Hyper-IgM syndrome--a case report and a clinical perspective

The authors describe the case of a 28-year-old woman, with a history of recurrent bacterial infections since childhood and multiple hospitalizations for pneumonia, with important pulmonary sequelae, including bronchiectasis which warranted the need to perform a left lobectomy and lingulectomia at age 13. After diagnostic work up, the diagnosis of hypogammaglobulinemia with hyper-IgM was established, and she began regular replacement i.v. immunoglobulin treatment, with good tolerance and no side effects. A sequencing of the entire coding region (exons 1-5) of the AICDA gene was performed, and a homozygous c.260G > C mutation was identified, confirming the diagnosis of type 2 hyper-IgM syndrome. This case illustrates the negative impact that a delay in diagnosis and hence delay in treatment has in patients with primary immunodeficiency since early therapy is the only way to reduce the incidence and severity of complications.     

Recurrent ventricular fibrillation during a febrile illness as the first manifestation of Brugada syndrome--a case report

A case of a 33-year-old male who was admitted to the hospital due to recurrent ventricular fibrillation during a febrile illness is presented. Initially, the patient was diagnosed with acute myocardial infarction and received thrombolytic treatment. Echocardiography and coronary angiography were normal. Right precordial ECG leads recorded one and two intercostal spaces higher than normal as well as ECG obtained following ajmaline administration revealed a typical Brugada pattern.     

Kallmann syndrome--a case report

Kallmann syndrome is a very rare hereditary disease. It is characterized by hypogonadotropic hypogonadism in association with anosmia ot hyposmia, both of which occur as a result of the failure of neuronal migration of the luteinizing hormone releasing hormone (LHRH)--secreting neurons and the neurons of the vemeronasal nerve. It can be autosomal dominant, autosomal recessive, or X-linked mode of inheritance. We report a case of Kallmann syndrome that presented with delay puberty, color blindness, gynecomastia, and absence of smell. Plasma levels of LH, FSH and testosterone were very low. The patient's adrenal and thyroid hormone levels were normal. Chromosome analysis showed 46, XY karyotype without deletion in KAL gene (Xp22.3) from FISH. After 9 months of treatment by HCG and HMG, the amount of pubic hair and the volume of bilateral testes, as well as the level of testosterone had increased. Most importantly, motile sperm count be found in semen.     

Brugada syndrome]

In 1992 we described a new syndrome consisting of syncopal episodes and/or sudden death in patients with a structurally normal heart and a characteristic electrocardiogram displaying a pattern resembling right bundle branch block with an ST segment elevation in leads V1 to V3. In 1998 it was described that the disease is genetically determined with an autosomal dominant pattern of transmission. Three different mutations have been identified. All three mutations affect the structure and the function of the sodium channel SCN5A. Two mutations result in total loss of function of the sodium channel. The other mutation results in acceleration of the recovery of the sodium channel from inactivation. The disease causes 4 to 10 sudden deaths per 10,000 inhabitants per year in areas like Thailand and Laos. Up to 50% of the yearly sudden deaths in patients with a normal heart might be caused by this syndrome. The diagnosis is easily made by means of the electrocardiogram (ECG). The presence of concealed and intermittent forms, however, makes the diagnosis difficult in some patients. The ECG can be modulated by changes in autonomic balance and the administration of antiarrhythmic drugs. Beta-adrenergic stimulation normalises the ECG, while i.v. ajmaline, flecainide or procainamide accentuate the ST segment elevation and are capable of unmasking concealed and intermittent forms of the disease. The prognosis is poor for patients who do not receive an implantable cardioverter-defibrillator. Antiarrhythmic drugs like amiodarone or beta-blockers do not prevent sudden death in symptomatic or asymptomatic individuals.     

Short QT syndrome--a case report

We present two new cases of the short QT syndrome--a 23-year-old male and his 42-year-old mother. Invasive electrophysiological study was negative in both patients. Due to polymorphic ventricular tachycardia recorded during Holter ECG monitoring, an ICD was implanted in the male patient for primary prevention. Blood samples were collected for further genetic studies. Diagnosis and management of patients with the short QT syndrome are discussed.     

