Cauda equina syndrome in a patient diagnosed with type 1 Gaucher disease: a rare case
Sign Up to like & getrecommendations! Published in 2018 at "Child's Nervous System"
DOI: 10.1007/s00381-018-3946-z
Abstract: BackgroundGaucher disease is a rare hereditary glycolipid storage disease. One of the rare complications is neurodeficits due to vertebral involvement.Case presentationAn 18-year-old female patient presented to the outpatient clinic with cauda equina syndrome due to… read more here.
Keywords: equina syndrome; disease rare; disease; case ... See more keywords
Who seeks finds. Gaucher’s disease: a rare case of thrombocytopenia
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Hematology"
DOI: 10.1007/s12185-020-02824-x
Abstract: In July 2019, a 68-year-old man was admitted to our institution for isolated thrombocytopenia (platelet count, 73 × 109/L) without anemia or abnormalities in white blood cells. The patient also referred bone pain. Standard exams… read more here.
Keywords: disease rare; gaucher disease; gaucher cells; seeks finds ... See more keywords
Rosai dorfman disease: A rare presentation of primary ureteral involvement with concurrent sarcoidosis
Sign Up to like & getrecommendations! Published in 2020 at "Urology Case Reports"
DOI: 10.1016/j.eucr.2020.101251
Abstract: Rosai-Dorfman disease is a rare condition with poorly understood pathogenesis at this time. Although it often involves the lymph nodes, it can present nearly anywhere at extranodal sites. Patients are frequently asymptomatic, but surgical debulking… read more here.
Keywords: disease rare; dorfman disease; rosai dorfman; presentation ... See more keywords
Gestational trophoblastic disease- rare, sometimes dramatic, and what we know so far.
Sign Up to like & getrecommendations! Published in 2022 at "Seminars in diagnostic pathology"
DOI: 10.1053/j.semdp.2022.03.002
Abstract: Gestational trophoblastic disease (GTD) is a heterogeneous group of lesions that are characterized by the abnormal proliferation of the trophoblast. Morphology, behavior and clinical significance vary tremendously and range from benign, non-neoplastic lesions that cause… read more here.
Keywords: trophoblastic disease; gestational trophoblastic; disease rare; rare sometimes ... See more keywords
Whipple's disease - a rare and challenging complication in a patient with Crohn's disease.
Sign Up to like & getrecommendations! Published in 2022 at "Zeitschrift fur Gastroenterologie"
DOI: 10.1055/a-1747-3666
Abstract: INTRODUCTION Whipple's disease (WD) is a rare and infectious condition leading to multi-organ impairment caused by Tropheryma whipplei (TW), a ubiquitously occurring bacterium. TW can be detected in tissues by histological detection of PAS ("periodic… read more here.
Keywords: whipple disease; disease; disease rare; crohn disease ... See more keywords
E029 Erdheim-Chester disease: a rare multisystem disorder
Sign Up to like & getrecommendations! Published in 2023 at "Rheumatology"
DOI: 10.1093/rheumatology/kead104.278
Abstract: Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis with multiorgan involvement. Otherwise known as polyostotic sclerosing histiocytosis it is characterised by proliferation and infiltration of lipid laden macrophages into bone marrow. Extraskeletal involvement is commonly… read more here.
Keywords: rheumatology; erdheim chester; disease; disease rare ... See more keywords
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
Sign Up to like & getrecommendations! Published in 2022 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1010129
Abstract: Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is the most prevalent Mendelian eye disorder, although its underlying clinical heterogeneity,… read more here.
Keywords: rare common; disease; disease rare; abca4 disease ... See more keywords
Dercum's disease: a rare and underdiagnosed disease*
Sign Up to like & getrecommendations! Published in 2019 at "Anais Brasileiros de Dermatologia"
DOI: 10.1590/abd1806-4841.20198231
Abstract: Approval of the final version of the manuscript; Elaboration and writing of the manuscript; Critical review of the manuscript FIgure 2: A Skin showing acanthosis, parakeratosis and inflammatory infiltrate in superficial and deep dermis (Hematoxylin… read more here.
Keywords: dercum disease; disease rare; rare underdiagnosed; disease ... See more keywords
Cutaneous vasculitis in HIV-associated Castleman’s disease: a rare manifestation
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Dermatology"
DOI: 10.1684/ejd.2019.3520
Abstract: Disclosure. Acknowledgements: The authors are indebted to Dr. Gerhard Strittmatter (Münster, Germany) for providing the questionnaire and material for the analysis of our results, as well as valuable suggestions during the preparation of this manuscript.… read more here.
Keywords: cutaneous vasculitis; disease rare; associated castleman; castleman disease ... See more keywords
Urbach--Wiethe Disease: A Rare Cause of Bilateral Mesial Temporal Lobe Involvement and Cerebral Hemorrhage
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_832_21
Abstract: Annals of Indian Academy of Neurology ¦ Volume 25 ¦ Issue 3 ¦ May-June 2022 526 8. Jing C, Wang Z, Chu C, Dong M, Lin W. Miller‐Fisher syndrome complicated by Bickerstaff brainstem encephalitis: A… read more here.
Keywords: rare cause; neurology; disease rare; cause bilateral ... See more keywords