Treatable causes of parkinsonian syndromes are rare; Whipple's disease is one of them. A patient is described who presented with a parkinsonian syndrome and abnormal vertical gaze. Measurement of eye movements showed marked slowing of upward saccades, moderate slowing of downward saccades, a full range of voluntary vertical eye movements, curved trajectories of oblique saccades, and absence of square wave jerks. These features, atypical of progressive supranuclear palsy, suggested the diagnosis of Whipple's disease, which was subsequently confirmed by polymerase chain reaction analysis of intestinal biopsy material. Precise measurement of the dynamic properties of saccadic eye movements in parkinsonian patients may provide a means of identifying treatable disorders.
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http://dx.doi.org/10.1136/jnnp.66.4.532 | DOI Listing |
Achondroplasia, the most prevalent short-stature disorder, is caused by missense variants overactivating the fibroblast growth factor receptor 3 (FGFR3). As current surgical and pharmaceutical treatments only partially improve some disease features, we sought to explore a genetic approach. We show that an enhancer located 29 kb upstream of mouse Fgfr3 (-29E) is sufficient to confer a transgenic mouse reporter with a domain of expression in cartilage matching that of Fgfr3.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Department of Infectious Diseases and Tropical Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt.
Whipple's disease, caused by the gram-positive actinomycete , is a rare chronic systemic illness with significant diagnostic and therapeutic challenges, particularly when the CNS is involved. This case report details a 46-year-old man presenting with a constellation of symptoms including fatigue, hypersomnia, weight loss, bifrontal headaches, abdominal pain, treatment-unresponsive diarrhea, and skin hyperpigmentation. Neurological examination revealed oculomasticatory myorhythmia, and imaging studies showed nodular enhancement of the hypothalamus and basal ganglia, along with retroperitoneal lymphadenopathy.
View Article and Find Full Text PDFCase Rep Infect Dis
December 2024
WakeMed's Division of Infectious Diseases, WakeMed Health and Hospitals, 3000 New Bern Ave, Raleigh 27610, North Carolina, USA.
Whipple's disease is a rare bacterial infection that is often present for years prior to diagnosis. Symptoms are nonspecific in the early stages of presentation and are primarily gastrointestinal in nature. The disease may progress with more systemic symptoms including arthralgia, fever, lymphadenopathy, cardiovascular disease, and central nervous system involvement.
View Article and Find Full Text PDFHPB (Oxford)
December 2024
Department of GI Surgery & Liver Transplantation, All India Institute of Medical Sciences, New Delhi, India.
Objective: To compare pylorus resecting pancreaticoduodenectomy (PRPD) with classical pancreaticoduodenectomy (classical PD) in terms of short term outcomes.
Background: There is some evidence that Pylorus resecting PD (PRPD) is associated with lesser incidence of DGE when compared to pylorus preserving PD (PPPD). However, no study has previously compared PRPD with classical PD.
IDCases
December 2024
Department of Critical Care Medicine, Shandong Province Hospital Affiliated to Shandong First Medical University, Shandong First Medical University, Jinan, Shandong 250021, China.
() is extensively known as the etiological bacterium of Whipple's disease (WD). Here, we reported a case of community-acquired pneumonia caused by in a young pregnant woman without predisposing medical conditions. This case indicated that might be also transmitted via respiratory droplet.
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