Gerstmann-Str?ussler-Scheinker disease: A case report

BACKGROUND Gerstmann-Str?ussler-Scheinker(GSS) disease is an inherited prion disease that is clinically characterized by the early onset of progressive cerebellar ataxia. The incidence of GSS is extremely low and it is particularly rare in China. Therefore,clinicians may easily confuse this disease with other diseases that also cause ataxia, resulting in its under-diagnosis or misdiagnosis.CASE SUMMARY Here, we report the first case of genetically diagnosed GSS disease in Northeast China. The patient exhibited typical ataxia and dysarthria 2.5 years after symptom onset. However, magnetic resonance imaging of the brain and spinal cord revealed a normal anatomy. Screening results for the spinocerebellar ataxia gene were also negative. We thus proposed to expand the scope of genetic screening to include over 200 mutations that can cause ataxia. A final diagnosis of GSS was presented and the patient was followed for more than 3.5 years, during which we noted imaging abnormalities. The patient gradually exhibited decorticate posturing and convulsions. We recommended administration of oral sodium valproate, which resolved the convulsions.CONCLUSION Patients with inherited ataxia should be considered for a diagnosis of GSS via genetic testing at an early disease stage.     

Dental guards: helpful or hazards?--a case report

Dental guards are an airway adjunct recommended for patients at risk for dental injury during airway instrumentation; however, reportedly only 2% of anesthesiologists use dental guards during intubation. In this case report, a 64-year-old patient was admitted for a right retromastoid craniectomy with microvascular decompression of the fifth cranial nerve. The patient had crowns on all her maxillary teeth. The anesthesia team, which consisted of a student anesthetist, Certified Registered Nurse Anesthetist, and anesthesiologist, planned to prevent dental damage through the use of a dental guard (Bay Medical, Clearwater, Fla). Prior to intubation a dental guard was inserted on the upper teeth. Induction, intubation, and surgery were uneventful, but in the recovery area the patient complained of a sore throat. After transfer to the intensive care unit, the patient continued to complain of secretions and sore throat and was noted to have hoarseness. When a Yankauer suction catheter was inserted, the dental guard was discovered in the patient's mouth. Apparently during the busy sequence of events following intubation, the dental guard was overlooked and was displaced into the posterior oropharynx. Recommendations for the proper use of dental guards are needed to avoid complications; however, there is a scarcity of information available in the conventional anesthesia literature regarding this intubation adjunct. We recommend careful documentation, clear communication with all team members, and attention to avoid displacement during subsequent airway manipulation.     

Therapeutic physical exercise in neural injury: friend or foe?

[Purpose] The intensity of therapeutic physical exercise is complex and sometimes controversial in patients with neural injuries. This review assessed whether therapeutic physical exercise is beneficial according to the intensity of the physical exercise. [Methods] The authors identified clinically or scientifically relevant articles from PubMed that met the inclusion criteria. [Results] Exercise training can improve body strength and lead to the physiological adaptation of skeletal muscles and the nervous system after neural injuries. Furthermore, neurophysiological and neuropathological studies show differences in the beneficial effects of forced therapeutic exercise in patients with severe or mild neural injuries. Forced exercise alters the distribution of muscle fiber types in patients with neural injuries. Based on several animal studies, forced exercise may promote functional recovery following cerebral ischemia via signaling molecules in ischemic brain regions. [Conclusions] This review describes several types of therapeutic forced exercise and the controversy regarding the therapeutic effects in experimental animals versus humans with neural injuries. This review also provides a therapeutic strategy for physical therapists that grades the intensity of forced exercise according to the level of neural injury.Key words: Neurological injury, Neuroprotective effect, Physical exercise     

A simple appendicitis? An anatomical pitfall: A case report

Rationale: We present a case of appendicitis with an uncommon course due to rare anatomical location of the appendix in the right retroperitoneal space below the diaphragm and above the liver.Patient's concern: A 32-year-old, previously healthy male with a history of congenital diaphragmatic hernia repair in childhood, presented with 3 days of mild, colicky, central abdominal pain associated with fever, nausea and vomiting. At presentation, pain was localized to the right lower quadrant. Diagnosis: Even though diagnosis of appendicitis was clear, we decided to confirm it with computer tomography (CT). CT revealed elevation of the right dome of the diaphragm and perforated appendix located above the liver. Intervention: Appendectomy was performed via right subcostal approach instead of usual incision in the right lower quadrant. Outcome: Patient recovered well and was discharged on the 5th day after operation. Lessons: Previous congenital diaphragmatic hermia repair may change the location of the appendix. The appendix at rare locations could lead to an uncommon course of appendicitis. On this very note, surgeons should have a high index of suspicion, and CT may help avoid inadvertent complications.     

