Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

We report on a favourable case of MCAD deficiency (homozygous 985A > G) that presented as lethargy, poor feeding, pulmonary haemorrhage and cardiac arrest without hypoglycaemia. The cessation of intralipid and the commencement of carnitine supplementation were associated with a rapid clinical improvement. CONCLUSION: Mild carnitine depletion and secondary impairment of long-chain fatty acid metabolism may have contributed to post-asphyxial myocardial dysfunction and ventricular arrhythmias. Metabolic disorders must be kept in mind as a differential diagnosis in acutely ill infants, but it must also be emphasized that carnitine therapy is not uniformly effective in all MCAD patients.     

Gynecological exam of the adolescent girl: clinical and methodological approach

The gynaecological approach with the adolescent is always complex, arduous and also stimulating. It is necessary to acquire specific knowledge, to understand that the adolescent is always searching for his identity and that the most important request is that the normality. The first impact is fundamental, understanding the non verbal language, giving importance to the words used during the consultation and imposing a correct anamnesis which must become a type of psychotherapy and must search not for the "defects" but for the "resources" which are available to the patient and on the basis of these build our therapeutic programme. It is essential to understand the menstrual problems which will be so important in the future maturing phase of the adolescent. Finally the instrumental approach must be as little invasive as possible and to be able to understand the adolescentís solitude better it is necessary to create a good relationship with the patient.     

Recomendaciones sobre el diagnóstico y tratamiento de la infección urinaria

Urinary tract infection (UTI) is defined as the growth of microorganisms in a sterile urine culture in a patient with compatible clinical symptoms. The presence of bacteria without any symptoms is known as asymptomatic bacteriuria, and does not require any treatment. In neonates and infants, fever is the guiding sign to suspecting a UTI. Classic urinary tract symptoms become more important in older children. Urine cultures collected before starting antibiotics is always required for diagnosis. Clean-catch (midstream) specimens should be collected for urine culture. In the case of non-toilet-trained children, specimens must be obtained by urinary catheterisation, or suprapubic puncture in neonates and infants. Specimens collected by urine bag should not be used for urine culture. There are no significant differences in the clinical evolution and prognosis between oral versus short intravenous followed by oral antibiotic. Empirical antibiotic therapy should be guided by local susceptibility patterns. Second-generation cephalosporin (children under 6 years) and fosfomycin trometamol (over 6 years), are the empiric therapy recommended in this consensus. In the case of pyelonephritis, recommended antibiotic treatment are third-generation cephalosporins (outpatient care) or, if admission is required, aminoglycosides. Ampicillin should be added in infants less than 3 months old. Antibiotic de-escalation should be always practiced once the result of the urine culture is known.     

Chest Pain in Children and Adolescents: Epigastric Tenderness as a Guide to Reduce Unnecessary Work-Up

Our objective was to evaluate and highlight the significance of epigastric tenderness in children and adolescents with chest pain. In a 26-months period, patients who were referred for pediatri cardiology evaluation at Shiraz University of Medical Sciences with chief complaint of chest pain were studied. Patients with epigastric tenderness were evaluated endoscopically by gastroenterologist. Patients who had positive findings on endoscopy were appropriately treated. Since there were no serious findings on cardiac evaluation, no other treatment was necessary. The patients were re-evaluated 4 weeks later. Response to therapy was defined as relief of the initial symptoms as well as epigastric tenderness. One hundred thirty-two patients were referred for evaluation of chest pain during this period. Epigastric tenderness was found in 44 (33.3%) of these patients and endoscopy was performed. Endoscopy showed positive findings in 41 (93.2%). Thirty (75%) of these patients had varying degrees of gastritis. Duodenitis was found in six (13.6%) and gasteroduodenitis in five (11.4%). Esophagitis, which was always associated with gastritis, was seen in five (11.4%). Only three (6.8%) had normal endoscopy. Urease test was positive in three (7.3%) of the specimens. Two of the patients did not return for follow up. From the remaining 39 patients who received gastroenterology treatment, resolution of symptoms was seen in 38 (97.4%). Careful history and physical examination must guide the assessment of children and adolescents referred for evaluation of chest pain. Epigastric tenderness must be used as a reliable sign to initiate a gastrointestinal evaluation.     

