Shah, Jamil MD1; Lingiah, Vivek MD2; Niazi, Mumtaz MD2; Olivo-Salcedo, Raquel MD2; Pyrsopoulos, Nikolaos MD, PhD, MBA, FACP, AGAF, FAASLD, FRCP2; Galan, Mark MD, MS3; Shahidullah, Abul MD4
doi : 10.14309/crj.0000000000000668
October 2021 - Volume 8 - Issue 10 - p e00668
In the United States, the incidence of new cases of syphilis has been rising. The number of cases of primary and secondary syphilis has continued to increase almost every year over the past 2 decades. Secondary syphilis has a variety of clinical manifestations. A frequently overlooked presentation is that of syphilitic hepatitis, which should be part of the differential diagnosis for patients with elevated liver enzymes, a maculopapular rash, and/or risk factors for contracting syphilis. In this study, we report a rare and unusual case of a man with a remote history of syphilis infection who developed acute liver injury.
Becker, Erica MD, MPH1; Mohammed, Turab MD1; Wysocki, John MD2
doi : 10.14309/crj.0000000000000675
October 2021 - Volume 8 - Issue 10 - p e00675
Median arcuate ligament syndrome occurs when the celiac artery and/or the celiac plexus nerves is compressed by the median arcuate ligament during expiration causing a variety of gastrointestinal symptoms. Here, we present a case of median arcuate ligament syndrome in a persistently symptomatic 35-year-old man that presented as a mimicker of Crohn's disease. Symptomatology, computed tomography angiography, and abdominal ultrasound Doppler were consistent with celiac artery compression syndrome. After surgical decompression of the ligament and removal of the celiac ganglion, he reported a definitive relief of abdominal pain and resolution of symptoms.
Butler Tjaden, Naomi E. MD, PhD1,2,3; Chiou, Eric H. MD2,4; Pillai, Nishitha R. MBBS, FACMG2,5,6; Schady, Deborah A. MD7; Chumpitazi, Bruno P. MD, MPH2,4,8
doi : 10.14309/crj.0000000000000676
October 2021 - Volume 8 - Issue 10 - p e00676
We present 2 siblings with a novel type 1 inositol 1,4,5-triphosphate receptor (ITPR1) missense variant who exhibit gastrointestinal dysmotility (chronic constipation and gastroparesis). ITPR1 is expressed in the cerebellum and interstitial cells of Cajal. Periodic release of calcium by ITPR1 initiates pacemaker currents, resulting in smooth muscle contraction. ITPR1 mutations are known to be associated with neurologic syndromes, and these variants have not previously been associated with significant gastrointestinal manifestations in humans. Using whole-genome sequencing, in silico prediction software, biopsy samples, and manometry, the identified novel ITPR1 variant is likely pathogenic and may have neurogastroenterology implications.
Talari, Mridula P. MBBS1; Yarra, Pradeep MD, MPH1; Grigorian, Alla Y. MD1
doi : 10.14309/crj.0000000000000671
October 2021 - Volume 8 - Issue 10 - p e00671
Ponz de Leon Pisani, Ruggero MD1; Vanella, Giuseppe MD1; Petrone, Maria Chiara MD1
doi : 10.14309/crj.0000000000000673
October 2021 - Volume 8 - Issue 10 - p e00673
Rim, Daniel MD1; Yu, Qi MD2; Cieslak, John MD3; Wang, Weizheng MD2
doi : 10.14309/crj.0000000000000695
October 2021 - Volume 8 - Issue 10 - p e00695
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