Melanotic neuroectodermal tumor of infancy: clinical, radiological, and pathological features

We present a case of a 4-month-old female infant with a maxillary melanotic neuroectodermal tumor of infancy (MNTI) and review the pooled data from previous publications on this entity. The literature to date comprises 378 reported cases from 1918 to the present, from which data on the presence or absence of metastatic disease was available in 311, and on the presence or absence of local recurrence in 165. These pooled data suggest a local recurrence rate of 36% with metastasis occurring in 7% of cases. At present, the optimal management includes complete surgical excision with clear margins, but there are no reliable histopathological or molecular features to predict the biological behavior in individual cases.     

Carbamyl phosphate synthase deficiency: clinical symptoms, diagnosis and dietary-medicamentous treatment in the neonatal period and infancy

Carbamyl phosphate synthetase (CPS) catalyses the synthesis of carbamyl-phosphate from ammonia and bicarbonate and is the first step in ureagenesis. The infant described in this report suffered from deficiency of this enzyme. The symptoms started on the 2nd day of life with tachycardia, apathy, irritability and metabolic alcalosis, on the 4th day coma and fits occurred due to hyperammonia (ammonia in the blood max 496 mumol/l, normally up to 150 in newborns). In hepatic tissue no activity of carbamyl phosphate synthetase could be measured (normal range 0.66-2.1 mumol/h/mg protein). Peritoneal dialysis was instituted, but the metabolic crisis could only be overcome by the following therapeutic measures: restriction of protein intake to 1.5 g/kg/d in part as a special aminoacid mixture, in part as breast milk; sufficient caloric supply (600-500 kJ/kg/d); sodium benzoate 350 mg/kg/d: arginine 2 mmol/kg/d respectively citrulline 350 mg/kg/d, and carnitine 150 mg/kg/d. By these procedures the exogenous and endogenous load of ammonia could be minimized. Electroencephalogram and mental development were normal. Acute metabolic crises with hyperammonia during catabolic states (infections) could be treated several times. At the age of 8 months, however, the patient died during such a crisis. This case shows that it is possible to achieve a normal psychomotor development in complete CPS-deficiency by adequate therapy. Catabolic states are difficult to manage.     

儿童反复咯血的病因及临床诊治分析

目的 分析儿童反复咯血的病因、临床特点、治疗方法及预后,以提高儿科医师对小儿反复咯血的病因诊断及治疗水平。方法 收集1996 年1 月至2013 年2 月39 例反复咯血患儿的临床、实验室及影像学资料,对其起病年龄、病因、咯血量、影像学改变、治疗方法及随访转归等进行回顾性分析。结果 39 例反复咯血患儿中,特发性肺含铁血黄素沉着症16 例（41%）,肺血管畸形8 例（21%）,肺动静脉瘘7 例（18%）,支气管扩张症3 例（8%）,肺结核和肺囊性纤维化各2 例（5%）,肺肿瘤1 例（3%）。肺部增强CT 扫描和肺动脉-支气管动脉造影发现35 例患儿肺部有不同程度的影像学改变。反复咯血患儿以Ⅰ度（51%）和Ⅱ度（28%）咯血为主,Ⅲ度（21%）咯血少见。39 例患儿根据不同病因经相应的治疗后咯血均得到有效控制,随访0.5~5 年,除3 例特发性肺含铁血黄素沉着症患儿失访外,其余患儿均未再次发生咯血。结论 反复咯血患儿的病因以特发性肺含铁血黄素沉着症为主,肺部增强CT 扫描和肺动脉-支气管动脉造影检查是诊断反复咯血患儿病因的重要方法,应根据患儿不同的病因选择不同的治疗方法。     

新生儿心房扑动一例

患儿女 ,第 1胎第 1产 ,孕 37+ 周 ,因母亲产前检查发现胎儿心动过速 (190～ 2 0 0次 /min) ,考虑胎儿宫内窘迫行急诊剖宫产娩出。羊水清 ,Apgar评分 1min 9分 ,5min 10分。出生体重 3kg ,生后吃奶可 ,哭声响 ,无明显烦躁 ,无气促、青紫 ,无呕吐。其母孕前半年曾患成人型麻疹 ,孕期体健 ,无服药史 ,无X射线接触史 ,无家族遗传病史。体检 :反应好 ,口唇红润 ,心音中等 ,心率 180～ 2 0 0次 /min ,律齐 ,无杂音。腹平软 ,肝脾无肿大 ,全身无水肿 ,肌张力适中 ,原始反射存在。实验室检查 :脐带血Hb 178g/L ,K+ 5 4mmol/L ,Na+ 137mmol/L ,…     

Etiology and clinical features of viral bronchiolitis in infancy

Background:Bronchiolitis is a common lower respiratory tract infection in infancy.The aim of this review is to present the clinical profile of viral bronchiolitis,the different culprit viruses and the disease severity in relation to the viral etiology.Data sources:Databases including PubMed and Google Scholar were searched for articles about the clinical features of bronchiolitis and its viral etiology.The most relevant articles to the scope of this review were analyzed.Results:Currently there are two main definitions for bronchiolitis which are not identical,the European definition and the American one.The most common viral pathogen that causes bronchiolitis is respiratory syncytiai virus which was identified in 1955;now many other viruses have been implicated in the etiology of bronchiolitis such as rhinovirus,adenovirus,metapneumovirus,and bocavirus.Several studies have attempted to investigate the correlation of bronchiolitis severity with the type of detected virus or viruses.However,the results were not consitent.Conclusions:For the time being,the diagnosis of bronchiolitis remains clinical.The isolation of the responsible respiratory pathogens does not seem to confer to the prognosis of the disease severity.     

