Idiopathic nephrotic syndrome: a clinical approach

Children with new-onset nephrotic syndrome invariably present to general paediatrics in the first instance. Many with known nephrotic syndrome under the care of a paediatric nephrologist will present to local services with complex relapses. Using a case-based approach, this review aims to equip the general paediatrician with the skills: to assess and manage a child with a new presentation of nephrotic syndrome, to identify the complications associated with the nephrotic state, to choose the most appropriate steroid regimen and to identify those patients who should be referred to a paediatric nephrologist. We focus on the management of steroid-sensitive nephrotic syndrome (SSNS), the most common diagnosis in children presenting with nephrotic syndrome. We also discuss aspects of management of nephrotic syndrome relevant to the COVID-19 pandemic. Additionally, by the end of the article, the reader should have a basic understanding of the underlying pathophysiology of nephrotic syndrome and its resultant complications.     

Duration of fever prior to onset of a simple febrile seizure: a predictor of significant illness and neurologic course

This study tested the hypothesis that the duration of fever prior to the onset of a simple febrile seizure may be an important clinical variable with respect to patient outcome. The duration of fever prior to seizure according to patient history was defined as either long (greater than or equal to 24 hours) or short (less than 24 hours). We hypothesized that simple febrile seizures which occur with a history of a fever of long duration (LDF) are more likely to be associated with a significant illness at presentation or a subsequent neurologically abnormal course than are simple febrile seizures which occur with a history of a fever or short duration (SDF). Of 100 cases which met study criteria for simple febrile seizures, nine had a LDF and 91 had a SDF prior to the development of a seizure. No statistical differences in age, sex, maximum fever recorded in the emergency department, duration of seizure, WBC, or electrolytes were found between patients with SDF and LDF (P less than 0.01). Of the nine patients with a LDF, all had either a significant illness at the time of initial visit or a subsequent neurologically abnormal course. Of the 91 patients with a SDF, 88 had a good outcome, while two had a significant illness at the time of visit, and one had a subsequent neurologically abnormal course. These results suggest that children with a history of LDF prior to the occurrence of a simple febrile seizure are more likely to have a serious illness at presentation or a subsequent neurologically abnormal course than are children with seizures which occur with a history of SDF.     

The Influence of a Restrictive Atrial Septal Defect on Pulmonary Vascular Morphology in Patients with Hypoplastic Left Heart Syndrome

Hypoplastic left heart syndrome (HLHS) with a restrictive atrial septal defect (ASD) is a form of congenital heart disease with considerable morbidity and mortality. This morphologic analysis assesses the pulmonary vasculature in this patient population. Pulmonary arteries, the persistence of high-resistance fetal arterioles, pulmonary veins, and lymphatics from multiple lung sections from each of five patients with HLHS and a restrictive ASD were compared to those of five patients with HLHS and nonrestrictive ASD. Lung sections from each patient were qualitatively graded in severity of pathology from 0 to 3 for each of the structures described previously, with the pathologist blinded to the status of the ASD. Patients with a restrictive ASD exhibited more significant pulmonary venous thickening and lymphatic dilatation (p = 0.02), with a tendency toward persistence of high-resistance fetal vessels (p = 0.2), compared to patients with a nonrestrictive ASD. These findings imply that patients with HLHS and a restrictive ASD possess pulmonary vascular abnormalities that place them at higher risk for the current surgical interventions available compared to patients with a nonrestrictive ASD.     

Acute Coronary Syndrome as a First Presentation of Systemic Lupus Erythematosus in a Teenager: Revascularization by Hybrid Coronary Artery Bypass Graft Surgery and Percutaneous Coronary Intervention: Case Report

Patients with systemic lupus erythematosus (SLE) may present with acute coronary syndrome (ACS) due to coronary vasculitis or premature atherosclerosis. There is a paucity of data on invasive management strategies for young adults who present with an ACS secondary to active vasculitis. This article describes the case of a teenager who presented with an ACS secondary to lupus vasculitis as his first presentation of active SLE. Coronary angiography showed a left main equivalent lesion involving a proximal very large left anterior descending artery (LAD) and diagonal stenosis (with a diminutive left circumflex artery). The boy underwent a successful endoscopic coronary bypass surgery to his LAD followed by percutaneous coronary intervention to his diagonal artery. This case demonstrates the feasibility and safety of a hybrid coronary revascularization in a teenager with acute coronary syndrome due to coronary vasculitis.     

