclooxygenase and its downstream metabolites, oral Aspirin 150 mg/day was initiated. Hemoglobin improved to 11 gm/dL at 3-month follow-up visit. The complexity of reaching a diagnosis of GHDD underscores the importance of maintaining a high clinical suspicion and thorough analysis of radiological evidence. The treatment for GHDD involves aspirin, a readily available drug.
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Background: Rapid screening tools such as the WHO well-being Index (WWBI), Six-item screener (SIS), and the CLOX-1 test can be used to assess overall mental health and cognition, respectively. We sought to evaluate mental health with cognition in individuals with chronic diseases and stable vital signs presenting to the Emergency Department (ED). Methods: An observational study in the ED with 279 participants was conducted. Results: Chronic diseases were more prevalent among 51-70 years (43.4%) and diabetes was most common (58.8%). Fever (22.6%) and GI bleeding (32.6%) presentation were high. Participants with low WWBI had low SIS compared to the ones with higher scores (83.3% vs. 17.7%, p < 0.001) and also had low CLOX-1 compared to ones with high CLOX-1 (67.3% vs. 5%, <0.001). A positive correlation between WWBI with SIS (correlation coefficient = 0.305, p < 0.001) and CLOX-1 (0.441, <0.001). Regression analysis indicates a positive association between WWBI and the SIS (standardized regression coefficient = 0.187, 95%CI = 0.236-1.426, and p = 0.006) and CLOX 1 (0.338, 0.2-0.463, <0.001). Conclusion: In the ED, the evaluation of mental health even among cognitive impaired is feasible and crucial.
Sujet(s)
Troubles de la cognition , Dysfonctionnement cognitif , Humains , Maladie chronique , Troubles de la cognition/diagnostic , Service hospitalier d'urgences , Santé mentale , Adulte d'âge moyen , Sujet âgéRÉSUMÉ
Bilothorax, an exudative pleural effusion due to the accumulation of bile. It is also called cholethorax or thoracobilia and was initially reported in 1971. Here, we report a rare case of an elderly male presenting with bilateral bilothorax due to esophageal rupture. A 78-year-old man with multiple medical ailments presented to the emergency room (ER) with a severe episode of vomiting accompanied by a popping sound, respiratory distress, and right sided chest pain. The patient had tachycardia, BP of 101/89 mm Hg, and tachypnea. Computed tomography scan of the chest and abdomen revealed air adjacent to the esophagus, suggesting perforation, atelectasis of right lung, and bilateral pleural effusion (R > L). However, an esophagram did not reveal any perforation. Right-sided chest tube drained dark green bilious fluid. The day after admission, he experienced hemodynamic compromise and hypoxemia requiring intubation, along with fluids and inotropes support. Diagnosis of bilateral bilothorax complicated by hypoxemic respiratory failure with septic shock was made. Cultures were drawn, and empiric antibiotics were started. Nuclear hepatobiliary scan (HIDA) was performed to rule out a hepatobiliary fistula. Results showed reflux activity in the stomach, and distal esophageal leak was identified. Gastrojejunal stenting was performed. However, after prolonged intubation, the family decided on terminal extubation, and he died while receiving hospice care. This case highlights the rarity of bilateral bilothorax, where the HIDA scan played a crucial role in identifying an esophageal leak as the underlying cause, despite normal esophagram results. This condition necessitates prompt diagnosis and aggressive therapeutic interventions.