Sarcoidosis in children. Epidemiology in Danes, clinical features, diagnosis, treatment and prognosis

This paper reviews current knowledge of childhood sarcoidosis with regard to the epidemiology in Danes, clinical presentation, diagnostic procedures, treatment and prognosis. Sarcoidosis is a granulomatous disease of unknown aetiology, with multiorgan involvement. The diagnosis is confirmed by the demonstration of epitheloid cell granulomas in tissue biopsy specimens. During the period 1980-92, three cases of childhood sarcoidosis were recorded in Copenhagen County, which has a total population of 610,000. The approximate incidence of clinically recognized sarcoidosis in Danish children younger than 15 y of age was 0.22-0.27/100,000 children per year, corresponding to approximately three new cases in Denmark each year. The true incidence is unknown, since the disease is often asymptomatic and resolves without a clinical diagnosis being made. In children younger than 5y of age, the disease is characterized by involvement of skin, eyes and joints, whereas in older children involvement of lungs, lymph nodes and eyes predominate. The mainstay of treatment consists of oral corticosteroids. The risk/benefit ratio of using long-term corticosteroids needs to be evaluated in each individual patient. Some patients may benefit from additional therapy with methotrexate. The long-term prognosis is not well established, but it seems to be poorer in children younger than 5 y. Older children appear to have as favourable a prognosis as young adults.     

Idiopathic arterial calcification in infancy,pathology, diagnosis and treatment modalities

Idiopathic Arterial Calcification Infancy is a well-documented rare entity that usually occurs within the first few months of life. Use of CT as a primary investigative modality in the diagnosis of IACI has not been frequently reported. In our case, using CT scan, arterial calcification in the chest and abdomen was demonstrated and the diagnosis was made easily. Causes of death, imaging and treatment modalities were reviewed from literature.     

Atrial septal aneurysm in infancy

Summary Thirteen infants were found to have atrial septal aneurysms (ASAs) on twodimensional (2D) echocardiography and their characteristics and natural course have been studied by 2D Doppler echocardiography.Atrial septal aneurysm was accompanied by atrial septal defect (ASD) or other cardiac malformations in 12 of 13 patients, and as an isolated anomaly in one patient. Spontaneous closure of ASD by aneurysmal formation of the interatrial septum was observed in 10 patients. The aneurysms of all 13 patients showed a moderate reduction in size, 14 to 25 months (mean 18 months), after these aneurysms has been first diagnosed and 10 subsequently disappeared.It is likely that ASA occurring in infancy will develop in patients with spontaneous closure of an ASD, and that such an aneurysm has a tendency to regress as the patients grows up.     

Ocular features in mucopolysaccharidosis: diagnosis and treatment

Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) in different parts of the eye. Ocular problems are very common in MPS children, and the cornea, sclera, trabecular meshwork, retina, and optic nerve may all be involved. Early diagnosis is very important to preserve the visual function, and the diagnosis requires experience and different evaluations. Follow-up is mandatory to allow a correct pathway to consequent therapy. This article aims to provide a review of ocular alterations and treatment options in MPS. The ophthalmologist is sometimes the first physician who can suspect a metabolic disease and can help to make the correct diagnosis. It is important to stimulate awareness of MPS among ophthalmologists.     

Inborn errors of metabolism: the clinical diagnosis in early infancy

Major advances occurring in recent years in the recognition and treatment of inborn errors of metabolism have made it more essential than ever that the physician be familiar with the clinical presentation of these disorders. Although infants with inborn errors of metabolism will continue to be best cared for in centers with expertise in the treatment of inherited metabolic disease, the initial recognition of these disorders remains the responsibility of the practicing physician. A clinical approach to the diagnosis of inborn errors of metabolism in the young infant is presented as well as suggestions for the use of readily available laboratory studies that can serve to identify these infants who will benefit from further evaluation and treatment.     

Autism spectrum disorders: clinical features and diagnosis

The last decade has seen an increase of interest in autism spectrum disorders (ASD). With the prevalence now approaching 1%, children with ASD are usually first evaluated by clinicians working in primary care, such as pediatricians and family practitioners. Although classic autism is easy to recognize, differentiating autism from other spectrum disorders and comorbid conditions is not always simple.     

Benign paroxysmal migraine variants of infancy and childhood: Transitions and clinical features

Introduction

Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM).