A Case with Weaver Syndrome Operated for Congenital Cardiac Defect

An 11-month-old Turkish female infant with Weaver syndrome together with atrial septal defect and patent ductus arteriosus which was operated successfully is reported. Weaver syndrome is a very rare disorder of unknown etiology characterized by accelerated growth of prenatal onset, advanced osseous maturation, special craniofacial features, umbilical hernia, and hoarse low-pitched cry. Congenital cardiac defect is not a usual finding. The presented case is the first reported child with Weaver syndrome in the literature operated for a congenital cardiac defect.     

先天性肛门闭锁伴非典型MRKH综合征1例

1临床资料患儿,女,13岁,因会阴部畸形于生后3d在当地医院行经腹会阴肛门成形术,术后经过顺利。近年排尿正常,大便尚规律,污裤3～5次/周,干燥时伴有排便困难,没有出现过规律性腹痛症状。入院查体:营养及体格发育良好,心、肺听诊正常,腹部平坦,肝、脾不大,未触及异常包块。会阴部所见:尿道外口前移,未见处女膜及阴道外口发育,大阴唇残迹堆积于尿道外口腹侧。成形之肛门外口外观尚满意,肛门指诊可通过成人小手指,肛门括约肌主动收缩功能较差。辅助检查:彩色超声显示子宫发育小,阴道内积液,阴道末段闭锁,双肾、输尿管及膀胱正常。CT报告:膀胱、…     

Cardiac tumor in Gorlin syndrome

A cardiac fibroma in a newborn is reported. The infant had skeletal stigmata of Gorlin's syndrome and the mother had known Gorlin's syndrome.     

先天性风疹综合征1例

患儿,男,4岁,反复抽搐3年6个月来诊。其母孕3个月时因高热1周查风疹病毒抗体阳性。患儿足月顺产,医院出生,体质量2500g,3个月时家长发现患儿不能看见物体,诊为先天性白内障,予以摘除手术。6个月出现抽搐,经对症治疗效果欠佳。患儿至今不会坐,不会说话,吞咽困难,时有呛咳,视力差,无听力,大小便不能自行控制。查体:神清,精     

先天性心脏病并Kasabach-Merritt综合征1例

患儿，女，2h，因发现皮肤出血点2h入院。第1胎第1产，足月顺产，母亲贫血（血红蛋白60g／L）。无家族史。查体：足月儿貌，反应可，全身弥散性充血性大小针尖至豆粒的鲜红色皮肤隆起物，压之褪色，伴少量瘀斑见图1。双肺听诊正常。心律齐，胸骨左缘2、3肋间可闻及隆隆样杂音。腹部平软，肝脾不大，肠鸣音正常。     

Two Unusual Cases of Congenital Rubella Syndrome Associated with Acute Myelocytic Leukemia or chilaiditi's Syndrome

In the Ryukyu Islands of Japan, an extensive epidemic of rubella occurred from the end of 1964 until the beginning of 1965. Approximately 400 children with congenital rubella syndrome were born in 1965 [1]. Two boys with unusual associated problems are reported in this paper. One case was complicated with leukemia and the other with Chilaiditi's syndrome.     

先天性环状缩窄带综合征1例

先天性环状缩窄带综合征是指肢体的不同节段上出现环状缩窄束带畸形,呈皮肤环形沟状凹陷,直径缩小,重者缩窄远端可出现淋巴水肿,神经麻痹,更有甚者可伴表皮囊肿[1].其特点为下肢多于上肢,远端多于近端,可单发或多发,伴或不伴指端缺损或畸形,发生在小腿部的环状缩窄常并有马蹄内翻足畸形,临床上偶见报道[2-3].2007年12月河南省人民医院收治1例先天性环状缩窄带综合征患儿.现报告如下.     

