Anaestethic problems in Sanfilippo syndrome. A rare case of adult patient

The authors report the case of a female patient (41 years old) affected by mucopolysaccharidosis type III or Sanfilippo syndrome submitted to a gynecologic surgical procedure and describe the main anesthesiologic problems. A sub-arachnoid anesthesia with hyperbaric Bupivacain 0.5% was used. This technique proved to be safe and convenient without peri- and postoperative complications.     

A rare cause of the pulmonary-renal syndrome: a case of atypical haemolytic-uraemic syndrome complicated by pulmonary haemorrhage

Pulmonary haemorrhage is a potentially life-threatening event that may occur in patients with pulmonary-renal syndromes. These syndromes have typically been thought to occur in small-vessel vasculitides, such as ANCA-mediated disease, Goodpasture's disease and other autoimmune conditions including systemic lupus erythematosus or anti-phospholipid antibody syndrome. Here, we present a rare cause for pulmonary haemorrhage with associated renal failure-atypical haemolytic-uraemic syndrome. In this case, renal biopsy was integral to providing a diagnosis and guiding therapy.     

Liver biopsy complicated by hemorrhage in a patient with ARC syndrome

ARC syndrome is a rare disorder consisting of arthrogryposis, renal tubular acidosis and cholestatic liver disease. We report the case of a 5-week-old patient who underwent a percutaneous liver biopsy complicated by hemorrhage, and was subsequently diagnosed with ARC syndrome. A review of the literature demonstrates that these patients are at increased risk of bleeding caused by platelet dysfunction. The evaluation and management of unexpected hemorrhage in pediatric patients as a result of undiagnosed congenital bleeding problems is discussed.     

Chronic pulmonary thromboendarterectomy complicated by antithrombin III deficiency and antiphospholipid syndrome

Pulmonary thromboendarterectomy was performed on two patients with chronic pulmonary thromboembolism showing thrombotic tendency. Patient 1 was a 25-year-old male with the disease complicated by congenital antithrombin III deficiency. Patient 2 was a 21-year-old male with the disease complicated by antiphospholipid syndrome. Both patients were admitted to the center upon showing dyspnea. Lung perfusion scintigraphy revealed multiple defects in the right and left lungs. Pulmonary arteriography showed occlusion and stenosis from lobar to segmental arteries. Cardiac catheterization showed marked pulmonary hypertension. Pulmonary angioscopy confirmed the presence of organized thrombi while an intravascular ultrasound revealed a thinkening of the pulmonary arterial walls in both lungs. After the insertion of an inferior vena cava filter in each patient, surgery was performed. Following a median sternotomy, a cardiopulmonary bypass was utilized to induce deep hypothermia at a pharyngeal temperature of 16 °C, after which a thromboendarterectomy of the bilateral pulmonary arteries was performed under intermittent circulatory arrest. A large amount of organized thrombi was extracted from these arteries. After surgery, both patients showed good postoperative outcome with improved blood flow in both lungs, reduced pulmonary arterial pressure and increased cardiac output.     

肾衰竭并发格林巴利综合征一例

患者,女性,44岁,17 d前因感冒口服安乃近后出现少尿,次日无尿,于2008年4月11日转入本院.当地医院检查:Hb 79 g/L,Scr 1076μmol/L,BUN 19.2 mmol/L,K+5.3 mmol/L.3月26日起当地医院予血液透析,每周两次.4月2日血液透析时着凉后出现面部麻木,以口周明显,言语不清,进食经口角外溢,四肢对称性乏力.既往发现血压高4年余.入院查体:BP 160/110 mm Hg,额纹浅,蹙眉、鼓腮不能,闭目力弱,双侧鼻唇沟浅,口角不歪,伸舌居中,四肢肌力Ⅳ级,对称性减弱,腱反射减弱,病理征阴性.辅助检查尿蛋白1.0 g/L,红细胞阴性.     