Fulminant hepatitis and glomerulonephritis--a rare presentation of hepatitis A virus infection

Aim: We report a case of fulminant hepatitis and glomerulonephritis by Hepatitis A virus infection. Methods: We observed the patient’s clinical course and analyzed his data retrospectively. Results: The three‐year‐old boy presented with features of acute renal failure and stage 2 hepatic encephalopathy. Renal biopsy showed diffuse mesangioproliferative glomerulonephritis with immunoglobulin M and complement 3 deposition. After receiving supportive treatment for over 6 weeks, the hepatic and renal function became normal. Renal biopsy after 3 months was normal. Conclusion: Acute renal failure is a rare complication of Hepatitis A virus infection. Physicians should be aware of the potential renal involvement of Hepatitis A virus infection as the prognosis is not always favourable.     

Fibrosarcoma in infants and children: a retrospective analysis – overdiagnosis in earlier years

During a 30-year period, 22 patients considered to have a fibrosarcoma (FS) were treated. In a retrospective study the clinicopathologic findings were summarized. With histologic and immunohistochemical re-evaluation, the diagnosis was confirmed in 8 cases. For 6 further patients FS was very probable but specimens were not available. In 8 cases the diagnosis was revised and benign lesions were found in 7. Two patients with irresectable tumors died (infantile FS, FS of mesentery and retroperitoneum). After repeated local recurrences and spread on the affected extremity, an amputation was life-saving in 1 boy. In earlier years many tumors were classified as FSs. Today, immunohistochemistry and molecular-biological methods are valuable tools to clearly identify these tumors. Wide local excision or en-bloc resection without sacrificing any significant function of the part should be the primary form of treatment in infants. Primary re-excision after incomplete excision should have priority over any adjuvant treatment. Preoperative chemotherapy may avoid incomplete resection or mutilation in cases with extended congenital FS. Accepted: 13 July 1998     

Clinical presentation,diagnosis and treatment of vulvovaginitis in girls: a current approach and review of the literature

Background:Vulvovaginitis is the most common cause of gynecological complaints in children and young girls.Some of the factors which cause vulvovaginitis include hypoestrogenism,the anatomical proximity of rectum and delicate vulvar skin and vaginal mucosa.Data sources:We made a literature search with Pubmed,Medline and Cochrane database from January 2002 to May 2015 in English language using the key words vulvovaginitis,children,clinical,diagnosis and treatment.Results:Vulvovaginitis in girls is usually caused by non-specific factors and hygiene measures,bioyoghurt and avoidance of chemical irritants are generally useful.Weight control if necessary and prevention of voiding dysfunction are effective.Vaginal flora is important in girls and results should be interpreted with clinical features to decide whether an isolated microorganism is part of the normal microflora or is the cause of symptomatic vulvovaginitis.Specific treatment is generally considered in case of a detected pathogen microorganism.Isolation of a sexually transmitted organism requires further investigation.Persistent disease may not always indicate a foreign body but it must be taken into account.Girls and parents are encouraged psychologically in all steps of evaluation,diagnosis and treatment.Probiotics,nanotechnology and petroleum jelly are other important treatment options used in vulvovaginitis.Conclusions:In this review,we present current approach to the presentation and management of vulvovaginitis in childhood.This disorder requires a comprehensive evaluation in all steps of diagnosis,differential diagnosis and treatment.     

Lumbar disc herniation in young children

Aim:  This article explores lumbar disc herniation in young children through focusing on matters relevant to patient presentation, physical examination, differential diagnosis, imaging and treatment.
Methods:  Major databases were searched for studies that addressed lumbar disc herniation in young children.
Results:  Diagnosis of lumbar disc herniation in young children is usually delayed because of the rarity and lack of experience with this entity and the difficulty in extracting a reliable medical history. Nevertheless, lumbar disc herniation should be considered in the differential diagnosis of any young child presenting with a chief complaint of back pain and/or radiculopathy, especially in the setting of recent trauma. This should be coupled with a directed physical examination to elicit signs and narrow the differential diagnosis. Imaging studies, mainly magnetic resonance imaging, will help establish a diagnosis; yet radiographs are still required to exclude other spinal lesions. The initial management of lumbar disc herniation in children is the same as that in adults and consists of conservative treatment unless lumbar disc herniation affects the patient's motor and neurological functions in which case, early surgical treatment must be undertaken. Although the latter remains more difficult, current experience suggests a favourable outcome.
Conclusion:  Awareness of lumbar disc herniation will help the paediatrician extract a relevant medical history, perform a directed physical examination, and order appropriate imaging studies. This will aid in initiating early intervention, be it conservative or operative, and achieving a favourable outcome.     

Familial History and Recurrence of Febrile Seizures; a Systematic Review and Meta-Analysis

Objective

Febrile seizure (FS) as the most common form of seizures in childhood, affects 2-5% of all children across the world. The present study reviews available reports on FS recurrence frequency and evaluates its associated risk factors in Iran.

