脊髓纵裂合并脊髓栓系、脂肪瘤1例

患者女,11岁。渐进跛行2年。查体:背部有毛发,可扪及L1以下棘突增宽畸形。左下肢较右下肢细,左足内翻,左踝关节僵硬,左足背屈差,跖屈尚可。左下肢肌张力稍高,痛温触觉较右侧差,双下肢远端浅感觉较近侧差,未查见明显感觉障碍平面,深感觉无异常,肛门反射弱。MRI表现(图1~5):腰2椎体呈楔形,其两侧椎板在中线部不连,被脂肪组织充填,相应水平椎管变窄。腰2以下椎管扩大,脊髓圆锥位于腰4椎体水平,且分叉为两个独立的圆形结构,内部呈脑脊液信号,边缘为低信号包膜,部分层面显示两者之间有短T1、短T2及短T1、长T2组织分隔,横断层面显示两圆形结构…     

小儿脊髓栓系综合征根治术的护理配合

脊髓栓系综合征(Tethered cord syndrome TCS)是婴幼儿发育时脊髓圆椎在椎管内上升过程中受膨出的脊膜、增粗变短的终丝、纤维粘连等牵拉,受椎管内脂肪瘤、皮样囊肿等压迫所导致的圆锥缺血缺氧而出现大小便失禁、足畸形、双下肢感觉运动功能障碍等一系列神经功能障碍和畸形的一组征侯群.TCS发病率较高,但由于被认识较晚,病人分散到神经外科、泌尿外科、小儿外科及骨科,极易漏诊和误诊.手术是治疗TCS唯一有效的方法,TCS一旦确诊,不论是否有明确的症状,均应早期手术.2008～2010年我院收治此类患儿51例,经显微外科手术松解脊髓圆椎,终丝离断术后效果良好.现将手术配合与体会报告如下.     

Acute deep venous thrombosis induced by May-Thurner syndrome after spondylolisthesis surgery: A case report and review of literature

BACKGROUNDDeep venous thrombosis (DVT) is a serious complication of lumbar spine surgery. Current guidelines recommend pharmacomechanical prophylaxis for patients at high risk of DVT after spine surgery. May-Thurner syndrome (MTS), a venous anatomical variation that may require invasive intervention, is an often overlooked cause of DVT. To date, no case reports of symptomatic MTS caused by isthmic spondylolisthesis or subsequent acute DVT after posterior lumbar surgery have been published.CASE SUMMARYWe here present a case of a patient who developed acute DVT 4 h after spondylolisthesis surgery, and MTS was only considered after surgery, during a review of a gynecological enhanced computed tomography image taken before the procedure.CONCLUSIONIn conclusion, clinicians should consider MTS in the presence of a dangerous triad: spondylolisthesis, elevated D-dimer levels, and sonographically indicated unilateral deep vein dilation. Consultation with a vascular surgeon is also essential to MTS management.     

Rupture of ovarian endometriotic cyst complicated with endometriosis: A case report

BACKGROUNDEndometriosis (EMs), an estrogen-dependent disease, refers to the appearance of mucosa-covered endometrial tissues (glandular and interstitial) growing in the uterine cavity outside the uterine myometrium. It is commonly seen in women aged 25 to 45, with an incidence of approximately 10%-15%.CASE SUMMARYA 35-year-old unmarried female who denied a history of sex with an intact hymen had multiple dysmenorrhea and pain in the left lower abdomen that recurred during menstruation. Ultrasound examination revealed a dark cystic area measuring 4.9 cm × 4.6 cm on the left side with poor light transmittance, which suggested a left endometriotic cyst. The patient was treated with pain medications (four capsules t.i.d., p.o.). After one month, computed tomography of the abdomen and pelvis revealed a low-density focus measuring approximately 38 mm in diameter, a blurred mesentery fat plane in the pelvic cavity, and pelvic effusion. Ultrasound showed a complex echo density measuring 5.2 cm × 3.0 cm × 4.2 cm in the left ovarian area and a fluid sonolucent area with a depth of 2.0 cm in the pelvic cavity. Left ovarian cystectomy, electrocautery for endometriotic lesions, myomectomy, and pelvic adhesion lysis were performed under laparoscopy. The postoperative diagnosis was left ovarian chocolate cyst rupture and EMs (stage III, ovarian type, peritoneal type).CONCLUSIONLaparoscopic surgery can safely control the symptoms of EMs and effectively eradicate the disease.     

