Infantile myofibromatosis causing biliary and pancreatic obstruction: a case report

A case of obstructive jaundice caused by a solitary myofibroma in an 18-week-old infant is presented. Preoperative investigations demonstrated total biliary and partial pancreatic obstruction, although no obstructing lesion was identified radiologically. At operation a 3-cm solitary myofibroma was found in the head of the pancreas. Because of the morbidity associated with resection at this site, a bypass procedure was performed in the hope that the lesion will regress.     

Infantile myofibromatosis

Despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians. We present the data from the 12 cases seen in our institute over the last 14 years and highlight three cases, the first a “typical” case, then a retroperitoneal myofibroma that presented with duodenal obstruction and finally one that presented as an isolated scrotal mass. We have also reviewed the literature on the subject.     

Infantile myofibromatosis: a rare presentation with intussusception

Infantile myofibromatosis (IM) is a distinct but rare clinicopathological entity occurring in neonates and infants. It probably represents a rare soft-tissue tumour made up of undifferentiated myofibroblasts. Its recognition is important since it can be mistaken for a malignancy when, in fact, it has a generally benign prognosis with spontaneous regression. We describe the first case of an infant with IM presenting with acute intussusception due to gastrointestinal as well as the typical skin involvement. Accepted: 1 May 1997     

Infantile myofibromatosis: A radiological review

Infantile myofibromatosis is an unusual condition generally presenting in the newborn period. It may be solitary or multicentric. Sites involved include skin and subcutaneous tissues, muscle, bones and viscera. Nine cases are presented, including one case in an identical twin whose co-twin remained asymptomatic. The radiological features and differential diagnosis are discussed.     

婴儿溃疡性结肠炎1例

<正> 患儿,男,8月,于生后23 d无明显诱因出现腹泻,8～10次/d,黄绿色稀糊状便,无脓血,无呕吐、发热等伴随症状,纳差,精神较好,自服思密达、乐托尔等无效,于3个月时腹泻加重,出现粘液便及脓血便,约10余次/d,反复查大便常规:粘液脓血便,wBC(++～++++),多次查大便培养无致病菌生长。先后予静脉点滴磷霉素、头孢哌酮钠、头孢曲松等抗生素治疗无效,腹泻时轻时重,脓血便与黄绿色稀便交替出现,营养发育较差,轻度贫血貌,心肺     

幼儿黑热病一例

患儿女,1岁3个月,陕西省宝鸡市人,以"间断发热2周"于2007年1月24日人院.患儿入院前2周无明显诱因出现发热,呈不规则发热,最高体温39.5℃,口服布洛芬可退热,无皮疹及脱屑,外院按支原体感染诊断、静滴"阿奇霉素"9 d,"更昔洛韦"7 d及"丙种球蛋白5"3 d无效.     

Lipoblastomatosis in a newborn: case report

A male newborn had a well-circumscribed, solid mass on the right anterior chest wall at birth. Computed tomography disclosed an infiltrating soft-tissue mass over the right 6th to 9th ribs near the costochondral junction. Surgical excision was done at the age of 5 days. Pathologic examination showed lipoblastomatosis.     

婴儿铜绿假单胞菌败血症一例

患儿女,5个月.因发热5 d,皮疹半天于2006年8月16日入院.患儿于入院前5 d出现发热,均为高热.     

Infantile myofibromatosis: a most unusual cause of gastric outlet obstruction

Non-bilious vomiting in the newborn is common. Etiologies include both surgical and medical conditions. Gastroesophageal reflux, soy or milk protein allergy, and prostaglandin-induced foveolar hyperplasia are among the medical causes. Surgical entities include gastric antral webs, pre-ampullary duodenal and pyloric atresia, and hypertrophic pyloric stenosis. We report the unique case of an 8-day-old girl who presented with gastric outlet obstruction secondary to infantile myofibromatosis.     

Infantile myofibromatosis involving the choroid plexus

We present a case of infantile myofibromatosis manifest as a choroid plexus mass followed by spontaneous regression. Infantile myofibromatosis is a common juvenile fibrous disorder occurring in infancy and early childhood. Intracranial involvement in infantile myofibromatosis is rare. It generally occurs in the dura with calvarial invasion and secondary brain compression.     

Intrapericardial teratoma in a newborn: a case report

We report a successfully surgically intervened case of intrapericardial teratoma, which was diagnosed prenatally. Intrapericardial teratomas are rare cases, and surgical management of those tumors are challenging in this age group. The compression effect of the mass led to misdiagnosis of the anomaly as a transposition of the great vessels. We conclude that intrauterine echocardiography in experienced hands is an essential tool for the follow-up of these patients to detect the pericardial effusion and compression of the cardiac structures, which may cause tamponade and heart failure.     

Aggressive infantile myofibromatosis: report of a case of a clinically progressive congenital multiple fibromatosis

We report a case of congenital multiple fibromatosis (infantile myofibromatosis) showing the typical spindle-cellular proliferation with prominent vascularity on light microscopical observations. Electron microscopy showed the abundance of fibroblasts with conspicuous collagen and reticulin fibers together with numerous cells sharing the characteristics of both fibroblasts and smooth muscle cells (myofibroblasts). Neither visceral involvement nor ossification has been detected during the 4-year-long follow-up period. However, the clinical course has shown a slow, continuous, protracted though destructive proliferation of subcutaneous myofibroblastic nodules. These findings are contrasted with previous reports that claimed that the presence of myofibroblasts indicates benign behavior and results in the regression of fibromatous lesions.     

婴儿型Sandhoff 病1 例报告并文献复习

目的探讨婴儿型Sandhoff病的临床表现、诊断及治疗。方法回顾分析1例婴儿型Sandhoff病患儿的临床资料,并复习相关文献。结果 1岁2个月女性患儿,有神经运动发育倒退、顽固性抽搐;父母为近亲婚配;眼底镜检查见眼底红斑;头颅磁共振成像示左侧脑桥可见一小点状长T 2等T1异常信号影,脑白质水肿、弥漫性脱髓鞘改变;染色体核型未见异常;染色体微阵列提示多条染色体发生大片段纯合子;二代基因测序提示HEXB基因外显子11存在c.1263_1268del TGAAGT:P.(Glu422_Val423del)缺失突变及内含子13存在c.1614_2AG:P?剪切突变,父母各携其一。白细胞Hex A、Hex AHex B酶活性分别为84、112 nmol/(mg·h);确诊为婴儿型Sandhoff病。治疗采用丙戊酸钠、左乙拉西坦联合抗癫痫及糖皮质激素,患儿抽搐发作次数逐渐减少,反应较前好转;随访5个月,病情平稳无进展,无抽搐发作。患儿母亲再次妊娠,并于孕21+6周时行羊水穿刺检查,结果提示胎儿与患儿存在相同的突变。结论 Sandhoff病是一种罕见的遗传性溶酶体病,主要表现为进行性神经功能损害,目前缺乏有效的治疗方法,基因检测有助确诊及产前诊断。     

婴儿脊髓空洞症并神经源性膀胱1例报告

1　病例报告　　患儿 ,男 ,1岁 ,因反复发热伴发育迟缓 7个月于 2 0 0 2年 11月 2 8日入院。患儿为第 1胎第 1产 ,母孕早期有先兆流产史 ,足月顺产 ,生后母乳喂养。5个月大时 ,患儿开始出现反复发热 ,体温波动在37.8℃～ 39℃之间 ,少汗或无汗 ,皮肤干燥 ,四肢活动少 ,营养差。