Methods

We searched the Persian database such as: SID, MagIran, Medlip, Irandoc, Iranmedex as well as English databases PubMed, ISI, and Scopus. Random effects models were used to calculate 95% confidence intervals. Meta regression was introduced to explore the heterogeneity between studies.

Findings

The overall FS recurrence rate was 20.9% [95% confidence interval (CI): 12.3-29.5%]. The frequency of FS simple and complex types was 69.3% (95% CI: 59.5-79.0) and 25.3% (95% CI: 19.6-31.0), respectively. A positive familial history of 28.8% (95% CI: 19.3-38.4%) was observed for childhood FS including 36.2% (95% CI: 27.3-39.6%) for the simple and 29.4% (95% CI: 23.1-33.5%) for the complex type. The heterogeneity of recurrent FS was significantly affected by sample size (P=0.026).

Conclusion

Almost one-third of FS children had a positive familial history. The increased risk of recurrence in patients with symptomatic seizures needs to be fully considered by parents, physicians, nurses and health policy makers.     

Actual insights into the clinical management of febrile seizures

Febrile seizures (FS) are a benign epileptic manifestation of infancy occurring between 3 months and 5 years of age and affecting an estimated 2–5 % of children. They have usually no important negative effects on motor and cognitive development. Simple FS (generalized seizures, lasting less than 10 min and single episodes during the same febrile event) have a benign prognosis in almost all cases and do not require an extensive diagnostic workup. In complex FS (focal semiology and lasting more than 10 min, more than one episode during the same febrile event), a more detailed clinical, electroencephalographic, laboratory, and neuroimaging evaluation is necessary because of a higher percentage of underlying detectable causes and a mildly higher risk for later development of epilepsy. Febrile status epilepticus is the most severe type of complex FS even if its morbidity and mortality is extremely low. Simple FS plus (more than one convulsive episode in 24 h) have the same benign prognosis of simple FS. Neither intermittent nor continuous prophylaxis is actually recommended both in simple and complex FS because its side effects outweigh its possible benefits. Conclusion: This review summarizes recent developments into the clinical management of FS including a suggested algorithm for simple and complex FS, the concept of simple FS plus, the controversies about the relationships between FS and hippocampal sclerosis, the relationships between FS and complex syndrome such as Dravet syndrome, genetic epilepsy with FS plus or febrile infection-related epilepsy syndrome, and the results of recent epidemiologic studies on febrile status epilepticus.     

Acute promyelocytic leukemia presenting as Fournier's syndrome in infancy

Fournier's syndrome (FS) is occassionaly encountered in surgical practice. We report a 4-month-old female with acute promyelocytic leukemia (APL) presenting as FS. This case is interesting in two aspects: the early onset of the APL and its presentation as FS, which is the first such case reported in the literature.     

Nitric oxide: a new biomarker of Doxorubicin toxicity in children?

Doxorubicin (DOX) has been used in the treatment of childhood cancers, but its usage is limited because of cardiotoxicity. There are many studies on the role of nitric oxide (NO) in several cardiac diseases. However, to the authors' knowledge, no studies have investigated the plasma levels of total nitrite, a stable product of NO, in children that received DOX. The authors determined plasma total nitrite levels in 29 children who received DOX and investigated the correlations between these and other clinical and laboratory findings. All patients were in remission during the study period. Plasma total nitrite levels and cardiac functions were determined prospectively. The mean cumulative DOX dose was 310.0 ± 90.9 mg/m(2). In echocardiographic evaluation, 3 patients (10.3%) had a pathological value for ejection fraction (EF) and/or fractional shortening (FS), whereas 11 patients (37.9%) had a threshold value. Total nitrite levels were higher in patients than in matched controls (75.24 ± 39.4 vs 43.14 ± 10.58 μmol/L, respectively, P < .001). It was also found to be higher in patients who had a pathological/threshold value of EF and FS than in patients who had a physiological value of EF and FS (92.35 ± 50.36 vs 59.26 ± 13.56 μmol/L, respectively, P = .038). A negative correlation was found between FS and plasma total nitrite level (r = -.42, P = .023). The authors speculate that increased NO may be a sign of subclinical cardiotoxicity of DOX.     

