Small bowel diverticular disease is usually asymptomatic, but complicated small bowel diverticular disease can present as an acute abdomen, manifesting as diverticulitis, perforation, abscess, obstruction or bleeding. Due to the rarity of the disease, very few studies have been conducted on complicated small bowel diverticular disease. Therefore, there are no clear guidelines on management. General peritonitis remains the best indication for surgical management due to its correlation with high mortality and prolonged hospital stay. Traditionally, perforated small bowel diverticular disease is managed with exploratory laparotomy, primary bowel resection and anastomosis regardless of acute presentation. However, more recent studies demonstrated a trend towards conservative or less invasive surgical management. Here, we report two perforated small bowel diverticulitis cases at our institution that underwent different management and had different outcomes.
Pearson syndrome (PS) is a mitochondrial disorder that presents in early infancy as a multisystemic disease affecting the bone marrow and pancreas. It may present with anemia, diarrhea, exocrine pancreatic dysfunction, and failure to thrive. Delay in diagnosis can lead to severe morbidity and mortality in infancy. We report the case of a 9-month-old presenting with failure to thrive, severe macrocytic anemia and pancytopenia initially thought to have gastroesophageal reflux and feeding intolerance. Severe macrocytic anemia and pancytopenia prompted an early bone marrow evaluation. Abnormal bone marrow findings including vacuolated marrow precursors and ringed sideroblasts along with persistent mild lactic acidosis led to a rapid and extensive genetics workup. Whole exome sequencing including mitochondrial genome sequencing detected a 2.3 kb heteroplasmic deletion in m.12113_14421 encompassing the MT-ND5 gene consistent with the diagnosis of Pearson Syndrome. This case report highlights the advances in molecular genetic testing to diagnose patients with complex medical histories along the spectrum of mitochondrial diseases and the importance of early diagnosis to start treatment.
Double PTEG (percutaneous trans-esophageal gastro-tubing) was useful in nutrition and decompression for a gastric cancer patient with pyloric stenosis: a case report
Background For gastric cancer patients with strong pyloric stenosis, decompression by nasogastric tube insertion for gastric distension and central venous nutrition management have been performed. However long-term indwelling of the nasogastric tube is accompanied by pain, and Central venous catheter placement is inferior to enteral nutrition from infection risk and nutritional viewpoint. Furthermore, these generally require management in hospitalization. Case presentation An 81-year-old male was referred to our hospital for gastric cancer accompanied by pyloric stenosis. Blood test resulted in low nutrition and anemia. CT showed thickening of the wall from the anterior gastric part to the pylorus and enlargement of 50mm in the regional lymph node, and gastric distention. We planned resection after preoperative chemotherapy. We performed double PTEG (Percutaneous Tran Esophageal Gastro-tubing) from cervical co-wound for decompression and nutrition management of the stomach. Total laparoscopic gastrectomy was performed on day 114 after insertion of the double PTEG. During which time he had been good nutrition and no gastric distention with stayed at home for 42 days. On the 10th postoperative day, he was clinically released from hospital without any complications. Conclusions We conducted a new management to reduce and nourish patients with gastric cancer who had a pyloric stenosis by double PTEG (percutaneous trans-esophageal gastro-tubing), and can perform curative surgery after preoperative chemotherapy including home management period.
Giant hydronephrosis is a rare urinary tract disorder characterized by a collection arising from the kidney. Because of its complications, surgery remains the main treatment. Here we report the case of an 82-year-old woman with multiple comorbidities and diagnosis of giant hydronephrosis. After multidisciplinary concertation between urologists and geriatricians, no specific treatment was initiated. This case report highlights a non-specifically presentation of this rare disorder, including no symptom. The presence of multiple comorbidities has changed the management commonly reported in the literature.
Background Prostate cancer is a common malignancy in men; however, sarcoma of the prostate is an uncommon variant. Sarcoma of the prostate occurs in all age groups with rhabdomyosarcoma being more common in children while leiomyosarcoma occurs more in the older adults. Stromal tumour of uncertain malignant potential (STUMP) occurs in adults. Modalities of treatment include surgery, radiotherapy and chemotherapy used singly or in combination, but all report poor long term survival despite treatment selected. We present 2 cases of prostate stromal tumours. Case report We present two patients in their fourth decade who presented with acute urinary retention. Computed tomography scan was performed in both cases and showed a large tumour arising from the prostate. Prostate specific antigen was less than 4ng/ml in the two cases and core needle biopsy performed and samples taken for histology. The histology reports showed embryonal carcinoma and STUMP in the first and second cases respectively. Conclusion Prostate sarcomas are uncommon but may pursue aggressive clinical course while STUMP has a variable course. Early diagnosis and use of combined modalities of treatment may be required to improve survival.
