Phimosis: stretching methods with or without application of topical steroids?

Phimosis has been defined as unretractable foreskin without adherences or a circular band of tight prepuce preventing full retraction. We suggested a new treatment protocol combining betamethasone with stretching exercises to reduce the number of patients requiring surgery for phimosis. Between January 2003 and September 2004, 247 boys aged 4 to 14 years (mean 7.6) were included in this consecutive, prospective, open study. Patients were treated with 0.05% betamethasone cream applied to the distal aspect of the prepuce twice daily for the first 15 days, then once daily for 15 more days. Preputial gymnastics started 1 week after topical application of betamethasone. Ninety-six percent of patients receiving 1 or more cycles of betamethasone showed complete resolution of phimosis. There was a significant difference (P < .001) in response rate between the study and control groups. Only 10 boys in the study group had no response to steroid and stretching. Treatment with topical steroids, combined with stretching exercises, is a suitable alternative to surgical correction (preputial plasty/circumcision).     

Tourniquet syndrome—accident or abuse?

The tourniquet syndrome describes severe strangulations of appendages by hair, cotton or similar material mainly observed in young infants. The painful swellings of digits or external genitals are surgical emergencies because the strangulation can cause ischaemia and tissue necrosis. More than 100 cases of the tourniquet syndrome have been reported in most of which the aetiology was unclear. We have treated five patients with a tourniquet syndrome. Four of them presented with strangulations of one or more toes by hair or threads and one girl was diagnosed with a clitoral tourniquet syndrome. In each case the strangulating material could be removed in time avoiding permanent damage. The lack of any reasonable explanation and the meticulous wrapping made a non-accidental course very likely. Due to the lack of convincing explanations in our cases as well as in most of those described in the literature, we suggest that the tourniquet syndrome is often the result of child abuse, an aetiology overlooked for decades. Conclusion:the tourniquet syndrome in childhood should be included in the list of possible forms of child abuse and should be considered as a differential diagnosis until another aetiology can be convincingly proven.     

Obstructive syndrome caused by trichobezoars: historical disease or disease still current? Description of a case in adolescence

Trichobezoars are masses of entangled material, found in the stomach and intestines, composed of hair ingested by the patient. When the mass grows, symptoms of intestinal occlusion can appear. Trichobezoars in pediatrics are usually found in adolescent females presenting personality disorders and trichophagia. This work describes a case of trichobezoar diagnosed in a 13 year-old girl, wearing a brace for serious scoliosis but absolutely normal from the emotional and psychical point of view, with normal scholastic and familiar situation. Already hospitalized three months before for pneumonia from mycoplasma, the girl comes to our observation for the appearance of vomiting and constipation. The clinical examination reveal an epigastric mass as big as an orange. General conditions and hematochemical tests are good. Lab tests are performed (abdomen echography and upper abdomen MNR) but is the oesophago-gastroscopy which allows the diagnosis. A big trichobezoar is then surgically removed and the gastroenteric symptoms completely disappear.     

Metabolic syndrome: unravelling or unravelled?

Metabolic syndrome comprises the association of risk factors for future cardiovascular disease (hypertension, altered glucose metabolism, dyslipidaemia, and abdominal obesity). It is thought to affect up to 40% of overweight or obese children in the UK. This has coincided with a rise in obesity-related type 2 diabetes in children. The characterisation of co-morbidities has improved since the last review in 2015. This review discusses some of the current theories about disease mechanisms, and reviews the current guidelines to propose a practical screening checklist for identifying and managing affected children. Metabolic syndrome in children impacts on all of us as paediatricians. Careful attention to screening for and management of complications, and consistent diet, exercise and lifestyle advice, can minimise the effects of our obesogenic environment.     

Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report北大核心CSCD

患儿女,足月儿,生后5h,因胎儿期发现心脏畸形,生后发绀1次入院。检查发现存在眼、面部、四肢、心脏多发畸形,全外显子基因检测显示BCOR基因存在致病性杂合突变c.2428C>T(p.Arg810^(*)),该患儿诊断为眼-面-心-牙综合征。住院期间予以辅助通气改善氧合、营养支持等治疗,生后1个月于外院行右室双出口矫治术,眼部病变于眼科随诊择期手术治疗。对于存在眼、面部、心脏多发畸形的新生儿应注意眼-面-心-牙综合征可能,需尽早完善基因检测明确诊断,同时积极给予眼及心血管方面的对症治疗,有助于改善患儿预后。     

Surgical treatment for rebleeding caused by bypass failure after Rex shunt: re-Rex shunt or Warren shunt?

