Two infant siblings (male and female) manifested extreme hypotonia and flaccidity at birth and had a rapidly fatal course. In each, rod-like structures were demonstrated within a variety of skeletal muscles, and accumulations of thin filaments were seen in numerous muscle fibers. The possibility exists that this represents a severe and rapidly fatal form of nemaline myopathy that should be included in the differential diagnosis of infantile hypotonias.
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Acta Dermatovenerol Croat
November 2024
Prof. Miloš Nikolić, MD, PhD, University of Belgrade, School of Medicine,, Belgrade, Serbia;
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a very rare and aggressive hematologic malignancy, arising from plasmacytoid dendritic cells (pDCs). BPDCN frequently has, at least initially, exclusively cutaneous presentation. We present a 45-year-old woman with a 3-month history of rapidly evolving violaceous patches, infiltrated plaques, and bruise-like tumefactions, disseminated on her face and upper trunk.
View Article and Find Full Text PDFDiagnostics (Basel)
January 2025
Research Center on Thromboembolic Diseases and Antithrombotic Treatment, Department of Medicine and Surgery, University of Insubria, 21100 Varese, Italy.
Deep venous thrombosis (DVT) is a pathological condition that develops when a thrombus forms within the deep venous system. Typically, it involves the lower limbs and, less frequently, the upper extremities or other unusual districts such as cerebral or splanchnic veins. While leg DVT itself is rarely fatal and occasionally can lead to limb-threatening implications, its most fearsome complication, namely pulmonary embolism, is potentially fatal and significantly contributes to increased healthcare costs and impaired quality of life in affected patients and caregivers.
View Article and Find Full Text PDFAm J Case Rep
January 2025
Department of Anatomical Pathology, Jenderal Soedirman University, Purwokerto, Central Java, Indonesia.
BACKGROUND Vulvar melanoma during pregnancy is exceptionally rare. Hormonal and immunological changes in pregnancy have raised concerns about the potential for accelerated melanoma progression and poorer maternal outcomes. This case report describes an unusual presentation of vulvar melanoma in a pregnant patient, which rapidly progressed despite previous treatments, but resulted in a favorable fetal outcome.
View Article and Find Full Text PDFJAMA Neurol
December 2024
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Importance: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, rapidly progressive and fatal neurodegenerative disease. Definite sCJD diagnosis can only be made post mortem, and little is known about the prodromal phase of the disease.
Objective: To compare drug prescription patterns before the clinical onset of sCJD between patients and matched controls for exploration of potential risk factors and to assess correlations between drug exposure and sCJD survival.
Rinsho Ketsueki
January 2025
Department of Hematology and Oncology, Tokai University School of Medicine.
A 54-year-old woman underwent cord blood transplantation in second remission of acute myeloid leukemia. She tested positive for anti-toxoplasma IgG antibody before transplantation. After neutrophil engraftment, she complained of foggy vision, but brain MRI showed no abnormality.
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