肺泡毛细血管发育不良一例报告并文献复习

目的 报道1例肺泡毛细血管发育不良(alveolar capillary dysplasia,ACD),并复习文献20例.方法 自Medline检索国外报道病例.结果 本例为足月顺产,生后5 h开始出现呼吸窘迫,给予呼吸机辅助呼吸等无效,生后第4天死亡,尸检病理学诊断符合肺泡毛细血管发育不良.21例中,19例足月儿,2例早产儿.19例出生体重正常,男∶女=7∶14.15例出生Apgar评分正常;16例在出生24 h内出现缺氧症状,5例在生后1～19 d内起病;20例出现肺动脉高压,全部患儿出现心脏血液右向左分流.20例给予呼吸机辅助呼吸;7例行高频振荡通气;12例行体外膜肺支持;14例行一氧化氮吸入治疗,4例行肺表面活性物质治疗.6例行肺部活检.胸部X线检查显示,3例表现正常,9例出现气胸,7例出现双肺网状影、颗粒状影以及弥漫性斑片状影、透过度减低等,2例肺血管影减少.全部21例均死亡,其中8例在出生10 d内死亡,7例在出生30 d内死亡,最长存活时间为4个月.14例伴有先天性心血管系统、消化系统、泌尿系统、呼吸系统等畸形,其中1例伴发染色体畸形,2例有家族遗传倾向.结论 目前,本病尚无特效治疗、且预后不良、医疗费用巨大.当新生儿出现呼吸衰竭或者PPHN,常规治疗无效时,应该高度怀疑此病,并行常规开放式肺组织活检,以明确诊断.     

Rhabdomyomatous dysplasia of the lung: a case report with review of the literature

The occurrence of rhabdomyomatous dysplasia of the lung in a macerated term baby with multiple congenital anomalies is described. The hypoplastic right lung revealed abundant striated muscle in the alveolar septa and bronchial walls of the middle and lower lobes. A brief review of the literature is followed by a discussion of the pathogenesis of this rare pulmonary malformation.     

A case of congenital diaphragmatic hernia with intradiaphragmatic pulmonary sequestration: case report and literature review

Extralobar pulmonary sequestration (EPS) can occasionally be found incidentally in congenital diaphragmatic hernia (CDH). Extralobar pulmonary sequestration usually arises in the chest or the abdomen; rarely in the diaphragm. We report a neonatal case of antenatally diagnosed CDH associated with intradiaphragmatic EPS.     

Chiari malformation caused by craniometaphyseal dysplasia: case report and review of literature.

Chiari malformation is commonly considered a congenital condition. To our knowledge, reports of progressively symptomatic Chiari Iota malformation with craniometaphyseal dysplasia are rare. The authors present a case of progressively symptomatic Chiari Iota malformation occurring in an 11-month-old infant with craniometaphyseal dysplasia. The patient presented with a typical facial appearance and radiological skeletal survey. Posterior fossa decompression was performed. In the meantime, the patient was given Rocaltrol (calcitriol) and adopted a low calcium diet. His neurological symptoms were markedly improved after surgery. The clinical presentations, radiographical features and prognosis of the patient are discussed with reference to the literature.     

Alveolar capillary dysplasia presenting as pneumothorax: a case report and review of literature

Alveolar capillary dysplasia, although rare, is a universally fatal form of persistent pulmonary hypertension of the newborn. We report a case of a newborn male baby who developed respiratory distress and pneumothorax 11 h after an uncomplicated delivery. He deteriorated despite full ventilatory support and extracorporeal membrane oxygenation (ECMO). Open lung biopsy provided a diagnosis of alveolar capillary dysplasia and decision was made to withdraw treatment.     

己糖激酶缺乏症 1 例报告并文献复习

目的探讨己糖激酶缺乏症的临床特点及基因变化。方法回顾分析1例己糖激酶缺乏症患儿的临床资料,并进行相关文献复习。结果男性患儿,6个月,临床表现为新生儿期高胆红素血症、非球形红细胞溶血性贫血、网织红细胞升高等。基因检查发现HK1存在2个杂合突变位点c.995+5GA(内含子12)和c.2216GC(外显子20);患儿父母均为复合杂合突变,c.995+5GA来自父亲,c.2216GC来自母亲。文献检索已有报道的32例患者,多表现为出生时贫血、新生儿黄疸及肝脾肿大,基因检测以HK1基因外显子和内含子核苷酸点突变为主。结论本例患儿为中国首例经基因检测确诊的已糖激酶缺乏症。临床疑似己糖激酶缺乏症时,应尽早进行基因检测。     

Cholecystokinin administration in congenital diaphragmatic hernia--a case report and review of the literature.

Deterioration in the respiratory function of a newborn infant with a repaired diaphragmatic hernia and respiratory insufficiency followed administration of cholecystokinin for cholestatic jaundice. The possible mode of action is discussed and a vasoactive/bronchoactive effect is proposed.     

Epigastric heteropagus: a case report with review of the literature.

