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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFExtra-Cavitary Primary Effusion Lymphoma in a Patient Co-infected With HIV-1 and HIV-2: A Case Review.
Cureus
December 2024
Infectious Diseases, Hospital Garcia de Orta, Lisbon, PRT.
Extra-cavitary primary effusion lymphoma (PEL), often associated with human herpes virus 8 (HHV8) infection, represents a rare and aggressive form of non-Hodgkin lymphoma, which is predominantly found in individuals with severe immunosuppression. As an acquired immunodeficiency syndrome (AIDS)-associated lymphoma, PEL typically manifests in the context of advanced human immunodeficiency virus (HIV) infection, requiring tailored therapeutic approaches to manage both the lymphoma and underlying immunodeficiency. A 53-year-old male patient from Cape Verde presented with a three-day history of fever, night sweats, right iliac fossa pain, hematochezia, and an unintentional weight loss of five kilograms over the previous two months.
View Article and Find Full Text PDFUnmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia.
AACE Clin Case Rep
August 2024
Department of Endocrinology, Endocrine Associates of West Village, New York City, New York.
Background/objective: Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications.
Case Report: A 45-year-old Hispanic female presented with serum triglyceride levels of 749 mg/dL, refractory to rosuvastatin 10 mg daily and omega-3 ethyl esters 2 g daily.
Sialidosis type 1 in a Turkish family: a case report and review of literatures.
J Pediatr Endocrinol Metab
December 2024
Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.
Objectives: Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay.
View Article and Find Full Text PDFSystemic hydroa vacciniforme lymphoproliferative disorder in a patient with chronic active EBV infection.
BMJ Case Rep
December 2024
Dermatology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
Hydroa vacciniforme lymphoproliferative disorders (HVLPD) fall within the clinical spectrum of chronic active epstein barr virus (EBV) disease (CAEBVD), ranging from localised and/or indolent forms (classic HVLPD) to systemic disease with fever, hepatosplenomegaly and lymphadenopathy (systemic HVLPD). A preadolescent male with 47XYY, multicystic dysplastic kidney, autism spectrum disorder and Attention-deficit/hyperactivity disorder (ADHD) presented with photodistributed non-pruritic, non-painful necrotic papulovesicles accompanied by non-febrile intermittent fatigue and lymphadenopathy. The patient had a history of EBV pneumonia in infancy confirmed by CT scan and was later diagnosed with CAEBV.
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