Hemorrhagic fever with renal syndrome complicated with aortic dissection: A case report

BACKGROUNDHemorrhagic fever with renal syndrome is caused by hantaviruses presenting with high fever, hemorrhage, and acute kidney injury. Microvascular injury and hemorrhage in mucus were often observed in patients with hantavirus infection. Infection with bacterial and virus related aortic aneurysm or dissection occurs sporadically. Here, we report a previously unreported case of hemorrhagic fever with concurrent aortic dissection.CASE SUMMARYA 56-year-old man complained of high fever and generalized body ache, with decreased platelet counts of 10 × 10⁹/L and acute kidney injury. The enzyme-linked immunosorbent assays test for immunoglobulin M and immunoglobulin G hantavirus-specific antibodies were both positive. During the convalescent period, he complained sudden onset acute chest pain radiating to the back, and the computed tomography angiography revealed an aortic dissection of the descending aorta extending to iliac artery. He was diagnosed with hemorrhagic fever with renal syndrome and Stanford B aortic dissection. The patient recovered completely after surgery with other support treatments. CONCLUSIONHemorrhagic fever with renal syndrome complicated with aortic dissection is rare and a difficult clinical condition. Hantavirus infection not only causes microvascular damage presenting with hemorrhage but may be risk factor for acute macrovascular detriment. A causal relationship has yet to be confirmed.     

Ultrasound-guided rectus sheath block for anterior cutaneous nerve entrapment syndrome after laparoscopic surgery: A case report

BACKGROUNDAnterior cutaneous nerve entrapment syndrome is defined as abdominal pain due to entrapped intercostal nerves. This is the first report of a patient successfully treated for anterior cutaneous nerve entrapment syndrome after laparoscopic surgery with an ultrasound-guided rectus sheath block. The rectus sheath block physically lysed adhesions and relieved pain from anterior cutaneous nerve entrapment syndrome.CASE SUMMARYThe patient is a 44-year-old man who presented with severe left upper abdominal pain at an operative scar one month after laparoscopic ulcer repair. Diagnosis and treatment were performed using an ultrasound-guided rectus sheath block with 0.1% lidocaine 20 mL. The pain was relieved after the block. The diagnosis was anterior cutaneous nerve entrapment syndrome. Rectus sheath block may be effective for patients with anterior cutaneous nerve entrapment syndrome.CONCLUSIONUltrasound-guided rectus sheath block is a promising treatment modality for patients with postoperative anterior cutaneous nerve entrapment syndrome due to adhesions.     

Double intussusception in a teenage child with Peutz-Jeghers syndrome: A case report

BACKGROUNDPeutz-Jeghers syndrome (PJS) is a genetic disorder characterized by the development of gastrointestinal hamartomatous polyps and mucocutaneous melanin pigmentation. Patients with PJS are at risk of complications such as intussusception. Intussusception is a condition where one segment of the intestine invaginates into another, causing intestinal obstruction. We report a PJS patient who was diagnosed with double intussusception in a single setting. CASE SUMMARYA 16-year-old teenage male PJS patient presented with a history of colicky abdominal pain, vomiting, blood in stools, loss of appetite, and weight loss. On abdominal examination, a vague mass was palpable over the right upper quadrant. Contrast-enhanced computed tomography (CT) of the abdomen was performed and an intussusception involving the jejunum and rectosigmoid junction was observed. The patient subsequently underwent a laparotomy and intussusception involving the jejunum and another over the ileum was noted intra-operatively. Bowel resection and an endoscopic polypectomy were performed, followed by a primary anastomosis. The patient was discharged well and reviewed again one month later, and was noted to be well.CONCLUSIONPJS patients have a high risk of intussusception and can be diagnosed accurately by endoscopic surveillance or radiologically with abdominal CT or magnetic resonance imaging. The mainstay of treatment is surgical intervention followed by endoscopic surveillance with periodic polypectomy.     