Sujet(s)
Imino-acides , Épanchement pleural , Humains , Mâle , Sujet âgé , Épanchement pleural/étiologie , Oesophage/imagerie diagnostique , Tomodensitométrie , BileRÉSUMÉ
INTRODUCTION: Extrapulmonary tuberculosis (EPTB) adds to India's significant economic burden, with pericardial effusion being a potentially fatal complication. This case report highlights the need for early diagnosis and the feasibility of shorter-duration treatment for EPTB in developing countries. PRESENTATION: This case report describes a 19-year-old male from Southeast Asia who had a history of bronchiectasis involving the left lower lobe and the right middle lobe, which was cystic in nature, as well as multiple episodes of non-tuberculous pneumonia. Currently, he presented with fever, hypotension, tachycardia, and acute kidney injury. Echocardiogram showed left ventricular dysfunction with a left ventricular ejection fraction (LVEF) of 45% and moderate pericardial effusion. Early signs of cardiac tamponade were noted, specifically the absence of respiratory variation in the right ventricle and left ventricle collapse. Emergent pericardiocentesis was performed, and hemorrhagic pericardial fluid was aspirated. Fluid analysis revealed high levels of LDH (5000 U/L), polymorphonuclear leukocytosis, and acid-fast bacilli that were visualized on microscopy, which led to the diagnosis of pericardial tuberculosis. A CT of the abdomen showed hepatosplenomegaly and polyserositis. Empirically, antitubercular therapy consisting of isoniazid, rifampin, pyrazinamide, and ethambutol was administered for 2 months and isoniazid along with rifampicin was given for the next 4 months. Serial echocardiograms in the following months showed an improvement in LVEF (55%) and decreased effusion. However, during this treatment period, due to frequent episodes of pneumonia, the evaluation of immunodeficiency disorders was performed and revealed low levels of IgG (4.741 g/L), IgA (0.238 g/L), and IgM (0.098 g/L). He was diagnosed with common variable immunodeficiency disease and received intravenous immunoglobulin therapy. CONCLUSION: This report emphasizes the timely identification of cardiac tamponade and the effective management of EPTB through a shorter-than-recommended course of antitubercular therapy, resulting in the alleviation of symptoms and better overall health outcomes.
Sujet(s)
Tamponnade cardiaque , Épanchement péricardique , Pneumopathie infectieuse , Tuberculose extrapulmonaire , Humains , Mâle , Jeune adulte , Antituberculeux/usage thérapeutique , Tamponnade cardiaque/étiologie , Isoniazide , Épanchement péricardique/étiologie , Pneumopathie infectieuse/traitement médicamenteux , Rifampicine , Débit systolique , Fonction ventriculaire gaucheRÉSUMÉ
Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi, a Gram-negative bacillus, commonly occurring in the Asia-Pacific region. It is transmitted to humans by the bite of an infected Leptotrombidium mite and the bacterium causes endothelial dysfunction resulting in widespread vasculitis and the possible development of thrombocytopenia, meningitis, acute respiratory distress syndrome, and infrequently, myocarditis. Early diagnosis and prompt treatment are crucial in managing scrub typhus. Here, we present four cases of scrub typhus with a comprehensive literature review. This study highlights the significance of considering scrub typhus as a possible diagnosis in patients of all ages from endemic regions who exhibit symptoms such as fever, thrombocytopenia, or transaminitis, even in the absence of typical clinical features. Two cases exhibited the characteristic lesion of eschar at the site of mite feeding. One case involved a middle-aged woman who was diagnosed with typhus-induced myocarditis with left ventricular dysfunction. Another case involved a 23-day-old neonate with poor feeding and seizures, who was diagnosed with late-onset sepsis with meningitis. Scrub typhus was confirmed in all cases using a positive qualitative IgM ELISA. However, it is preferred to use paired (ELISA before and after antibiotic therapy) or quantitative titers for confirmation. Healthcare providers must consider the patient's exposure history and clinical presentation to diagnose and treat scrub typhus promptly.
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This case report highlights the use of point-of-care ultrasound (POCUS) for the diagnosis of ventricular septal rupture (VSR), a severe consequence of acute myocardial infarction (AMI). VSR has a broad spectrum of signs and inconspicuous symptoms, making the diagnosis difficult. POCUS offers non-invasive, real-time cardiac imaging and has an advantage over other methods due to its ability to identify VSR early. Here we present a 63-year-old female with a history of type 2 diabetes, hypothyroidism, hyperlipidemia, and a family history of cardiovascular disease, who came to the ED with chest pain for three days, palpitations, and dyspnea at rest. On examination, the patient was hypotensive, tachycardic, and had crackles with a harsh holosystolic murmur. An EKG and elevated troponin levels suggested acute on chronic anterior-lateral wall ST-elevation myocardial infarction (STEMI). Resuscitation efforts were initiated, followed by a lung ultrasound that revealed good lung sliding and multiple B lines without pleural thickening, indicating pulmonary edema. Echocardiography revealed ischemic heart disease with moderate left ventricle (LV) systolic dysfunction and a 14 mm apical ventricular septal rupture (hypokinetic thinning of the anterior wall, septum, apex, and anterolateral wall with a left ventricular ejection fraction (LVEF) of 39%). The presence of flow on color Doppler across the interventricular septum, showing left-to-right shunting, led to a definitive diagnosis of acute-on-chronic myocardial infarction (MI) with ventricular septal rupture. The case report also emphasizes how modern AI applications like ChatGPT (OpenAI, San Francisco, California, United States), aid in language and research, saving time and redefining the healthcare and research industry. As a result, we are confident that AI-assisted healthcare will be the next global breakthrough.
