SM Case Reports

Archive Articles

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A Case of Koolen de Vries Syndrome or 17q21.31 Microdeletion Syndrome Associated with Infertility: A Case Report.

The chromosome 17q21.31 microdeletion syndrome (Koolen de vries Syndrome) is a genomic disorder in patients with unexplained mental retardation that has originally been identified using high resolution genome analyses such as array CGH. Here we report the clinical characterization of a man with the 17q21.31 microdeletion syndrome and infertility. Clinical examination reveals that mild developmental delay, poor speech development, stutter, facial dysmorphisms including a long face, high narrow palate, a tubular or pear-shaped nose and a bulbousnasal tip, a friendly behaviour and the main characteristic features to refer was infertility. Other clinically important features include hypothyroidism, bilateral asymmetry in brain MRI, without any anomalies in urogenital examination and echocardiography. Using array CGH we found pathologic loss of 921 kb on 17q21.31compatible with Koolen de Vries syndrome. The chromosome 17q21.31 microdeletion syndrome or Koolen de Vries syndrome recognizable as a genomic disorder with broad features and infertility may be occur.

Hojatolah Rezaei¹, Neda Asgharzadeh², and Azra Moradbeigi³


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An Unexpected Case of Ulceroglandular Tularemia in a Pediatric Patient on Long Island

Tularemia is a zoonotic infection caused by the bacteria Francisella Tularensis. It is a small, fastidious, non-spore- forming aerobic gram negative coccobacillus which in addition to humans affects more than a 100 animal species particularly ground squirrels, rabbits, hares, voles and muskrat.

Aderonke Adefisayo* and Christy Beneri DO


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Carcinosarcoma of the Breast in a Pregnant Patient: A Case Report and Review of Literature

Breast carcinosarcoma is a rare tumor of the breast consisting of 0.08 to 0.2% of all cases of breast cancer [1]. The incidence of this type of tumor is very low and in this case the patient presented with the malignancy in her 3rd trimester of pregnancy. Due to her presentation while pregnant the case becomes even more rare.

Daniel Fegely¹* and Adriana Suarez-Ligon²


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Appendiceal Mass - Determining Resection with Frozen Section: A Case Report and Review of Literature

Guidelines for the type of resection to be done for an appendiceal mass are usually determined by the size and location of the mass in the appendix. This is because most masses of the appendix are found intraoperatively or after pathological examination. In this case an appendiceal mass was seen on CT scan and intra-operative frozen section of the appendix was utilized to determine the type of resection that was required. The patient was found to have adenocarcinoma of the appendix on frozen section and a right hemicolectomy was then done during the same case. This case is also worth discussion as primary adenocarcinoma of the appendix is a rare tumor representing 0.03% of all appendiceal pathology.

Daniel Fegely* and Rodolfo Colaco


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Ultrasound Appearance of Acute Hepatitis A: A Case Report in the Wake of a Recent Outbreak in Utah Causing 2 Deaths

Outbreaks of acute hepatitis A in the developing world are infrequent. When an outbreak occurs, it is common to affect people living in areas with unsanitary living conditions. The symptoms of acute hepatitis A infection are nonspecific, including fever, malaise, nausea, and abdominal pain. There was a pervasive hepatitis A outbreak documented in Salt Lake and Utah counties in the spring of 2018. This epidemic resulted in 2 deaths. This case report is a rare example of the ultrasound appearance of acute hepatitis A demonstrating marked gall bladder wall thickening, followed by a discussion of its clinical course, proposed physiologic mechanisms, and a review of its classic ultrasound imaging features.

Adam Binneboese* and Ahmed Salem