An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2017.77
Abstract: Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome… read more here.
Keywords: delayed myelination; myelination; case spg56; spastic paraplegia ... See more keywords
An Atypical Case of Atypical Hemolytic Uremic Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001209
Abstract: We present the case of a 2-month-old infant presenting with pallor and laboratory results showing: hemoglobin 5.1 (10 to 1.5) g/dL, MCV 94.7 (75 to 105) fL, leukocytes 17.4 (7 to 15) ×10/μL, platelets 259 (150 to 450) ×10/μL,… read more here.
Keywords: atypical case; uremic syndrome; hemolytic uremic; atypical hemolytic ... See more keywords
An Atypical Case of Idiopathic Purpura Fulminans
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002497
Abstract: Idiopathic purpura fulminans (PF) is rare but has been reported in pediatric patients, commonly following infections. We present a case of a 5-year-old boy, heterozygous for factor V Leiden, with no history of recent infections,… read more here.
Keywords: purpura fulminans; idiopathic purpura; case; case idiopathic ... See more keywords
Forgotten disease: an atypical case of Lemierre syndrome presenting as a soft tissue abscess
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-242468
Abstract: Lemierre syndrome (LS) is an acute oropharyngeal infection with secondary septic thrombophlebitis and distant septic embolisation. A 29-year-old woman with sore throat, dyspnoea and left shoulder pain, who was on levofloxacin for 3 days, presented with… read more here.
Keywords: abscess; disease atypical; forgotten disease; lemierre syndrome ... See more keywords
An Atypical Case of Mucocutaneous Blastomycosis in the Greater Toronto Area
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Cutaneous Medicine and Surgery"
DOI: 10.1177/1203475416686928
Abstract: Blastomycosis is an uncommon infection caused by Blastomyces dermatitidis. While management is fairly straightforward, diagnosis can be quite challenging. We describe a case of a healthy 37-year-old man who presented with progressive mucocutaneous lesions, without… read more here.
Keywords: mucocutaneous blastomycosis; case; case mucocutaneous; blastomycosis ... See more keywords
An Atypical Case of Monomicrobial Clostridioides difficile Septicemia With No Gastrointestinal Manifestations
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular and Infection Microbiology"
DOI: 10.3389/fcimb.2022.853252
Abstract: An uncommon case of monomicrobial Clostridioides difficile septicemia in a 63-year-old man was reported in Zhejiang, China. Once diagnosed, vancomycin treatment cleared the infections. The patient had no remarkable medical history, and the inspection showed… read more here.
Keywords: clostridioides difficile; difficile septicemia; monomicrobial clostridioides; atypical case ... See more keywords