Purpose

Although Rex shunt is an effective treatment for extrahepatic portal venous obstruction (EHPVO), 4–20% children develop rebleeding postoperatively. This study was used to evaluate the surgical treatment of rebleeding after Rex shunt in our center.

Method

From June 2008 to Jan 2017, 12 of 122 children with EHPVO underwent a second operation due to graft stenosis and occlusion after Rex shunt in our center. The abdominal ultrasound and computed tomography (CT) showed the occlusion of bypass vein in nine children, stenosis of bypass vein in two children, and the patency of bypass vein in one child with dysplasia of intrahepatic portal vein. A re-Rex shunt was performed in eight children, of which one child required conversion to Warren shunt due to postoperative rebleeding. Five children underwent Warren shunt due to a narrowed left portal vein shown by intraoperative portal angiography and surgical exploration. All patients were followed up in this study.

Results

The postoperative incidences of re-bleeding and esophageal varices in children with Warren shunt were significantly lower than those in children undergoing re-Rex shunt (P?=?0.027 and 0.015). After a second operation, the rate of bypass vein patency in children with re-Rex shunt was lower than that in children with Warren shunt (50 vs. 100%). The postoperative reduced size of spleen in children undergoing Warren shunt was significantly higher than that of children undergoing re-Rex shunt (P?<?0.05).

Conclusions

Comparing to re-Rex shunt, Warren shunt was a better treatment for rebleeding caused by bypass failure after Rex shunt.

     

Asperger syndrome: to be or not to be?

PURPOSE OF REVIEW: Asperger syndrome is a pervasive developmental disorder characterized by impairments in social interactions, such as nonverbal behaviors, failure to develop peer relationships, and lack of social reciprocity with restricted, repetitive and stereotyped patterns of interest or behavior. The diagnosis of Asperger syndrome is increasingly common, and it is timely to review its phenomenology and treatment. RECENT FINDINGS: As there is a growing public awareness and acceptance of Asperger syndrome, clinical research has produced mixed results that do not clearly discriminate Asperger syndrome from high-functioning autism. However, research does indicate that children with pervasive developmental disorder achieve better outcomes when diagnosis is made early and appropriate community supports can be marshaled. SUMMARY: The history and phenomenology of Asperger syndrome is briefly reviewed, and recent literature relating to assessment and treatment is highlighted.     

Nasal dermoid sinus cyst: accidental coincidence or syndrome association?

BACKGROUND: Peters anomaly is a rare congenital glaucoma disease. The Peters' plus syndrome is characterized by distinct malformations. As some of the common craniofacial malformations like cleft lip and palate are frequent in Peters' plus syndrome, no nasal dermoid sinus cysts has been reported so far. Nasal dermoid sinus cysts usually present in isolation, although associations to other anomalies or syndromes are possible. The occurence of such an anomaly may be either accidental, or present a syndrome association. PATIENTS AND METHOD: One patient with an unilateral cleft lip and Peters' plus syndrome had undergone removal of nasal dermoid sinus cyst previously and was referred for management of recurrent disease. Complete surgical removal and plastic reconstruction was performed. RESULTS: Concerning the common (lateral) cleft lip nasal deformity with no midline nasal masses, there are reasons for the assumption that a coincidence of both anomalies might be accidental. Especially in Peters' plus syndrome no occurrence of nasal dermoids has thus far been documented. However, the embryological pathway of the frontonasal region differs from lip and palate development in time and location: So unique formation of both lesions seems inconsistent. Complete surgical removal and plastic reconstruction simultaneously or in a second step are recommended. CONCLUSION: As two cases of arhinia and Peters anomaly have been described in 1978, midline nasal masses might be a possible appearance of Peters' plus syndrome.     

Goldenhar syndrome and neuroblastoma: a chance association?

Oculoauriculovertebral dysplasia, also called Goldenhar syndrome, includes several anomalies: epibulbar dermoids or lipodermoids, microtia, mandibular hypoplasia, vertebral, skeletal, cardiac and kidney anomalies, among others. Tumours have also been observed in patients with oculoauriculovertebral dysplasia. We report the first case of oculoauriculovertebral dysplasia associated with a neuroblastoma. This tumour consists of cells identical to early migratory neural crest cells in the embryo. Several theories have been proposed regarding the pathogenetic explanation of oculoauriculovertebral dysplasia. Currently, some researchers have suggested a deficiency in mesodermal formation or defective interaction between neural crest and mesoderm as a possible aetiology. CONCLUSION: It is suggested that the case reported here is an additional argument for an anomaly in neural crest cell migration or interaction with the mesoderm in the pathogenesis of oculoauriculovertebral dysplasia.