葡萄籽原花青素对糖尿病大鼠糖基化终产物及肾脏结缔组织生长因子的影响

系统性红斑狼疮（SLE）伴抗磷脂综合征（antiphospholipid syndrome,APS）并发视网膜血管阻塞较为罕见,现报告1例。患者,女,15岁,因反复水肿3个月,视物模糊20 d入院。入院时双眼视力0.01,双下肢轻度水肿。实验室检查BUN 21.05 mmol/L,Scr 138.2μmol/L.UA 369.8μmol/L,Alb 22.5 g/L,Glo 28.6 g/L,TG 4.52 mmol/L,     

人类获得性免疫缺陷综合征合并播散性马尔尼菲青霉菌病和噬血细胞综合征一例并文献复习

目的提高对人类获得性免疫缺陷综合征（AIDS）合并播散性马尔尼菲青霉菌病（PSM）、噬血细胞综合征（HPS）和组织细胞坏死性淋巴结炎（HNL）的认识。 方法分析1例AIDS合并播散性PSM、HPS以及HNL（疑诊）的诊疗过程,并结合相关文献进行复习。 结果1例43岁男性AIDS合并播散性PSM、HPS以及HNL（疑诊）患者,给予综合抗感染、抗炎（小剂量地塞米松）、护肝及对症支持治疗后,患者体温恢复正常,病情稳定出院。 结论早期诊断及治疗PSM、HPS、HNL是降低患者病死率及改善预后的关键。     

A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis

Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. A 10-year-old boy had severe growth retardation (height standard deviation score −8.15). He had a thin, triangular face, prominent ears and forehead, and big eyes. Megacystis, bilateral hydroureteronephrosis, and residual urine were detected in ultrasonography, but there was no vesicoureteral reflux. Lumbosacral magnetic resonance (MR) showed posterior disc bulging at L4–5. Serum sodium and chloride levels were normal, but mild hypokalemia was overlooked initially. During follow-up, hypokalemic hypochloremic metabolic alkalosis developed, with high urinary chloride and potassium excretion (52 and 43 mEq/L, respectively). The patient, with renal salt loss, was thought to have classic Bartter syndrome due to absence of nephrocalcinosis, presence of persistent hypercalciuria and sensorineural deafness, and presence of relatively mild clinical and laboratory findings, except polyuria initially. The child was treated with indomethacin, spironolactone, and oral potassium in addition to growth hormone (GH). During treatment, he had considerable increase in weight and height compared with the period of GH therapy only. We present this case because, although growth retardation is a major feature of Bartter syndrome, associated GH deficiency is rarely reported in the literature. Diagnosis of Bartter syndrome was made later, as our patient was followed for megacystis and megaureter secondary to the neurogenic bladder and GH deficiency initially; and proteinuria associated with focal segmental glomerulosclerosis responded to treatment for Bartter syndrome.     

Anesthetic management of a patient with Smith-Lemli-Opitz syndrome complicated with thrombocytopenia

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome, characterized by severe growth failure and congenital anomalies (for example dysgenesis, mental retardation, renal and cardiac defects, and various malformation). SLOS results from error of a cholesterol enzyme and generalized cholesterol deficiency. This report describes our experience of a patient with SLOS and thrombocytopenia who underwent anesthesia twice for surgical procedures in a year. The patient received drip platelet transfusion for thrombocytopenia before operations. Anesthesia was induced with inhalation of oxygen, nitrous oxide and sevoflurane, and maintained with oxygen, propofol, fentanyl and low concentrations of sevoflurane. Airway was maintained with laryngeal mask airway. Complications were not seen in this case. One of the problems in anesthetic management of SLOS is difficult intubation because of the typical dysmorphic facial features such as micrognathia, cleft palate and abnormal tongue. We thought that laryngeal mask airway was useful and safe for SLOS patients. Two cases of malignant hyperthermia were reported in anesthetic management of SLOS by using halothane or suxamethonium. In this case, the anesthetic maintenance was mostly with propofol and fentanyl. Malignant hyperthermia did not occur but sevoflurane was used at low concentrations. SLOS presents various problems with anesthetic management and we have to administer general anesthesia carefully.     