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Multiple cranial nerve palsies frequently accompany hypoglossal nerve palsy, potentially indicating malignancy, such as lymphoma, nasopharyngeal carcinoma, or metastases. However, when solely the hypoglossal nerve is affected, the causes may involve Chiari malformation, arachnoid cyst, or infectious mononucleosis, suggesting a positive prognosis. Craniocervical junction tuberculosis (TB), is an uncommon cause of isolated hypoglossal nerve palsy and has been reported infrequently in the literature. Craniocervical junction tuberculosis accounts for only 0.5% of TB cases overall and 6% of extra-pulmonary TB cases. We present here one such case of a 17-year-old male of Indian origin with a subacute history of tongue deviation and neck pain. Additionally, the patient reported loss of weight and appetite. The patient had significant posterior cervical lymphadenopathy. Neurological examination revealed findings suggestive of right peripheral hypoglossal nerve involvement. Blood investigations showed lymphocytosis along with an elevated erythrocyte sedimentation rate of 45 mm/h and elevated lactate dehydrogenase levels of 325 U/L. Tuberculin skin testing was positive and sputum acid-fast staining confirmed acid-fast bacilli. Magnetic Resonance Imaging of the cervical spine revealed a soft tissue component in the prevertebral space measuring 3.5×4.8 cm with a right paraspinal component adjoining the hypoglossal canal with peripheral contrast enhancement. Histological findings on the lymph node showed granulomatous lymphadenitis, suggestive of tuberculosis. The patient was started on 4-drug anti-tubercular therapy consisting of Isoniazid, Rifampicin, Pyrazinamide, and Ethambutol for a period of 18 months. He was subsequently followed up for 6 months till the resolution of palsy. This case emphasizes the importance of thorough evaluation and a meticulous workup to identify the underlying cause of hypoglossal nerve palsy and the importance of considering tuberculosis as a potential cause of isolated hypoglossal nerve palsy in everyday practice.
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Trichobezoars are concretions of retained, undigested material, mostly hair or hair-like fibers in the stomach. Rapunzel syndrome is the condition when trichobezoars extend into the small bowel, leading to various complications including bowel obstruction, and perforation due to pressure necrosis. We present an interesting case of trichobezoar in a 15-year-old female patient, who presented with abdominal pain for one month duration. The exam was notable for a firm palpable mass in the epigastric area associated with localized tenderness and guarding. Contrast-enhanced CT of the abdomen showed a distended stomach with the bezoar, dilated duodenal loops, and clumping of proximal jejunal loops. Upper gastrointestinal endoscopy showed a trichobezoar extending from the oesophagogastric junction to the pylorus. Endoscopic removal of the trichobezoar was not successful. An elective laparotomy was performed, during which the stomach, duodenum, and proximal jejunum were dilated. The trichobezoar, measuring 35 cm in length, extended from the body of the stomach to the proximal jejunum and caused jejunal perforation due to pressure necrosis. The trichobezoar was removed and primary closure of jejunal perforation with diversion gastrojejunostomy and jejunostomy was done. There were no postoperative complications. The patient followed up with psychiatry in the clinic after discharge, she was diagnosed with trichotillomania and started on fluoxetine, with improvement in her behavioral symptoms. In young female patients with nonspecific chronic abdomen pain and a palpable mass, trichobezoar should be considered in the differential diagnosis. Contrast-enhanced abdomen CT is the preferred imaging modality and removal of the trichobezoar with an appropriate endoscopic or surgical procedure is the treatment of choice. It is essential to diagnose and treat the underlying behavioral condition to prevent recurrent episodes.