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http://dx.doi.org/10.1007/s00104-018-0601-x | DOI Listing |
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFOxf Med Case Reports
January 2025
Department of Biochemistry, Samyak Diagnostic Pvt Ltd, Yala Sadak, Kathmandu 44600, Nepal.
Testicular leiomyoma is an exceptionally rare finding in patients with androgen insensitivity syndrome (AIS). Here, we present a report of a 30-year-old individual diagnosed with complete AIS who presented with an inguinal mass subsequently identified as a right sided testicular leiomyoma. While leiomyoma are generally considered benign, controversies persist regarding the potential for malignancy in inguinal masses among AIS patients.
View Article and Find Full Text PDFFront Oncol
January 2025
Department of 2ndBrain Center and Stroke Center, The Affiliated Panyu Central Hospital, Guangzhou Medical University, Guangzhou, China.
Primary central nervous system lymphomas (PCNSL) are rare, constituting 2 - 3% of intracranial malignancies. A 49-year-old male presented with a 20-day history of dizziness and a 15-day history of right-sided weakness. Physical examination revealed various abnormal signs.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Kabir Medical College, Peshawar, Pakistan.
Background: Malignant mesotheliomas are aggressive forms of tumors arising from mesothelial cells. The most common type is malignant pleural mesothelioma, which progresses rapidly and leads to pleural effusion. It typically affects older men and is strongly associated with asbestos exposure.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
January 2025
Osh State University, Osh, Kyrgyzstan.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL) is a rare inherited disorder in which thickening of the walls of small and medium-sized blood vessels blocks blood flow to the brain. Diagnosis of CADASIL is based on clinical presentation, neuroimaging findings, and genetic predisposition. This disease is uncommon in children; typically, symptoms manifest in individuals between the ages of 20 and 40, though some may exhibit symptoms later in life.
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