Brugada波电交替及临床意义探讨

目的分析Brugada波的电交替现象。方法回顾性分析存在1型Brugada波且伴ST段和/或T波电交替现象的5例患者的心电图及临床特点。结果 5例患者均为男性,年龄18~50岁,入院时均存在1型Brugada波,并且分别在病因诊断确立或病情得到纠正过程中见到ST段和/或T波的电交替现象。ST段电交替可表现为抬高程度(高和低)的交替和抬高类型的(穹隆型和马鞍型)的交替,T波电交替表现为振幅(高和低)的交替和方向(双向和倒置)的交替。结论 Brugada波电交替现象可以发生于多种情况,同样具有多变性的特点。     

Brugada综合征合并先天性长QT综合征一例

目的报告1例反复发作晕厥伴胸前导联J—ST—T显著抬高患者的临床过程。方法1例15岁男孩反复于夜间卧床休息时发生晕厥，对该患者及其父母进行病史询问、体格检查、心电图及超声心动图检查，并行普罗帕酮激发试验。对患者进行冠状动脉，左、右心室造影和心内电生理检查。结果患者及其父母无器质性心脏病依据，无阳性猝死家族史。患者直立倾斜试验阴性，冠状动脉和左、右心室造影正常，心内电生理检查未发现异常，未诱发室性心律失常。患者基础心电图胸前导联J-ST—T显著抬高，晕厥后窦性心动过速时J—ST—T降低伴QTc延长。静脉注射普罗帕酮70mg后胸前导联J—ST与T波第二峰进一步抬高。患者母亲基础心电图ST—T类似于LQT3，但QTc正常。患者父母在静脉注射普罗帕酮70mg后胸前导联ST—T均进一步抬高。结论该患者心电图不同于已报道的Brugada综合征合并LQT3，可能为新的SCN5A基因突变导致的一种新的表型。     

An unusual case of Budd-Chiari syndrome--a case report

The authors report a rare case of congenital Budd-Chiari syndrome in a twenty-eight-year-old male mongoloid. The patient was submitted to azygous-portal disconnection, because of the syndrome of portal hypertension supposedly due to cirrhosis of the liver. He died of hemorrhage of the liver on the third postoperative day. Autopsy revealed a congenital fibrotic obstruction of all suprahepatic veins, with a wide, round ligament containing a functional umbilical vein, which had been routinely ligated during surgery. An extensive review of the literature showed no similar report. The authors speculate that the inadvertent interruption of the round ligament, which until then had served as a pathway for venous draining of the liver, followed by ligation of the anastomoses between the portal and azygous systems, was the factor that triggered the lethal outcome. Thus, this appears to be the first case of congenital Budd-Chiari syndrome predominantly maintained at the expense of the round ligament of the liver, with a patent vascular branch.     

The Brugada syndrome. Outcome of one case

The Brugada syndrome is a rare condition, and due to its mutating manner of presentation it may be difficult to diagnose. We report one case and discuss the diagnostic aspects and the clinical outcome of one patient with characteristic findings of this syndrome. These findings are especially defined by J-ST elevation in the right leads of serial electrocardiographic records, wide oscillations of J points and ST segments during 24-hour Holter monitoring, and nocturnal sudden death. We stress the importance of the Holter monitor findings for diagnostic complementation. Through this method it is possible to establish a correlation between vigil activities and sleep and the variability of the degree of impairment in ventricular repolarization.     