Gastric carcinosarcoma is a rare biphasic tumor that consists of both carcinomatous and sarcomatous components. Clinical presentation and neoplastic markers are not specific for the disease. Moreover, CT scan cannot distinguish among gastric carcinoma, sarcoma or carcinosarcoma, so it is essential to perform histopathological and immunohistochemical analysis on biopsy specimens or resected tissue to ensure a correct diagnosis. A 72-year-old woman was transferred to our Department from another hospital with a diagnosis of a bleeding tumor localized on the lesser gastric curve, infiltrating the left hepatic lobe. The mass was treated as a gastric malignant mesenchymal neoplasia (gastro-intestinal stromal tumor versus sarcoma) infiltrating the liver. Owing to the bleeding, no further invasive examinations, such as fine needle aspiration biopsy, were planned. Furthermore, no neoadjuvant chemotherapy could be administered before surgery due to persistent anaemia. The scheduled surgical procedure was an atypical gastric resection with “en bloc” hepatic resection. This operation included upper polar and lesser curve resection, with tubulization of the stomach along the greater curve, as well as left lateral hepatic sectionectomy. Histopathological examination and immunohistochemical staining confirmed the diagnosis of gastric carcinosarcoma. This is first report of gastric carcinosarcoma with local liver infiltration, treated with surgical resection.
Objective: A rare case of possible hereditary predisposition to autoimmune neuropathy Background: This case report is of a patient who presented two episodes of Facial paresis in her live without ascertained apparent causes. Bell’s palsy is commonly known as peripheral idiopathic facial nerve palsy, because in the most cases the triggers remain unknown (1). Case Report: I want to present a case of a 34 year old woman who we will call A.B. and who came to us to evaluate the severity of the sequelae of a Bell´s palsy and any eventual need for cosmetic measure. But she had another Bell´s Palsy 9 years ago, so I started to investigate the most common and treatable causes of Facial paresis. I found a significate increase of anti-bodies against ganglioside GM2. When I explained to her that these anti-bodies is commonly related with several neurological diseases, she started to investigate her family history and she found that his father’s brother died of GuillainBarré syndrome about 40 years ago.
INTRODUCTION Acute myopericarditis is an inflammatory disease of myocardium and pericardium. The disease has variable presentation ranging from mildly symptomatic cases to severe disease manifested by cardiomyopathy with associated risk of sudden cardiac death. However, the association with intramyocardial hemorrhage (IMH) has not been previously described. CASE REPORT We describe an IMH detected by cardiac magnetic resonance imaging, in a patient with classical ‘de novo’ myopericarditis. To the best of the authors’ knowledge, this has not been previously described in patients without associated haematological or connective tissue disorders. CONCLUSION The adverse prognostic signal of IMH in acute myocardial infarction may also be reflected by IMH in acute myopericarditis and lead to adverse ventricular remodeling. The pathophysiology of IMH in myopericarditis is unknown and warrants further exploration.
SYNGAP1 Mutation in absence Epilepsy with eyelid myoclonia: A Literature Overview and A Case Report from Qatar
Background: SYNGAP1, which encodes a RAS-GTPase-activating protein, is located on the short arm of chromosome 6.Mutations of the SYNGAP1 gene were first identified in 2009 in patients with nonsyndromic intellectual disability (ID) acquired microcephaly, and autism spectrum disorder (ASD), followed in 2013 by recognition of their important role in the developmental and epileptic encephalopathies (DEEs). Developmental delay was identified soon after birth in the majority of patients and pre-ceded seizure onset in all. Development regressed or plateaued with seizure onset were observed. Language was severely impaired together with intellectual disabilities and some other features (1, 4).Most affected individuals have de novo mutations, with truncating mutations predominating, although missense mutations, chromosomal translocations, or microdeletions disrupting SYNGAP1 are also described. (1,5).
Acute cauda equina syndrome due to lumbar spinal stenosis caused by prolonged supine position during cardiac catheterization: a case report
Background: Cauda equina syndrome (CES) is a severe neurologic condition marked by progressive loss of function of the neurologic elements in the spinal canal below the termination of the spinal cord. This article reports an instructive case of CES with acute aggravation of neuropathy after catheter ablation for atrial fibrillation. Patient concerns: A 63-year-old Japanese man underwent catheter ablation for atrial fibrillation. Because he complained of severe low back pain and numbness in the posterior of both lower limbs while in the supine position, he was given analgesia with pentazocine and sedated with propofol, and the procedure continued. He was then forced to maintain lumbar extension while in the supine position for 13 hours. After the treatment, he noticed urination disor-der, numbness, and paralysis of both lower limbs. Diagnosis: Neurological findings included sensory impairment and motor deficit of L5 and below, including bowel/bladder dysfunction. Lumbar magnetic resonance imaging showed severe lumbar spinal stenosis at L4-L5. He was diagnosed with CES due to lumbar spinal stenosis. Interventions: The patient received emergency surgery for L4-L5 decompression. Decompression of the spinal canal was achieved 33 hours after the start of catheterization. Outcomes: The patient’s leg symptoms improved immediately after surgery, and he was able to walk with a walker. On postoperative day 6, the urinary catheter was removed. However, he experienced urinary retention and needed intermittent self-directed urination. Five months after surgery, he was able to urinate on his own, and completed the intermittent self-directed urination. Nine months after surgery, his muscle strength had recovered almost completely, and he was able to walk with a cane. However, bladder dysfunction such as frequent urination and residual urination remained 4 years after surgery. Lessons: If the supine position elicits low back pain and leg numbness, the presence of lumbar spinal stenosis should be considered. Forcing…