Archive of clinical cases最新文献

Muir-Torre Syndrome (MTS) is associated with multiple visceral malignancies. Initial presentation may be a benign skin tumor mimicking a sebaceous cyst. This case report highlights the importance of early diagnosis, genetic testing, and multidisciplinary screening. A 67-year-old man was diagnosed with MTS following excision of a skin lesion (sebaceoma). He was declined both screening colonoscopy and genetic testing. Subsequently, advanced colon cancer was found following presentation with iron deficiency anemia, which ultimately led to palliation despite successful surgery. MTS can present insidiously with skin lesions clinically diagnosed as sebaceous cysts. Once MTS is suspected on histology, genetic testing and screening for MTS-related cancers is warranted. Better understanding of the genetic variants for MTS can aid in earlier diagnosis thus not dismissing the need for screening for MTS-related cancers.

Burning mouth syndrome is a chronic painful condition characterized by a subjective intraoral pain and burning sensations in the absence of an identifiable medical, dental, or psychiatric cause. Although the underlying etiology is currently unclear, an idiopathic (or primary) form and a secondary form to other conditions are formally recognized. However, as several authors have suggested, it might be of clinical utility to consider the existence of a third clinical entity, namely Drug-Induced Burning mouth syndrome, for its therapeutic implications. The latter has been reported with angiotensin-converting enzyme inhibitors, angiotensin receptor blockers, antiretrovirals, anticoagulants, chemotherapy, and drugs commonly used in the treatment of neuropsychiatric disorders such as antidepressants, benzodiazepines, and antipsychotics. Regarding anticonvulsants a literature search found a previous case of Topiramate-Induced Burning mouth syndrome but no previous report of valproate-induced Burning mouth syndrome. Our case is, to date, the first case in the literature of Burning mouth syndrome onset following the administration of valproate to a patient suffering from fibromyalgia and bipolar spectrum disorder. Symptoms resolved completely when the drug was stopped, and the association between symptoms and drug was replicated after drug re-administration.

The etiology of polycystic ovary syndrome (PCOS) is not exactly known, but there are indications that genetic factors, exposure to androgen in early childhood, and obesity lead to a disruption of the hypothalamic-pituitary-ovarian axis and dysregulation of microRNAs. Chromosomal aberrations have rarely been described as a cause of PCOS. We present the case of a 20-year-old female diagnosed with PCOS at age 17 due to hyperandrogenism, obesity, polycystic ovaries, amenorrhoea, and emerging insulin resistance. A work-up for the cause of PCOS revealed a previously undescribed translocation 46XX t(2;9)(q21;p24). Alternative causes of PCOS were excluded. In addition, the patient had post-COVID syndrome. The patient was treated with contraceptive pills. PCOS can be caused by the translocation 46XX t(2;9)(q21;p24). The clinical manifestations of PCOS can be exacerbated by post-COVID syndrome.

Chiari I malformation is a congenital anatomic anomaly of the cerebellar tonsils resulting in their downward displacement through the foramen magnum. While often incidentally discovered on imaging with no attributable symptoms, the most common symptomatic presentation is non-specific headache. Herein, we describe a case of symptomatic Chiari I malformation in a woman with psychiatric comorbidities manifesting as a sensation of brain catching. While a peculiar description easily misconstrued by her mental health history, clinicians should consider this diagnosis in those describing symptoms compatible with headaches or occiput pain related to meningeal irritation.

Hypertriglyceridemia associated acute pancreatitis is a medical emergency and it causes significant morbidity and mortality. Here we report a case of 47 years old male with hypertriglyceridemia associated acute pancreatitis. The diagnosis was confirmed by elevated serum triglyceride levels and elevated lipase levels. Initially, Insulin infusion started with fibrates and statins but due to worsening hypertriglyceridemia and he underwent one session of plasmapheresis, following which triglyceride levels improved. Triglyceride assessment in removed plasma in plasmapheresis showed that the amount of triglyceride level reduction was 4 times the amount removed in plasmapheresis. The study showed that plasmapheresis improves insulin-related triglyceride metabolism besides removal.

