Polyorchidism in a newborn: case report and review of the literature

A case of polyorchidism in a newborn is reported. The left scrotum contained two testes sharing the same epididymis and vas deferens. The histometric testicular parameters were normal in the three testes, except for a slightly reduced tubular fertility index in the supernumerary testis.     

Paraurethral cysts in newborn: a case report and review of literature.

Paraurethral cysts are uncommonly reported in the newborn. Twenty-eight cases have been reported in the English literature until now. These lesions generally resolve spontaneously. For this reason, a conservative approach is recommended, especially in paraurethral cysts of newborn without complications and symptoms. In this paper, we describe a female neonate who had a paraurethral cyst that spontaneously resolved one month after birth and review the literature.     

Evaluation and management of priapism in a newborn: A case report and review of the literature

Idiopathic neonatal priapism is a rare and poorly understood phenomenon. The case of an otherwise healthy premature male newborn who was noted to have a persistent penile erection on the first day of life is presented. A Doppler ultrasound of the penis was performed, along with the first-ever cavernous blood gas analysis reported in a newborn. These investigations indicated that the presentation was consistent with nonischemic (arterial or high-flow) priapism. The patient was managed conservatively and the erection resolved fully on the sixth day of life. A review of the existing literature identified polycythemia as the most common identifiable cause of priapism in newborns, but the majority of cases are idiopathic. In most instances, observation alone is appropriate and spontaneous detumescence occurs. There are no published reports of erectile impairment following neonatal priapism, which suggests that this condition is relatively benign in the absence of other disease states.     

Giant gastrinoma in a child: case report and review

Gastrinomas are rare neuroendocrine tumours. A 9-year-old boy who initially presented with recurrent upper abdominal pain and was managed as hyperacidity syndrome was later diagnosed to have a primary, retroperitoneal, extra pancreatic gastrinoma after an asymptomatic period of 6 years is presented. At the second presentation, the contrast-enhanced CT revealed an epigastric mass and serum gastrin was grossly elevated. A complete excision of the mass was done; histopathological evaluation showed a well-differentiated neuroendocrine tumour. At a year follow up, the child is asymptomatic and the review imaging and serum gastrin levels are normal.     

Giant primary posterior mediastinal hydatid cyst in a child: report of a case and review of literature

Primary posterior mediastinal cyst is an exceptionally uncommon manifestation of hydatid disease especially in pediatric age group. We herein present the account of a giant posterior mediastinal hydatid cyst in an 8-year-old boy that was peculiar due to the absence of typical clinical and radiological features of hydatid disease. The diagnosis was established perioperatively by a combination of surgical and pathological findings. The report depicts one of the myriad presentations of hydatid disease and also emphasizes the verity that it should be considered in the differential diagnoses of any mediastinal cystic lesion even in pediatric patients.     

半侧巨脑综合征1例附文献复习

半侧巨脑综合征(hemimegalencephaly,HME)是一种极为罕见的脑发育畸形,在难治性癫痼的手术治疗中有重要意义.现将我院诊治的1例报道如下.     

无脑回畸形儿1例报告并文献复习

目的探讨无脑回畸形的临床特征及其致病基因LIS1基因的检测特点。方法回顾性分析1例无脑回畸形患儿的临床、实验室检查及基因检测结果,同时复习相关文献。结果女性,5月龄,确诊癫痫20 d,3 d内再次抽搐发作30余次入院,抽搐发作表现为双眼凝视、上翻,口唇、面色发绀,口吐白沫,四肢强直,意识丧失,约2~3 min自行缓解。外周血白细胞计数13.67×109/L,血红蛋白108 g/L,红细胞计数3.90×1012/L,淋巴细胞10.26×109/L;心肌酶谱、肝肾功能均正常;血氨23μmol/L,乳酸2.11 mmol/L;长程视频脑电图显示高度失律,频繁部分性发作,有时继发全身阵挛发作。头部MRI提示无脑回畸形。口服左乙拉西坦片,约27 mg/(kg·d),托吡酯片约6.5 mg/(kg·d),目前暂无发作。患儿LIS1基因检测发现c.232del G杂合突变,导致蛋白移码突变(p.E78Nfs X25);患儿父母均未见突变。结论无脑回畸形患儿可合并癫痫,可能由LIS1基因突变所致,该基因c.232del G位点突变在国内外未见报道。     

Pulmonary arteriovenous fistula in the newborn: a case report of Rendu-Osler-Weber syndrome and a review of the literature.