Embryonal risks in gestational diabetes mellitus

Diabetes mellitus is generally associated with a higher incidence of early pregnancy loss and congenital anomalies, though this relationship should be strictly restricted to patients with previously existing diabetes. In gestational diabetes mellitus, which often develops during the third trimester, no such relationship should exist, though the birth of a previous infant with a congenital anomaly is often assumed to be a risk factor for gestational diabetes. OBJECTIVE: The study attempts to analyse the congenital anomaly rate in women with gestational diabetes and compare this to the rates in women known to have normal glucose tolerance. RESULTS: The prevalence of infants/fetuses with congenital anomalies born to women with gestational diabetes amounted to 4.48%, a rate similar to that recorded in women with normal glucose tolerance (4.54%). CONCLUSIONS: The development of gestational diabetes, in contrast to pre-existing diabetes, does not appear to be associated with an increased risk for teratogenesis.     

Neonatal antinuclear antibodies and the lupus syndrome

Neonatal lupus syndrome can be considered as being associated with pregnancy in women with lupus. Two antinomic cases are reported: a pregnancy in a woman presenting with Sj?gren's syndrome, bearing a child with neonatal lupus syndrome (atrioventricular block and antinuclear antibodies) and a pregnancy in a woman presenting with lupus and giving birth to a normal child with antinuclear antibodies. These 2 case reports allow us to speculate on the pathophysiology of neonatal lupus syndromes in which the type of antinuclear antibodies seems to play a major role.     

The child with a non-blanching rash: how likely is meningococcal disease?

AIMS: To examine a number of simple clinical features and investigations in children with a non-blanching rash to see which predict meningococcal infection. METHODS: A total of 233 infants and children up to 15 years of age presenting with a non-blanching rash were studied over a period of 12 months. Clinical features and laboratory investigations were recorded at presentation. The ability of each to predict meningococcal infection was examined. RESULTS: Eleven per cent had proven meningococcal infection. Children with meningococcal infection were more likely to be ill, pyrexial (>38.5 degrees C), have purpura, and a capillary refill time of more than two seconds than non-meningococcal children. Five children with meningococcal disease had an axillary temperature below 37.5 degrees C. No child with a rash confined to the distribution of the superior vena cava had meningococcal infection. Investigations were less helpful, although children with meningococcal infection were more likely to have an abnormal neutrophil count and a prolonged international normalised ratio. No child with a C reactive protein of less than 6 mg/l had meningococcal infection. CONCLUSIONS: Most children with meningococcal infection are ill, have a purpuric rash, a fever, and delayed capillary refill. They should be admitted to hospital and treated without delay. Children with a non-blanching rash confined to the distribution of the superior vena cava are very unlikely to have meningococcal infection. Measurement of C reactive protein may be helpful-no child with a normal value had meningococcal infection. Lack of fever at the time of assessment does not exclude meningococcal disease.     

Pediatric split liver transplantation after Fontan procedure in left isomerism combined with biliary atresia: A case report

LI is a subset of the heterotaxy syndrome and a rare birth defect that involves the heart and other organs. It can be combined with extracardiac abnormalities, especially BA. CHD can be associated with LI in up to 15% of cases, although it is rare in BA. Pediatric LT for a child with ESLD due to BA combined with LI and CHD is a challenging issue for a transplant surgeon. Herein, we report a successful split LT on a three‐yr‐old boy with LI who survived after a Fontan procedure due to single ventricle, but who suffered from HPS associated with BA.     