Congenital Subclavian Steal Syndrome Associated With Heterotaxy Syndrome and Atrioventricular Septal Defect

An infant under follow-up evaluation since the fetal stage was detected to have subclavian steal syndrome (SSS) associated with heterotaxy syndrome and atrioventricular septal defect. Such a complex association has not been reported previously. Congenital SSS occurs as a result of a subclavian artery originating from the main pulmonary artery through the ductus instead of the aortic arch. In rare cases, as in the reported case, it may occur due to proximal segment atresia of the left subclavian artery.     

A Case of Multiple Pterygium Syndrome Associated with Chronic Idiopathic Intestinal Pseudo-Obstruction Syndrome

Multiple pterygium syndrome (MPS) is a rare condition characterized by pterygia of the neck, finger, antecubital, popliteal, and intercrural areas. The present case study describes a male patient afflicted with this condition. This case has two unique features 1) the patient exhibited both mental and physical retardation at 2 years of age, a rare symptom of this disorder, and 2) the patient also had chronic idiopathic intestinal pseudo-obstruction syndrome (CIIPS). Although the pathogenesis of both MPS and CIIPS is unclear, some features of the present case suggest a possible pathogenic mechanism.     

Congenital Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Associated with Hypoplastic LeftHeart Syndrome

Three full-term infants died in the first month of life with hypoplastic left heart syndrome (HLH) and persistent pulmonary hypertension (PPH). At postmortem examination, they were found to have alveolar capillary dysplasia with misalignment of pulmonary veins (ACD with MPV). The association of HLH syndrome, and ACD with MPV with intestinal malrotation and/or obstruction, is unique. Decreased blood flow in the ascending aorta in fetuses with left outflow tract obstruction might cause vasoconstriction of pulmonary arterioles to maintain cerebral perfusion. Vasoconstriction early during embryogenesis might lead to decreased growth and development of alveolar capillaries and pulmonary veins. This results in pulmonary hypertension, and the arterial blood is forced to bypass the deficient capillary bed and can drain only via the anomalous bronchial veins. Received October 26, 1999; accepted March 2, 2000.     

巨细胞病毒相关性先天性肾病综合征1例

巨细胞病毒(CMV)相关性先天性肾病综合征(CNS)国外已有报道.CMV与CNS可能存在病因关系.本院收治1例CMV相关性CNS.现报告如下.     

A Case of Mixed Bacterial Meningitis Associated with a Congenital Spinal Epidermoid

A case of mixed bacterial meningitis with congenital spinal epidermoid is reported. E. coli and S. faecalis were isolated simultaneously from the cerebrospinal fluid of a 14-month-old girl who had a continuing fever for 5 days. The clinical response was very poor, whereas bacteria detected showed high sensitivity in vitro to the antibiotics used clinically. Thus a myelography and a CT scanning of the lumbosacral region were performed one month after admission, when a spinal epidermoid was forced, containing an abscess connected to a thin dermal sinus which could not be recognized macroscopically. The patient recovered completely after surgical treatment.     

EB病毒相关性噬血细胞综合征1例

患儿,女,2岁3个月,因发热1.5个月,面色苍白1个月,牙龈出血2次入院。1.5个月前患儿首次在我院查EBV—IgM( );骨髓报告为增生性贫血骨髓象,予对症处理,无效,近3周出现弛张热,面色苍白进行性加重,自动出院。1周前牙龈出血2次入我院。既往史、个人史、家族史无异常。查体:血压10.5/7.0kPa,神志模糊,面色苍黄,全身轻度水肿,     

Left Ventricular Cardiac Fibroma in a Child Presenting with Ventricular Tachycardia

Cardiac tumors in children are rare. Although most are histologically benign, they can be associated with life-threatening arrhythmias and sudden death. We report a 7-year-old boy, with a first episode of symptomatic tachycardia, who was found to have a left ventricular (LV) fibroma. He had a normal echocardiogram prior to an electrophysiology study, which revealed a sustained monomorphic ventricular tachycardia and a radio-opacity near the LV apex. These findings prompted a cardiac MRI, which demonstrated a discrete mass on his LV apex and free wall. Our case emphasizes that structural heart disease should be aggressively pursued in children presenting with ventricular tachycardia.