In most instances, congenital arteriovenous fistula is only one manifestation of a more widespread abnormality; 60% of patients also have hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber syndrome). Among those with congenital pulmonary arteriovenous fistula, the diagnosis is made during infancy in only 15% of patients. We present a case of pulmonary arteriovenous fistula in a newborn and review the literature. This rare condition of newborns can be treated with different surgical procedures. Only 17 cases of newborn pulmonary arteriovenous fistula/have been reported, and only two of those had associated Rendu-Osler-Weber syndrome. The results of surgical procedures were good in most of these cases. We treated our case with lobectomy successfully.     

Presacral neuroenteric fistula in a newborn presenting with an epidural abscess: case report and review of the literature

We describe a newborn infant (<24 hours of age) who presented with mild swelling on the back and buttocks attributable to a neuroenteric fistula complicated by an epidural parasacral abscess infected with mixed coliforms. Epidural abscesses in infancy are extremely rare, and one has not been observed previously in the newborn period. The infant was surprisingly mildly affected. Prompt intervention led to an excellent outcome. Coliforms may colonize the infant gut in <24 hours, even in the developed world. Unexplained swellings on the backs of infants should lead to a search for underlying malformations and an early surgical review, which is best conducted with a combined pediatric surgical and neurosurgical approach.     

Fetus in fetu: a case report and literature review

Fetus in fetu is a rare condition in which a fetiform calcified mass often is present in the abdomen of its host, a newborn or an infant. We report on a case of a 19-month-old girl whose plain abdominal radiograph, ultrasonography, and computed tomography scan revealed a mass in which the contents favor a fetus in fetu rather than a teratoma. The noncalcified vertebral column invisible on the radiographs was identified by the pathologist; therefore, the nonvisualization of the vertebral axis on radiography or on computed tomography scan does not exclude the diagnosis of fetus in fetu.     

Bainbridge-Ropers综合征1例报告并文献复习

目的探讨Bainbridge-Ropers综合征的临床特点及遗传学特征。方法回顾分析1例Bainbridge-Ropers综合征患儿的临床资料,并复习相关文献。结果患儿,男,1岁1个月,以精神运动发育落后、喂养困难、肌张力低下及特殊面容为主要临床表现;全外显子基因测序显示ASXL3基因12号外显子c.3106CT(p.R1036*)杂合突变,确诊为BainbridgeRopers综合征。目前国内外文献共报道30余例,几乎所有患者存在运动、语言及智力发育迟缓,而且程度严重。结论Bainbridge-Ropers综合征是一种与ASXL3基因功能缺失突变有关的疾病,主要临床特征包括精神运动发育落后、喂养困难、肌张力低下及特殊面容。     

Bardet-Biedl 综合征1 例报告并文献复习

目的提高对Bardet-Biedl综合征临床表现和致病基因特点的认识。方法回顾性分析1例确诊为BardetBiedl综合征患儿临床、实验室资料及基因检测结果,并复习相关文献。结果患儿,男,13岁,临床表现有多趾畸形、视网膜色素变性、性腺发育不全、肥胖、智力发育迟缓、肾囊性发育不全、慢性肾功能不全、糖耐量异常、尿道下裂、脂肪肝、贫血、矮小症。高通量测序分析发现患儿BBS2基因存在纯合突变(c.1148_1149dup TC,p.His384Serfs*34),其父母该位点均为杂合子。结论借助于高通量测序技术,有助于得到明确的Bardet-Biedl综合征分子诊断。该患儿BBS2基因的变异未在HGMD、Ex AC及Clin Var数据库中收录,为国内外首次报道。     

Oral teratoma: a case report and literature review

Teratomas are true neoplasms composed of tissues from all three germinal layers. They have an unknown origin and eccentric microscopic appearance. Teratomas arising from the oral cavity are rare in the newborn; only 13 cases have been reported in the literature. We describe a male neonate with an oral teratoma originating from the anterior hard palate that was successfully treated with surgery.