SAGE Open Medical Case Reports最新文献

Oropharyngeal squamous cell carcinoma is a distinct subtype of head and neck cancer that has become increasingly linked to human papillomavirus over the last four decades. Described is the case of two brothers diagnosed with human papillomavirus-positive oropharyngeal squamous cell carcinoma 6 years apart. The first brother, R.M., presented with an 8-month history of tonsillar swelling, found to be stage III human papillomavirus-positive oropharyngeal squamous cell carcinoma. Despite delayed treatment with chemoradiation, he developed metastatic disease and succumbed to his illness. The second brother, K.M., presented only 3 weeks after the development of neck swelling given his family history, which was also diagnosed as stage III human papillomavirus-positive oropharyngeal squamous cell carcinoma. Following prompt chemoradiation and neck dissection, K.M. has remained in remission for 9 years. Literature has yet to characterize this degree of familial clustering among human papillomavirus-positive oropharyngeal squamous cell carcinomas. Hence, this introduces the possibility of a genetic predisposition to human papillomavirus's oncogenesis in the oropharynx. This case emphasizes the importance for clinicians to stay vigilant of the family history of human papillomavirus, as well as poses significant implications for future research investigating the interaction of genetic aberrations on human papillomavirus's oncogenic process.

A 65-year-old Caucasian male was referred to an endodontic specialist practice in a private clinic in December 2019 for the management of an asymptomatic, radiolucent lesion located at the cervical level of the distal root of his right lower first molar, noticed during a routine periapical radiograph. After an accurate evaluation with cone-beam computed tomography (CBCT), the subgingival lesion was diagnosed as a supracrestal external cervical resorption (ECR), with a circumferential spread ⩽90°, confined to dentine without pulp involvement. The lesion was treated with the following sequence: (1) a full flap accessed the ECR, (2) the granulomatous tissue was removed from the root area, (3) the cavity was refreshed and filled with a well-refined and polished resin composite, (4) the flap was sutured at the cemento-enamel junction. A mandibular CBCT scan was performed before treatment, right after treatment, and 3 years postoperatively. Compared to the 3-year posttreatment CBCT scan, the immediate posttreatment one, revealed the absence of bone loss and an unexpected coronal bone remodeling with new bone formation over the treated lesion.

Superior mesenteric artery syndrome is an acquired vascular compression disorder resulting from the compression of the third portion of the duodenum, which is the first part of the small intestine, leading to a reduction in the space between the aorta and the superior mesenteric artery. Although rare, superior mesenteric artery syndrome-induced pancreatitis has been documented in the literature. This article presents the case of a 20-year-old female patient with a history of colectomy for acute severe colitis, resulting in significant weight loss. She was admitted to the hospital with symptoms of upper bowel obstruction, and the diagnosis of superior mesenteric artery syndrome complicated by acute pancreatitis was made. The patient underwent a nutritional assistance program along with intravenous fluid therapy, resulting in positive outcomes. Superior mesenteric artery syndrome -induced pancreatitis is rarely reported and can be attributed to an occlusive post-papillary syndrome, which causes retrograde reflux of bile into the pancreatic duct, activating inflammation responsible for pancreatitis.

Goldenhar syndrome is a multifactorial congenital anomaly that involves structures that develop from the first and second pharyngeal arches. In this report, we present a clinical case of a 3-month-old male infant diagnosed with Goldenhar syndrome, born to a known retro-viral infected mother who was receiving antiretroviral therapy. The baby was brought to the hospital with complaints related to upper respiratory system. On examination, he had typical signs and symptoms of Goldenhar syndrome: an asymmetrical face with small left facial bones, a low-set ear, left anophthalmia, an atretic left ear with only small ear appendages, and a complete cleft lip and palate. His family had no history of birth defects or exposure to the known causes of birth defects. The baby was treated for severe community-acquired pneumonia, the diagnosis for his current presentation to our hospital, and he is now on multidisciplinary follow-up for possible medical and surgical management of the Goldenhar syndrome.

Nitrous oxide, also called nitrous monoxide, or nitrous oxide, is a colorless and odorless gas, without toxicological effect, but it can be asphyxiating at high concentration, its misuse is increasing especially among young people. Chronic use of N₂O may cause psychiatric complications, including depression, hypomania, and paranoid psychosis with visual and auditory hallucinations. We present a case of nitrous oxide abuse "laughing gas" in 25 years old woman with bizarre behavior delusions and hallucinations with a normal neurological examination. The patient had low levels of vitamin B12 (135 pmol/L). Treatment with antipsychotics and vitamin B12 (cobalamin) resolved her psychosis. In addition to the hematological and neurological effects, rare cases of acute psychosis, especially in young people with or without psychiatric history, use varies from 1 month to years. Clinicians are increasingly in need of knowledge regarding the misuse of nitrous oxide.