Sepsis complicated with secondary hemophagocytic syndrome induced by giant gouty tophi rupture: A case report

BACKGROUNDGouty tophi are a chronic granulomatous caused by a deposition of monosodium urate crystal deposition in the body. Once broken, it may easily induce severe infection. Sepsis complicated with secondary hemophagocytic syndrome induced by gouty tophi rupture is extremely rare in the clinical setting, and no such serious complications have been reported in literature.CASE SUMMARYThis is a 52-year-old Chinese male patient with a 20-year history of gouty arthritis. At admission, the gout stone in the patient’s right ankle was broken and it secreted a white mucoid substance. During the course of treatment, the patient suffered from systemic inflammatory response syndrome multiple times. His condition gradually deteriorated, further complicated by hemophagocytic syndrome. After thorough removal of gout lesions and active anti-infection treatment and control of blood uric acid level, combined with multidisciplinary cooperation, the patient was finally cured.CONCLUSIONSepsis complicated with secondary hemophagocytic syndrome induced by gouty tophi rupture is extremely rare in the clinical setting. Timely and accurate diagnosis is very important to save patients'' lives.     

Exome analysis for Cronkhite-Canada syndrome: A case report

BACKGROUNDCronkhite-Canada syndrome (CCS) is a rare, non-genetic disorder characterized by multiple gastrointestinal polyps, and ectodermal lesions such as alopecia, fingernail atrophy, and skin mucosal pigmentation. Unfortunately, the pathogenesis of CCS is currently unknown. CASE SUMMARYHere, we describe the case of an elderly female with diarrhea, fatigue, and hair loss, who experienced abdominal pain for over half a year and was found to have multiple gastrointestinal polyps. She was diagnosed with CCS and was treated with albumin supplementation and prednisone, and her electrolyte imbalance was corrected. Following treatment, her symptoms significantly improved. To elucidate the role of potential genetic events in the pathogenesis of CCS, we performed exome sequencing using an extract of her colorectal adenoma. CONCLUSIONOur data revealed multiple somatic mutations and copy number variations. Our findings provide a novel insight into the potential mechanisms of CCS etiology.     

Cronkhite-Canada syndrome with steroid dependency: A case report

BACKGROUNDCronkhite-Canada syndrome (CCS) is a rare nonhereditary disease characterized by chronic diarrhoea, diffuse gastrointestinal polyposis and ectodermal manifestations. The lethality of CCS can be up to 50% if it is untreated or if treatment is delayed or inadequate. More than 35% of the patients do not achieve long-term clinical remission after corticosteroid administration, with relapse occurring during or after the cessation of glucocorticoid use. The optimal strategy of maintenance therapy of this disease is controversial.CASE SUMMARYA 47-year-old man presented to the hospital with a 3-mo history of frequent watery diarrhoea, accompanied by macular skin pigmentation that included the palms and soles, and onychodystrophy of the fingernails and toenails. Gastroscopy and colonoscopy revealed numerous polyps in the stomach and colon. After other possibilities were ruled out by a series of examinations, CCS was diagnosed and treated with prednisone. The patient took prednisone for more than 1 year before achieving complete resolution of his symptoms and endoscopic findings. The patient was then given prednisone 5 mg/d for 6 mo of maintenance therapy. With clinical improvement and polyp regression, prednisone was discontinued. Eight mo after the discontinuation of prednisone, the diarrhoea and gastrointestinal polyps relapsed. Therefore, the patient was given the same dose of prednisone, and complete remission was achieved again.CONCLUSIONIt is necessary to extend the duration of prednisone maintenance therapy for CCS. Prednisone is still effective when readministered after relapse. Surveillance endoscopy at intervals of 1 year or less is recommended to assess mucosal disease activity.     

伴小脑萎缩的线粒体脑肌病MELAS一例

线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)是一种少见的遗传性疾病,可累及机体多系统。该病主要临床表现为头痛、癫痫、耳聋、皮质盲及认知功能下降等。MELAS呈卒中样发作,临床易误诊为脑梗死及脑炎,目前尚缺乏特效治疗方法。该文报道1例33岁女性MELAS患者,其以突发头痛、视物不清为首发症状,伴有不完全感觉性失语、听力下降、不能耐受疲劳,急诊颅脑CT显示双侧小脑半球萎缩,入院后经外周血基因检查明确MELAS诊断,予辅酶Q10胶囊、艾地苯醌及维生素E治疗。患者病情好转后出院,随访3个月病情稳定。该病例提示临床医师应提高对MELAS的认识,注意鉴别诊断,避免漏诊或误诊。     