Euglycemic diabetic ketoacidosis (euDKA) is a rare but deadly complication of sodium-glucose cotransport-2 (SGLT-2) inhibitors. Primarily indicated for the treatment of Type 2 Diabetes Mellitus, the incidence of euDKA is expected to rise as SGLT-2 inhibitors become a mainstay therapy for diabetics with heart failure. Diagnosis of euDKA can be difficult given the presence of normoglycemia and is especially challenging among geriatric patients that are complicated by additional comorbidities. We present a case of an elderly male with multiple comorbidities who presented for dehydration and altered mentation from a nursing home facility. Laboratory investigations showed signs of acute renal failure, uremia, electrolyte abnormalities, and severe metabolic acidosis due to high levels of plasma beta-hydroxybutyrate. He was admitted to the medical intensive care unit (ICU) for further management. A presumptive diagnosis of euDKA was strongly suspected due to his laboratory data and medication reconciliation which revealed the recent initiation of empagliflozin. The patient was promptly started on a standardized treatment protocol for DKA with continuous infusion of regular insulin with strict glucose monitoring, along with intravenous fluids, and a small dose of sodium bicarbonate infusion as per current standard guidelines. With the rapid improvement in symptoms and metabolic derangements, the diagnosis was confirmed. Geriatric patients from nursing home facilities are a high-risk cohort who if not properly cared for by nursing staff can develop dehydration, malnutrition and worsening frailty including sarcopenia that exposes them to increased risk of medication side effects, such as euDKA. Clinicians should consider euDKA in their differential diagnosis in elderly patients with overt or relative insulinopenia who are receiving SGLT-2 inhibitors when presenting with acute changes in health and mentation.

Renal cell carcinoma (RCC) frequently spreads to distant organs like the lung, lymph nodes, bone, and liver. However, there have been some reports of RCC bladder metastasis. We present a case of a 61-year-old man presented with total painless gross hematuria. The patient had a history of right radical nephrectomy for papillary (type 2) RCC, high-grade, pT3a with negative surgical margins. There was no evidence of metastases on 6-month surveillance CT. After one-year post-operation, at this current admission, the cystoscopy discovered a solid bladder mass away from the trigone in the right lateral bladder wall. The resected bladder mass was metastatic papillary RCC with PAX-8 positive but GATA-3 negative on immunostaining. A positron emission tomography scan confirmed multiple lung, liver, and osseous metastases. This case report can highlight the importance of having bladder metastasis in RCC mind, although rare, and may necessitate the surveillance measures like urine analysis at more frequent interval and CT Urography instead of regular CT to detect the RCC metastatic bladder cancer at early stage.

Diffuse alveolar hemorrhage (DAH) is a potentially life-threatening pulmonary pathology which results in intra-alveolar hemorrhage secondary to disruption of the alveolar capillary basement membrane. Most commonly, these patients present with hemoptysis, hypoxemia and pulmonary infiltrates. Although rare, sevoflurane, an inhalational anesthetic used as a rapid induction agent for anesthesia may be implicated in the etiology of DAH. We report a case of a 21-year-old otherwise healthy male found to have postoperative diffuse alveolar hemorrhage secondary to sevoflurane inhalation. Thus far, only five documented cases describing sevoflurane induced diffuse alveolar hemorrhage have been described in the literature, with prior cases also showing a clear temporal association between sevoflurane administration and symptom onset. Although uncommon, we must take sevoflurane into consideration as a possible etiology of diffuse alveolar hemorrhage when encountering signs of respiratory distress and hemoptysis in postoperative patients.

Patients diagnosed with COVID-19 infection undergoing surgical procedures have been reported to have increased post-operative complications and mortality. These findings are important when considering cardiac surgical procedures, specifically coronary artery bypass grafting (CABG) during this pandemic, since the Society of Thoracic Surgeons (STS) describes most of these operations as 'urgent'. In addition, the majority of cardiac surgical patients are at increased risk of infection and death with COVID-19, as they are frequently of old age, obese, hypertensive, and diabetic, with severe cardiac or pulmonary diseases. This case series describes the clinical course following a CABG procedure in two patients that went on to develop COVID-19 infection post-operatively. We aim to illustrate the similarities in clinical presentation, but differences in eventual outcomes for both patients and hypothesize the reasons for the differences.

Teratomas are defined by the presence of cell types from different germ layers, they typically involve the gonads or the sacrococcygeal region and are rarely retroperitoneal. Prenatally detected adrenal teratomas are extremely uncommon. Aim of this paper is to share our experience with an adrenal antenatal mass initially diagnosed as a left adrenal neuroblastoma that turned out to be a mature teratoma after microscopical examination. We present the case of a male fetus with antenatal diagnosis of a left adrenal cystic image at the 22nd week of amenorrhea. The fetal magnetic resonance imaging showed a non-calcified cystic mass of the left adrenal gland, compatible with a neuroblastoma. At birth an ultrasound confirmed the presence of an anechogenic lesion of the left adrenal gland. The infant was closely monitored during his first year and in the absence of significant regression of the adrenal mass, it was decided to perform a laparoscopic left adrenalectomy. Unexpectedly, the final pathological diagnosis was mature cystic adrenal teratoma. In conclusion, an adrenal mass diagnosed antenatally is generally a hemorrhage or a neuroblastoma. Adrenal teratomas are very rare and those diagnosed antenatally even more. At present, we have no clinical, biological, or radiological evidence to suspect them before surgical removal. There are only two other cases of unexpected adrenal teratoma in infants described in Literature.