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Superior mesenteric artery (SMA) syndrome or Wilkie's syndrome is a vascular compression disorder that causes the abnormal compression of the third portion of the duodenum by the SMA. It has a low incidence rate, which is higher in young women, and is rarely associated with the Nutcracker phenomenon: a condition of the compression of the left renal vein between the SMA and the aorta, which manifests as pain in the left flank and pelvis. Here, we report on the case of a 54-year-old woman with a history of repeated episodes of abdominal pain caused by the Nutcracker syndrome and Wilkie's syndrome.
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http://dx.doi.org/10.3390/diagnostics14171844 | DOI Listing |
Cureus
September 2025
General Surgery, Tufts University School of Medicine, Boston, USA.
Superior mesenteric artery (SMA) syndrome is a rare condition characterized by the narrowing of the space between the SMA and the aorta, resulting in the compression of the third portion of the duodenum. This syndrome has many names, including cast syndrome, arterio-mesenteric duodenal compression syndrome, and Wilkie syndrome. This is attributed to the loss of the intervening mesenteric fat pad, posing diagnostic and therapeutic challenges due to its nonspecific presentation.
View Article and Find Full Text PDFAm J Med Genet A
September 2025
MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Am J Med Genet A
August 2025
Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous 'mitten' syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p.(Ser252Trp) (S252W) or p.
View Article and Find Full Text PDFPLoS Genet
August 2025
Department of Chemistry, Faculty of Science, Hong Kong Baptist University, Kowloon, Hong Kong.
The primary cilium is a signal transduction organelle whose dysfunction clinically causes ciliopathies in humans. RAB23 is a small GTPase known to regulate the Hedgehog signalling pathway and ciliary trafficking. Mutations of RAB23 in humans lead to Carpenter syndrome (CS), an autosomal recessive disorder clinically characterized by craniosynostosis, polysyndactyly, skeletal defects, obesity, and intellectual disability.
View Article and Find Full Text PDFVasc Dis (Paris)
April 2025
Vascular Surgery Department, CHUJRA, Antananarivo, Madagascar; Faculty of Medicine, University of Antananarivo, Antananarivo, Madagascar.
Two women, aged 39 and 54 years, had been experiencing episodes of lumbar and left flank pain for several years, with a gradual worsening of symptoms. In addition to the pain, they began to suffer from nausea, weight loss, and occasional fatigue. A CTA revealed dilatation of the left renal vein, which was compressed as it passed between the abdominal aorta and the superior mesenteric artery (SMA), confirming a diagnosis of nutcracker syndrome.
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