Brugada综合征一例

患者男性 ,37岁。因突然意识丧失 ,行心肺复苏后 4ｄ于 2 0 0 1年 7月 10日入院。 2 0 0 1年 7月 6日患者因头晕在医院静脉滴注丹参注射液过程中突然意识丧失、抽搐 ,心电图示心室颤动 (室颤 ,图 1)。立即给予胸外心脏按压 ,气管插管呼吸囊辅助呼吸 ,静脉注射肾上腺素 ,约 5ｍｉｎ恢复窦性心律 ,意识恢复。 38ｍｉｎ时心电图示室内阻滞伴Ｖ1～Ｖ4导联ＳＴ段抬高 (图 2 )。第 2日复查心电图仍可见室内阻滞 ,ＳＴ段恢复正常。体格检查 :血压 110 / 80ｍｍＨｇ(1ｍｍＨｇ =0 133ｋＰａ) ,神志清楚 ,两肺呼吸音清 ,心界不大 ,心率71次 /ｍｉｎ …     

Brugada 综合征一例

临床资料 患者男性,38岁,因反复晕厥9个月于2001年6月27日入院。发作前无明显诱因,晕厥时伴抽搐,持续数秒至5min不等,能自行缓解,数天至数周发作1次,平素无胸闷、胸痛等不适。期间在广州某医院住院时发作过1次晕厥,当时心电监护示心室颤动（图1）,经心肺复苏等抢救,恢复为窦性心律。家族史:其父有多次晕厥史,于67岁猝死,其弟于27岁猝死。体格检查:体温36.7℃,呼吸20次/min,血压100/70mmHg（1 mmHg=0.133kPa）,双肺及腹部无异常,心率100次/min,心律齐,无杂音,化验血、尿、大便常规、肝肾功能、血糖、心肌酶谱、电解质均正常,X线心脏片、彩色超声心动图未见异常。心电图（图2）:图2为入院第1d的心电图,即晕厥发作后第2d的心电图,示窦性心律,V1～V3ST段下斜型抬高,T波倒置,QRS波呈rsd’,酷似完全性右束支阻滞,QT间期正常。患者入院后未经治疗,亦无晕厥发作。结合临床表现及家族史诊断为Brugada综合征。     

Fibromyalgia (fibrositis) syndrome--a case report

A 25-year-old woman was admitted in our hospital with back pain and both hip joint pain. Pain was abruptly occurred from the beginning of March 1990. Physical examination revealed wide spread pain (occipital area, both shoulder, lumber area, bilateral gluteal area, inguinal area, both Achilles-plantar area) and more than 12 tender points (occiput, trapezius, second rib, supraspinatus, gluteal, greater trochanter, hip joints, pubic bone). Laboratory examination showed no abnormal findings except ANF (1:160). Any examination including X-ray, bone scintigraphy, CT and MRI did not disclose spondylitis, sacroiliitis and enthesopathy. She was diagnosed as primary fibromyalgia/fibrositis syndrome. Treatment with maprotine hydrochloride (30 mg/day) and phenobarbital (120 mg/day) brought approximately 1/3 reduction of pain and tenderness. Psychoanalysis revealed that she had psychological conflicts against her parents and her colleagues at the work. EEG showed a borderline record with irregular basic pattern and 14 & 6 Hz positive burst at the sleep stage. Although the newly proposed criteria for the classification of fibromyalgia was proposed by ACR, fibromyalgia/fibrositis syndrome has been seldom discussed in the Japanese literature. As this syndrome is frequently associated with various rheumatic diseases, hypothyroidism and malignant diseases, we should pay much more attention to understand this syndrome.     

Lymphoscintigraphic manifestations of Hennekam syndrome--a case report

Hennekam syndrome is a rare, recently described genetic disorder in which facial anomalies and mental retardation accompany congenital lymphedema and intestinal lymphangiectasia. Several other somatic abnormalities have variously been described, as have milder degrees of lymphatic dysfunction. The authors herein describe a case of Hennekam syndrome in which the diagnostic difficulties were partially overcome by the judicious use of radionuclide scintigraphy to verify the lymphedematous component of the patient's presentation.     

An atypical case of Brugada syndrome

Polymorphic ventricular tachycardia and ventricular fibrillation are the most common arrhythmias in Brugada syndrome causing syncope or sudden death. Sustained monomorphic ventricular tachycardias are rare in this context. We report of a patient with syncopal episodes due to episodes of sustained ventricular tachycardia, where a Type-I Brugada pattern was revealed after pharmacological provocation with procainamide.