Type Ⅰ congenital extrahepatic portosystemic shunt treated by orthotopic liver transplantation: A case report

BACKGROUND Congenital extrahepatic portosystemic shunt, also known as Abernethy deformation, is a rare malformation caused by dysplasia in the portal vein system. There are few reports of liver transplantation as a treatment for Abernethy deformation, and our report is the first case in China. This is the second reported case with congenital extrahepatic portosystemic shunt combined with focal nodular hyperplasia and hepatopulmonary treated with liver transplantation.CASE SUMMARY The patient was a 14-year-old girl, diagnosed preoperatively as type Ib Abernethy deformation, intrahepatic multiple space-occupying lesion, and hepatopulmonary syndrome. The patient recovered well after undergoing classic orthotopic liver transplantation. Liver function, pulmonary function, and portal vein computed tomography angiography imaging were reexamined 20 mo postoperatively, and no abnormality was observed.CONCLUSION Liver transplantation is an effective treatment for type I Abernethy deformation combined with focal nodular hyperplasia and hepatopulmonary syndrome.     

Mucosa-associated lymphoid tissue lymphoma simulating Crohn’s disease:A case report

BACKGROUND Differential diagnosis between extranodal marginal zone lymphoma of mucosaassociated lymphoid tissue and inflammatory bowel disease is mainly based on histopathologic evaluation of intestinal biopsies,although there is no single definitive diagnostic investigation and that circumstance can lead to misdiagnosis in particular cases.Herein we present a rare,ulcerative form of marginal zone lymphoma which mimics the Crohn’s disease(CD)of upper digestive tract.CASE SUMMARY A 50-year-old man was presented with recurrent episodes of malaise and melena also weight loss.Enteroscopy of the small bowel demonstrated an ulcer in the jejunum.Microscopically,biopsies showed lymphoplasmacytic infiltrate.Diagnosis of CD was made.Primary treatment consisted of prednisone and azathioprine and was followed by azathioprine 100 mg per day with good clinical response in the following 2 years until relapse.At this time the results of endoscopic biopsies derived from proximal wall of stomach revealed Helicobacter pylori-negative marginal zone lymphoma of the gastric fundus.Immunophenotyping confirmed atypical CD20-positive cell population.Based on these biopsies,marginal zone lymphoma of mucosa-associated lymphoid tissue was diagnosed.Unfortunately,the contact with the patient was lost until one year later he was hospitalized with nausea,vomiting and severe pain because of gastrointestinal perforation.Four months later after laparotomy,the patient was treated with a course of chemotherapy.Complete remission was observed following 6 cycles of treatment.CONCLUSION This case report highlights the clinical relevance of knowledge and awareness of marginal zone lymphoma simulating CD.     

Is the thrombus truly free‐floating? A case report

A free‐floating thrombus in the left atrium is very rare in mitral stenosis. Such a thrombus can lead to sudden circulatory arrest and syncope or can cause severe cerebral or peripheral thromboembolic events. Clinical diagnosis is difficult, but left atrial thrombus should be suspected if patients with mitral stenosis and atrial fibrillation have intermittent or changing murmurs, emboli, or syncope. We describe the case of a patient with mild mitral stenosis under warfarin therapy, and a left atrial pedunculated thrombus discovered during the investigation for syncope attacks. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound 42:252–255, 2014     

When is red urine not hematuria?: A case report

The definition of gross hematuria is "the presence of blood in the urine in sufficient quantity to be visible to the naked eye." Certainly red urine, especially after trauma, immediately sparks the concern for genitourinary trauma. However, we report the unique case of a 19-year-old male who presented with "gross hematuria" after a motorcycle accident that turned out not to be hematuria but rather urine discoloration caused by the liberal use of a topical sulfa ointment containing an azo dye obtained in Mexico. We discuss the differential diagnosis of pigmenturia due to drugs or food ingestion, which is sparsely reported in the literature, as well as the frequency of alternative treatments used by patients presenting to the Emergency Department and the impact that can have on their evaluation.