Incomplete conjoined twinning or heteropagus attached at the autosite's epigastrium is an extremely rare form of conjoined twinnings. We report a case of epigastric parasitic twinning in which the parasite has a well developed lower trunk and pelvis with rudimentary lower limbs, and well developed upper extremities without shoulder girdles and thoracic cage. The clinical features of this rare entity are discussed with a literature review. We emphasize that in spite of monstrous appearance, autosite component of epigastric heteropagus can be treated successfully with minor surgery. This fact should be kept in mind during the intrauterine evaluation of these type of anomalies in order to avoid needless terminations.     

先天性皮肤缺损三例报告并文献复习

目的 探讨先天性皮肤缺损的病因、分类、治疗及预后,提高该病的诊治水平.方法 回顾性分析我院治疗的3例先天性皮肤缺损患儿发病特点、治疗过程、方法,并复习国内外文献中报道的皮肤缺损305例,总结先天性皮肤缺损的临床特点及诊治经验.结果 3例患儿缺损皮肤均由羊皮纸样瘢痕组织愈合,无组织挛缩,无活动障碍.305例患儿中死亡8例;保守治疗234例;手术治疗63例,其中因瘢痕挛缩影响肢体功能者5例.该病致死率、致残率低,预后良好.结论 先天性皮肤缺损是一种病因尚不明确的疾病,创面表浅者多可经保守治疗后痊愈,骨外露、重要脏器外露、深度缺损宜适时采用手术治疗,该疾病若能给予正确处理,预后良好,对患儿日常生活影响小.     

Salmonella vertebral osteomyelitis: a case report with literature review

Salmonellosis rarely causes osteomyelitis in previously healthy children. A 15-year-old girl was found to have vertebral osteomyelitis due to Salmonella cerro, the first-reported case to the best of our knowledge. Standard treatment with ampicillin and trimethoprim-sulfamethoxazole failed to cure the infection. She recovered after a course of moxalactam therapy and surgery.     

下颌骨肢端发育不良伴A型脂肪代谢障碍一家系报告并文献复习

目的探讨LMNA基因突变所致下颌骨肢端发育不良伴A型脂肪代谢障碍(MADA)的临床特征。方法回顾分析1例LMNA基因纯合突变患儿的临床资料及其家系基因检测结果,并复习相关文献。结果女性先证者,7岁,重度矮小,特殊面容(圆脸、双眼睑色素沉着、喙状细鼻、口裂小伴牙列拥挤、咬合不正、牙齿发育不全),骨骼畸形(小下颌、双侧锁骨发育不全、指/趾末端短棒状),头发稀疏、无光泽,皮肤色素沉着、弹性差,指/趾甲发育不良,肘膝关节僵硬活动受限、下蹲不全,四肢及躯干皮下脂肪菲薄,肌力无异常,学习成绩优秀。患儿父母、姐姐表型正常,弟弟表现与先证者类似,但程度较轻。高通量测序分析发现患儿及其弟弟LMNA基因(NM-170707.3)存在纯合错义变异c.1580GA,p.Arg527His;其父亲与母亲均携带该位点的杂合变异。结论 MADA有特征性的临床表现,基因检测可进一步明确诊断。     

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。     

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.     

婴儿型低磷酸酶血症1例报告及文献复习

目的 加强对婴儿型低磷酸酶血症的认识.方法 对1例婴儿型低磷酸酶血症的临床特点进行分析,并复习相关文献.结果 婴儿型低磷酸酶血症多在生后最初6个月起病,表现为高钙血症、呼吸道感染、广泛的骨化不全及干骺端的佝偻病改变,病死率高.结论 对婴儿型低磷酸酶血症应加强认识,争取早期诊断,及时治疗,以改善预后.     

Polyorchidism: a case report and review of the literature.

We report on a case of polyorchidism associated with left-sided inguinal hernia and hydrocele. Biopsies of both testes revealed normal histological pattern. After the hernia repair and hydrocelectomy both testes were left at their original places in the scrotum and fixed. Polyorchidism and its management are discussed briefly.     

Meconium periorchitis: case report and literature review.

Meconium periorchitis (MPO) is an uncommon entity associated with healed meconium peritonitis. The typical presentation is soft hydrocele at birth which becomes harder in weeks as the meconium calcifies. It mimics a scrotal mass, and, without knowledge of this rare disease, this may lead to unnecessary surgery. Both the masses and the calcifications have the tendency to resolve spontaneously without compromising the testicle. Sonographic features together with an abdominal plain film are diagnostic, and visualization of the normal testicle may be helpful in differentiating this tumor-like lesion from scrotal tumors. A case of a meconium periorchitis is reported on and the radiological and histological features are discussed with a literature review on the subject.     

Congenital tracheobiliary fistula: a case report with review of literature

Congenital tracheo-or-bronchobiliary fistula is a rare anomaly. Here, we present a malnourished child with persistent and recurrent respiratory symptoms. Flexible bronchoscopy and imaging studies were carried out to ascertain the diagnosis, anatomy and associated anomalies prior to surgery. Patient underwent successful corrective surgery with complete resolution of symptoms.