Posterior fossa dermoid cysts are uncommon benign congenital abnormalities. Meningitis is seen as a primary symptom in these situations, more rarely we can find cerebral abscesses. In this case, we describe a 4-year-old Syrian boy who presented with headaches and frequent vomiting as his major complaints. No indication of cerebellar injury was present. He had signs of hydrocephalus like grade III bilateral papilledema but did not develop meningitis. The patient was diagnosed with a complete dermal sinus of the posterior cranial fossa in combination with an infected intradural dermoid cyst and a secondary abscess formation. In Conclusion, the preoperative diagnosis of infected dermoid cysts and dermal sinus tracts lacking signs of infection or meningitis poses challenges, particularly when accompanied by hydrocephalus that can resemble cerebellar tumors. Thorough preoperative assessment is vital for these complex cases.

Situs inversus, an uncommon disorder, causes the orientation of asymmetric organs to be opposite to that of normal anatomy. It can be either partial, affecting only the thoracic or abdominal cavities, or full, involving the transposition of both the thoracic and abdominal organs. A 31-year-old Ethiopian male patient presented with migratory abdominal pain in the left lower quadrant for 3 days. Associated with the pain, he experienced symptoms of nausea, vomiting of ingested matter, and loss of appetite. Investigations were consistent with left-sided appendicitis with situs inversus totalis. Therefore, the patient was operated on and discharged with no perioperative complications. Appendicitis is a rare cause of left lower quadrant pain. In order to reduce the delay in patient treatment and avoidable perioperative complications, emergency physicians, radiologists, and surgeons must become more knowledgeable about situs inversus and left side appendicitis.

Pure large-cell neuroendocrine carcinomas of the ovary are extremely rare, so there is a lack of molecular information on this type of cancer. Herein, we presented a pure primary large-cell neuroendocrine carcinomas of the ovary in a 72-year-old female with a pathogenic somatic mutation at the c.5332+1g>a splice site of the BRCA1 gene and with no TP53 mutation. She was uneventful 32 months after the operation and chemotherapies. To the best of our knowledge, this is the first report of a BRCA1 somatic mutation in the ovary large-cell neuroendocrine carcinomas. Testing BRCA1/2 mutations in patients with large ovarian cell neuroendocrine carcinomas might provide an opportunity for their future target treatments. It would expand our understanding.

Type I plasminogen (PLG I) deficiency is a genetic disorder inherited in an autosomal recessive mode and carries high mortality and morbidity. This case report discusses two babies, aged 2 and 3 months, who were diagnosed with ligneous conjunctivitis and congenital hydrocephalus. They had progressive macrocephaly, which led to the insertion of a ventriculoperitoneal shunt. However, there was no significant improvement. During the course of the disease, they underwent genetic testing and were diagnosed with PLG I deficiency. One of the babies underwent ventriculocholecystic shunt insertion as part of palliative care and management, since this disease has poor absorption in the peritoneal cavity. Unfortunately, there was no improvement observed, and he died at 18 months. The other baby received intravenous plasma (10 ml/kg) three times a week, plus using several eye drops daily, with moderate improvement. Promising results are expected with the approved plasminogen, human-tvmh, by the Food and Drug Administration. However, access to the newly approved drug in developing countries is challenging, often hindered by cost or supply issues, necessitating the use of alternative treatments.

Uterine inversion is characterized by the folding of the fundus into the uterine cavity. While infrequent, it ranks among the most serious complications of childbirth, posing a significant risk of mortality primarily due to hemorrhage and shock. Retained placenta after vaginal delivery is diagnosed when placenta does not spontaneously deliver within 18-60 min. Manual placenta can be considered first if retained placenta occurs. A 29-year-old woman with parity status P2A0 came to maternal emergency referred from the first health care provider with severe post-partum hemorrhage after delivering her second living 3100 g baby 2 h before admission. The midwife reported that the placenta was hard to have. There was a resistance felt inside when she tried to do umbilical cord traction. The manual placenta was not done. After several trials, the placenta finally came out, followed by fundus of uterine. Acute hemorrhage occurred, causing a decrease of hemoglobin level to 7.8 g/dl. At maternal emergency, the placenta delivered spontaneously yet the fundus still inverted. Fast reposition of uterine done by doctor on duty to stop the hemorrhage. Following successful repositioning and 4 days of observation, the patient was discharged from the hospital with no signs of hemorrhage and favorable results on abdominal ultrasonography.