The following case discusses the atypical presentation of a spontaneous esophageal rupture that presented as acute hypoxic respiratory failure in the emergency department. The patient initially arrived by ambulance with a chief complaint of non-radiating chest pain for approximately one hour. Within minutes after arrival, the patient became hypoxic and bradycardic, requiring supplemental oxygen. A computed tomography (CT) angiogram of the chest showed a pneumothorax, pneumomediastinum, and left lower lobe consolidations concerning for pneumonia. The patient was resuscitated in the emergency department, and a chest tube thoracostomy was performed. Upon admission to the hospital, an esophagogram with contrast showed an esophageal leak at the gastroesophageal junction with the contrast extending into the left pleural space which required surgical intervention. This case highlights the complicated nature and variable presentations of Boerhaave syndrome and the importance of stabilizing the airway, breathing, and circulation in a decompensating patient even when the etiology is not clear at the time of presentation.
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http://dx.doi.org/10.7759/cureus.27848 | DOI Listing |
Gac Med Mex
January 2025
Laboratorio de Reprogramación Celular y Enfermedades Crónico-Degenerativas, Department of Physiology, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Progressive supranuclear palsy (PSP) is a rare, atypical parkinsonism, characterized by the presence of intracerebral tau protein aggregates and determined by a wide spectrum of clinical features. The definitive diagnosis is postmortem and is identified through the presence of neuronal death, gliosis, and aggregates of the tau protein presented in the form of neurofibrillary tangles (MNF) with a globose appearance in regions such as the subthalamic nucleus, the substantia nigra, and the globus pallidus The findings in ancillary imaging studies, as well as fluids biomarkers, are not sufficient to support diagnosis of PSP but are used to rule out similar pathologies because there are still no specific or validated biomarkers for this disease. The current treatment of PSP is focused on reducing symptoms, although emerging therapies seek to counteract its pathophysiological mechanisms.
View Article and Find Full Text PDFJ Neurosurg Case Lessons
January 2025
Neurosurgery Department, Palmetto General Hospital, Hialeah, Florida.
Background: Astroblastoma is an extremely rare tumor of the central nervous system, and its origin and validity as a different entity are still being debated. Because of its rarity and similarities to other glial neoplasms, it is often misdiagnosed, impacting treatment and outcomes.
Observations: Astroblastoma is very rare and mainly affects children and young adults.
Rev Esp Enferm Dig
January 2025
Digestive Diseases, Hospital Universitario Virgen de las Nieves, España.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
December 2024
Department of Emergency, Peking University People's Hospital, Beijing, China.
Secondary hemophagocytic lymphohistiocytosis (sHLH) is a rare, rapidly progressive and highly lethal disease. This retrospective cohort study aims to analyze the factors influencing the mortality risk in adult patients with sHLH, which are instrumental to improving our understanding of the high mortality risks associated with sHLH. This study included 85 patients diagnosed with sHLH who were admitted and treated in the Department of Emergency, Peking University People's Hospital between April 2015 and July 2023.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
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