Pulmonary embolism (PE) with isolated homocysteinemia is a rare disease. The diagnosis demands a proper clinical workup. Timely diagnosis can prevent complications and provide a better quality of life for the patient. We present a young man with homocysteinemia with deep vein thrombosis (DVT), pulmonary embolism, and normal vitamin B12 and folate levels despite being treated with rivaroxaban.
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http://dx.doi.org/10.7759/cureus.1978 | DOI Listing |
Zhonghua Er Ke Za Zhi
June 2024
Children's Medical Center, Peking University First Hospital, Beijing 102600, China.
To investigate the clinical features and outcomes of adolescence-onset methylmalonic acidemia (MMA) and explore preventive strategies. This was a retrospective case analysis of the phenotypes, genotypes and prognoses of adolescence-onset MMA patients. There were 55 patients diagnosed in Peking University First Hospital from January 2002 to June 2023, the data of symptoms, signs, laboratory results, gene variations, and outcomes was collected.
View Article and Find Full Text PDFOrphanet J Rare Dis
April 2024
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Background: Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clinical findings. In recent years, advancements in next-generation sequencing, including whole-exome sequencing, have led to the incidental identification of dual diagnoses in patients. Herein we present the cases of five pediatric patients diagnosed with dual rare genetic diseases.
View Article and Find Full Text PDFFront Oncol
November 2022
Department of Neurosurgery, General Hospital of Northern Theater Command, Shenyang, China.
Introduction: As a rare type of cerebral venous thrombosis, isolated cortical vein thrombosis (ICVT) is easily misdiagnosed as brain tumor, especially in the cases with prominent signs of parenchymal brain lesions. Despite controversy concerning the efficacy and safety, anticoagulant treatment dominates in current therapeutic strategies for ICVT. As yet, surgical thrombectomy in the treatment of ICVT has not been reported.
View Article and Find Full Text PDFBMC Neurol
January 2021
Department of Neurology, Changzhou No.2 People's Hospital Affiliated to Nanjing Medical University, No.29, Xinglong Lane, Tianning District, Changzhou, 213004, Jiangsu, China.
Background: This study aimed to investigate the relationship between H-type hypertension and retinal vessel abnormalities.
Methods: Hypertensive patients were retrospectively enrolled in this study. According to plasma homocysteine (HCY), patients were divided into isolated hypertension and H-type hypertension groups.
Medicine (Baltimore)
September 2019
Second Department of Neurology, The Children's Hospital of Hebei Province.
Rationale: Subacute combined degeneration (SCD) is a disease caused by decreased vitamin B12 intake or metabolic disorders. It is more common in the elderly and rarely seen in children. Here, we report 2 pediatric cases of SCD in late-onset cobalamin C (CblC) deficiency.
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