Anesthesia for a patient with Ehlers-Danlos syndrome and factor XIII deficiency

Emergency anesthesia was carried out for a patient with Ehlers-Danlos syndrome (type IV) and factor XIII deficiency. The operation was a ligation of the bleeding right subclavian artery. One month later, a transverse colectomy and splenectomy was performed for a necrotic perforation of the colon, but the wound did not heal completely. The patient died of another perforation of the intestine two months later. Anesthetic management of a patient with Ehlers-Danlos syndrome and factor XIII deficiency was reviewed. Particular problems concerning a genetic disease were also discussed.     

Spontaneous acute subdural haematoma and intracerebral haemorrhage in patient with HELLP syndrome: case report

HELLP (haemolysis, elevated liver enzymes, and low platelet count) syndrome can result in a fatal intracranial haemorrhage during the perinatal period. We report treatment of a 32-year-old primigravida who fell into a deep coma during labour with fetal distress, complicated by a spontaneous acute subdural haematoma and intracerebral haemorrhage. Simultaneous emergency operations, evacuation of the acute subdural haematoma and a caesarean section, were performed, during which a diagnosis of HELLP syndrome with disseminated intravascular coagulation was made. Both mother and infant recovered, though hemiparesis persisted in the mother. Patients with HELLP syndrome should be managed as high-risk, which requires an excellent working relationship of the physicians involved. Prompt recognition of intracranial haemorrhagic complications and neurosurgical intervention are particularly important.     

获得性免疫缺陷综合征合并隐球菌性脑膜炎患者的眼部护理

目的总结获得性免疫缺陷综合征（AIDS）合并隐球菌性脑膜炎患者的眼部并发症及眼部护理方法。 方法回顾性分析42例AIDS合并隐球菌性脑膜炎患者的眼部并发症,总结其护理方案。 结果19例患者（37只眼）出现视乳头水肿,6例患者（12只眼）出现视神经萎缩,2例患者（4只眼）出现脉络膜病灶,3例患者（6只眼）出现复视,1例患者单眼合并巨细胞病毒性视网膜炎（CMVR）。11例患者眼底正常。42例患者（84只眼）中17只眼视力为光感～0.1,12只眼视力为0.12～0.3,视力≤ 0.3的患眼占总数的34.5%,55只眼视力为0.4～1.0。 结论临床护理工作中应密切观察患者的颅内压、视力及眼底变化,对低视力患者加强生活技能及视力的训练,有利于控制病情,提高患者的生活质量。     

Preeclampsia complicated by placental abruption, HELLP, coagulopathy and renal failure - further lessons

We present a case of preeclampsia complicated by HELLP (haemolysis, elevated liver enzymes and low platelets) syndrome and marked coagulopathy. The severity of the coagulopathy and haemolysis made renal failure and pulmonary oedema inevitable. We identified a number of discussion points in this case. These were the delay to appreciate the haemolysis, the severity of the haemolysis and its interaction with the treatment of coagulopathy and the conservative management of pulmonary oedema. At these points there were shortcomings in our management of this complex case that merit further discussion.     

Cytomegaloviral epididymitis in a patient with the acquired immune deficiency syndrome

We report on a patient with cytomegaloviral epididymitis and the acquired immune deficiency syndrome. The diagnosis was suggested by epididymitis that was refractory to antibiotics, and by isolation of cytomegalovirus from the urine and semen. The definitive diagnosis was made with immunohistochemical staining for cytomegaloviral antigens in the epididymal ductal cells. Because of the ineffectiveness of antimicrobial agents in this disorder, epididymectomy is the current treatment of choice.