Klippel-Trenaunay-Weber syndrome with ischemic stroke: A case report

BACKGROUNDKlippel-Trenaunay-Weber syndrome (KTWS) is a very rare syndrome that involves three conditions: Cutaneous hemangiomas, varicosities, and soft-tissue hypertrophy of the affected limb. There are few cases of ischemic infarction with KTWS. Here, we describe a case of KTWS with ischemic stroke.CASE SUMMARYA 43-year-old man was diagnosed with KTWS with ischemic stroke. His chief complaints were worsening weakness and spasticity in the right leg. These symptoms had been present for 1 year, but the patient did not receive comprehensive rehabilitation until he underwent a 3-week integrated inpatient rehabilitation program at our center. After the program, his muscle strength, walking ability, and exercise endurance improved. Although relatively rare, clinicians should consider the possibility of a thromboembolic event in KTWS patients. Integrated rehabilitation can help such patients to recover function.CONCLUSIONIn conclusion, although rare, patients with KTWS may experience central nervous system vascular malformations and accompanying stroke. It is necessary to investigate whether such patients have any neurological or comorbid abnormalities. Even in the subacute or chronic period after neurological insult, integrated rehabilitation programs can lead to structural and functional enhancement.     

Prenatal ultrasonographic findings in Klippel-Trenaunay syndrome: A case report

BACKGROUNDKlippel-Trenaunay syndrome (KTS) is a rare congenital disorder. A detailed prenatal ultrasound examination plays an important role in the diagnosis of KTS and the subsequent counseling and follow-up of the patient. CASE SUMMARYA 25-year-old woman attended our department for a regular examination. The whole of the right lower extremity and right buttock were observed to be markedly thicker compared to the left one at 18 wk of gestation. However, the lengths of the right femur, tibia and fibula were in the normal range. No marked edema and fluid/cystic spaces were detected in the lower limbs. There were no other organ abnormalities. The vasculature in the right limb was visibly dilated, with much higher intensive blood flow signals. No congenital embryonic veins were visible in both limbs. The right lower limb exhibited much more hypertrophy compared to the left limb two weeks later. Amniocentesis and genetic tests showed normal results with 46 XX. Despite the normal karyotype, the family opted to terminate the pregnancy. The post-mortem examination confirmed asymmetric hypertrophy of the right limb in the fetus and revealed a large area of marked dark-purple superficial capillary malformations occupying the skin of the right lower extremity. The enlargement of veins and soft tissue hypertrophy were also seen on postnatal X-ray and Magnetic Resonance Imaging. Autopsy revealed severe congestion in the right lower limb. A final diagnosis of KTS was made.CONCLUSIONKTS may be diagnosed prenatally based on the typical features observed during ultrasound examination.     

Gitelman syndrome: A case report

BACKGROUNDGitelman syndrome (GS) is an autosomal recessive salt-losing renal tubulopathy arising from mutations in the thiazide-sensitive Na-Cl cotransporter gene. Due to its low incidence and lack of awareness, GS can be easily misdiagnosed or missed in diagnosis.CASE SUMMARYA 24-year-old male presented with > 4 years of repeated limb weakness without any treatment. The previous day, the patient was bitten by ants and showed weakness of the lower limbs. The patient had hypokalemia (1.66-2.83 mmol/L), hypomagnesemia (0.4 mmol/L), hypocalciuria (1.51-2.46 mmol/d), metabolic alkalosis (7.47-7.54), normal blood pressure, and increased activity of aldosterone and plasma renin activity (PRA) (PRA 6.4 and 16.45 ng/mL/h and aldosterone 330.64 and 756.82 pg/mL in the supine and upright position, respectively). In addition, SLCI2A3 gene mutation with GS was diagnosed. Oral and intravenous supplementation with potassium and magnesium was initiated. Serum magnesium returned to 0.48 mmol/L and serum potassium returned to 3.08 mmol/L, alleviating the patient’s fatigue symptoms.CONCLUSIONGS should be considered in patients with hypokalemia complicated with hypomagnesemia. Genetic testing is essential to confirm the diagnosis.