Treatment of third ventricular choroid plexus papilloma in an infant with embolization alone

The authors present the case of a 3-month-old boy with a third ventricular tumor consistent with a choroid plexus papilloma. This child presented with macrocephaly, irritability, inability to roll over, and vomiting. He was found to have an enlarged head circumference, a full and tense fontanel, splayed sutures, and forced downward gaze. Imaging revealed severe ventriculomegaly and a brightly enhancing third ventricular lesion consistent with papilloma. Treatment planning included placement of a ventriculoperitoneal shunt to treat hydrocephalus and to allow the child to grow prior to resection. Due to the vascular nature of these tumors and the age of this child, the tumor was embolized with a plan for eventual resection; however, embolization resulted in involution and total regression of the tumor. There is no residual disease at last follow-up of 16 months. In this specific scenario of a choroid plexus papilloma in an infant, when operative intervention may be technically difficult and associated with significant morbidity, embolization with close observation may be a valid treatment option. If used, the patient would need to be closely followed for evidence of residual or recurrent disease, which would require operative intervention.     

Perforation during attempted intussusception reduction in children —a comparison of perforation with barium and air

This paper compares the effects on patients of perforation with barium and with air during attempted intussusception reduction by reviewing the clinical, radiological, surgical and pathological findings and sequelae in seven children who received barium and seven who received air. In both groups perforation occurred in infants under 6 months of age (with one exception) with a long duration of symptoms. All patients with barium enema required resection of bowel whereas only four with air enema required resection. Anesthetic times were longer in those patients with barium perforation in whom the intussusception did not move and there was a large leak. The patients with perforation due to air had a shorter hospital stay with decreased morbidity compared to those with perforation due to barium. Perforation occurred through areas of transmural necrosis in a minority of patients in each group. Perforations through normal bowel and shear injury (with air enema) indicate that increased pressure during the examination is an important factor in some patients. Because perforation with air is so much easier to deal with surgically and the children do better clinically, there is a tendency for some to consider perforation with air an inconsequential situation. However, a potential rare complication with this technique is tension pneumoperitoneum. Keeping this in mind, we continue to use air as the contrast of choice because the procedure in our hands is a safe, quicker and easier technique and we have achieved a substantial improvement in reduction rates. Overall reported perforation rates with air enema compare favourably with those due to barium enema.     

Joint pain in children

Joint pain is a common complaint in children and occasionally – although rarely – a symptom of serious disease. It can affect up to 20% of children at any one time. We have attempted to present important points in the history, examination and investigation to help the clinician dealing with a child presenting with non-traumatic joint pain to distinguish those at risk of serious pathology from those children with a benign cause. We also present a management plan in the form of a flow chart for the children who present to the emergency department with a painful joint.     

History of convulsions and use of pertussis vaccine

Data on 2062 reports from the Monitoring System for Adverse Events Following Immunization, Centers for Disease Control (CDC), were analyzed to compare the risk of a personal or family history of convulsions in children who had a neurologic adverse event after receipt of diphtheria-tetanus-pertussis (DTP) vaccine with those who had a nonneurologic adverse event. Children with a neurologic event after DTP vaccine had a 7.2 times higher risk for personal history of convulsions (95% confidence limits 4.5 to 11.5) and a 4.5 times higher risk for family history of convulsions (95% confidence limits 3.1 to 6.7) than did children with an adverse event that did not affect the nervous system. Children with either a febrile or nonfebrile convulsion after receipt of DTP were significantly more likely to have a personal history of convulsions than children with a nonneurologic adverse event (P less than 0.0001). Children with a febrile convulsion after receipt of DTP but not children with nonfebrile convulsions were significantly more likely to have a family history of convulsions than those with a nonneurologic adverse event. It is recommended that pertussis vaccination be deferred in children with a personal history of a convulsion until it can be determined that an evolving neurologic disorder is not present. If such disorders are found, these children should be given the combined pediatric diphtheria and tetanus toxoids (DT) vaccine to complete the series.     

