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Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.
Acta Neurol Belg
January 2025
Department of Pediatrics, Neurology Unit, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.
Case Report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait.
Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFMycoplasma Pneumonia Complicated by Stevens-Johnson Syndrome: A case report.
Respir Med Case Rep
July 2024
Faculty of Medicine, Beirut Arab University, Beirut, Lebanon.
Mycoplasma pneumoniae is a leading cause of a community-acquired respiratory illness occurring in children with manifestations occurring throughout the year but peaking in summer and early fall. Predominantly affecting school-aged children, the infection presents as pneumonia, featuring fever, cough, dyspnea, and sore throat. Extrapulmonary manifestations such as Stevens-Johnson have been rarely associated with mycoplasma pneumoniae infection presenting with ocular, oral, and genital involvement.
View Article and Find Full Text PDFAtypical conjunctival sporotrichosis secondary to Mooren's ulcer: a case report.
BMC Infect Dis
January 2025
Liaoning Provincial Key Laboratory of Cornea and Ocular Surface Diseases, Liaoning Provincial Optometry Technology Engineering Research Center, The Third People's Hospital of Dalian, Dalian Municipal Eye Hospital, Dalian Municipal Cancer Hospital, No. 40, Qianshan Road, Ganjingzi District, Dalian, Liaoning, China.
Background: Conjunctival sporotrichosis is a rare fungal infection, typically presenting as granulomatous lesions. Its manifestations can be atypical, particularly in immunosuppressed patients. Here, we present a rare case of a Mooren's ulcer patient with bulbar conjunctival Sporotrichosis presenting as a salmon-pink tumor.
View Article and Find Full Text PDFMultidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
Orphanet J Rare Dis
January 2025
Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.
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