Leitlinie zur Frühgeburt an der Grenze der Lebensfähigkeit des Kindes

These joint recommendations from four medical professional societies (DGGG, DGKJ, DGPM and GNPI) name ethical, legal and medical aspects which should be considered during the consultation with parents-to-be and the decisions for or against life-saving treatment of a child born on the limits of the ability to survive. Consideration of various interests within the legal framework lead to recommendations for a special procedure: 1. For children born before the 22nd week of pregnancy has been completed, an initial resuscitation will basically not be carried out. 2. In the time period between 22 and 23 6/7 weeks of pregnancy it is at present not possible to define a clear limit for treatment according to the length of pregnancy or birth weight. In each individual case the decision must conform to the ethical and legal principles and a consensus must be reached with the parents. 3. After the 24th week of pregnancy attempts to save the life of the child should always be made. In conclusion, it follows from ethical considerations that life-saving measures should principally be undertaken whenever the child has a chance of survival.     

Paediatricians' attitudes to and management of functional seizures in children

Objective

To explore paediatricians' attitudes to and treatment practice for children with functional seizures (FS).

Treatment of hyperinsulinaemic hypoglycaemia with nifedipine

We report on two children with mild persistent hyperinsulinaemic hypoglycaemia. In both, oral nifedipine treatment (0.7 and 2.0 mg/kg per day respectively) had a significant clinical effect. In one case, nifedipine monotherapy prevented hypoglycaemia; in the second case, the dosage and the side-effects of other substances could be reduced, thus circumventing surgical therapy. Conclusion Nifedipine treatment has a favourable effect on the clinical course of patients with mild hyperinsulinism. It represents a valuable new substance for the treatment of this disorder. Received: 3 March 1998 / Accepted: 3 August 1998     

一氧化碳对热性惊厥大鼠γ-氨基丁酸B受体亚基的调节作用

目的：气体信号分子一氧化碳(CO)与γ-氨基丁酸B受体(GABABR)亚基均参与了热性惊厥(FS)发病机制。该研究旨在探讨CO对FS大鼠GABABR亚基表达的影响。方法：32只大鼠随机分为对照组(37.0℃水浴),FS组(45.2℃水浴),FS+锌原卟啉Ⅸ组(45.2℃水浴),FS+血晶素组(45.2℃水浴),每组8只。采用热水浴诱导大鼠FS,隔日诱导1次,共10次。采用双波长分光光度计法测定大鼠血浆中CO含量;用原位杂交观察GABABR亚基mRNA和c-fos基因表达情况;用免疫组化方法观察GABABR亚基和Fos蛋白表达情况。结果：FS+血晶素组CO含量较FS组升高,GABABR1和GABABR2表达也高于FS组。FS+锌原卟啉Ⅸ组CO含量较FS组降低,其GABABR2表达亦低于FS组,而GABABR1表达与FS组相比差异无显著性。血晶素的干预使c-fos基因和Fos蛋白表达降低,而锌原卟啉Ⅸ的干预使其表达增强。结论：CO可通过调节GABABR的功能在反复热性惊厥中发挥作用。     

Febrile Seizures: Four Steps Algorithmic Clinical Approach

Febrile seizures (FS) are the most common form of convulsive phenomena in human being and affect 2% to 14% of children. It is the most common type of seizures that every pediatrician is dealing with. It is the most benign type of all seizures occurring in childhood. There are many debates on how to approach to febrile seizures in pediatric neurology and there are many possible malpractices in this field. Some of the most common frequent queries are

• How could we differentiate FS from seizures and fever associated with serious infections involving the central nervous system?
• When should we refer the affected child for further investigations such as lumbar puncture, EEG, neuroimaging, and routine biochemical studies?
• How should we treat FS in its acute phase?
• How could we assess the risk for further recurrences as well as other risks threatening the child''s health in future?
• How could we select the patients for treatment or prophylaxis?
• Which medication(s) should be selected for treatment or prophylaxis?

Trying to answer the above-mentioned questions, this review article will present a four steps algorithmic clinical approach model to a child with febrile seizures based on the current medical literature.     

Characteristics in the development of symptoms in the in-patient treatment of aggressive behavioural disorders

The symptom development within therapy of 16 juvenile patients is analysed starting from an integrated cognitive therapeutical attempt at changing aggressive behaviour. By means of "event sampling" of aggressive escalations the changes in the frequent occurrence of symptoms on the basis of the starting data of the first therapy phases were compared with data from the last therapy phases, where various change criteria were taken as a basis. In this case the symptom improvement clearly outweighs the deteriorations in each case. A parameter-free cluster analysis of the respective symptom courses allows the hypothesis, that an intensive aggressiveness of longer duration at the beginning promises a more favourable entire development in therapy, to appear justified.