Unusual case of 'trapped fourth ventricle' in a child with posthemorrhagic hydrocephalus--lessons learnt

In most of the children with posthemorrhagic hydrocephalus (PHH), multidisciplinary follow-up is performed, with the focus on consequences of prematurity, cerebral palsy (CP) and hydrocephalus. A large fourth ventricle is common in these children but imaging performed in order to document ventricles and tissue damage is not oriented to exclude coexisting rare pathologies. We report a 3-year-old child with spastic CP, secondary to prematurity and PHH. A ventriculoperitoneal shunt was inserted at the age of 2 months. On follow-up imaging the child demonstrated well-drained supratentorial ventricles with a persistent large fourth ventricle. Because of a neurological change in spasticity and new-onset torticollis, a repeat MRI was performed, suggesting a cystic, nonenhancing lesion of the fourth ventricle. The surgical exploration revealed a large dermoid of the fourth ventricle. We analyze the differential diagnosis of a clinically significant large fourth ventricle in a shunted child with PHH and CP. This includes conditions without pressure in the posterior fossa such as tissue loss due to cerebellar atrophy, or pathologies causing a true increase in pressure of the fourth ventricle (isolated fourth ventricle, cystic lesions and neoplasms of the fourth ventricle). Neurologically compromised children pose additional challenges in reaching a definitive diagnosis and hence require a careful regular assessment of their clinical status with additional well-timed imaging with appropriate protocols to allow appropriate treatment when indicated and to avoid morbidity due to delayed diagnosis. We present a rare coexistence of a dermoid tumor within the fourth ventricle in a CP child with PHH and express the dilemmas associated with its management.     

Multicystic dysplasia in one-half of a horseshoe kidney with megaureter and lower ureteric atresia

During evaluation of chronic abdominal pain, a 9-year-old male was found to have a horseshoe kidney (HSK) with multicystic dysplasia (MCD) of the left-sided component. Attached to the MCD was a very large, tortuous ureter occupying almost the whole left side of the abdomen. This ureter on dissection was found to end blindly adjacent to the bladder. MCD of one-half of a HSK is an unusual lesion. Its association with a large megaureter with juxtavesical atresia is a unique event. In HSKs, controversy exists about the need to remove a small dysplastic segment. If this segment is associated with a large ureter, as in our case, removal is mandatory in order to avoid pain and infection.     

Conversational behaviour of children with Asperger syndrome and conduct disorder

BACKGROUND: Social communication problems in individuals who have Asperger syndrome constitute one of the most significant problems in the syndrome. This study makes a systematic analysis of the difficulties demonstrated with the use of language (pragmatics) in adolescents who have Asperger syndrome. METHOD: Recent advances in discourse analysis were applied to conversational samples from a group of children with Asperger syndrome and a matched control group of children with severe conduct disorder. Two types of conversation were sampled from each group, differing in emotional content. RESULTS: The results showed that in these contexts children with Asperger syndrome were no more verbose as a group than controls, though they showed a tendency to talk more in more emotion-based conversations. Children with Asperger syndrome, as a group, performed similarly to control subjects in ability to respond to questions and comments. However, they were more likely to show responses which were problematic in both types of conversation. In addition, individuals with Asperger syndrome showed more problems in general conversation than during more emotionally and socially loaded topics. The group with Asperger syndrome was found to contain a small number of individuals with extreme verbosity but this was not a reliable characteristic of the group as a whole.     

The effect of patient reassignment on future continuity in a pediatric resident continuity practice.

BACKGROUND: When residents complete their pediatric training, patients from their continuity practices in academic settings must be reassigned to either a known resident of their selection or an unknown, incoming intern. OBJECTIVES: To determine what antecedent factors were associated with patient reassignment to a known resident of their selection, whether such reassignment was associated with increased health care use, and what factors were associated with continuity with the new resident provider. DESIGN: Nonconcurrent cohort study. SETTING: Hospital-based resident continuity clinic practice. PARTICIPANTS: Patients of residents graduating in June 1993. RESULTS: Seven hundred fifty-eight patients of 18 graduating residents required reassignment: 86 patients (11%) were assigned to a resident colleague, defined as the study group. From the remaining 673 patients who were assigned to unknown, incoming interns, a control group was randomly selected (n = 160), with approximately 2 patients for each study group subject. Looking at antecedent factors, study group patients were more likely to have chronic medical problems and to have seen their graduating resident more often and more recently. Univariate analysis explored the consequent factors of health care use and found that study group patients were more likely to return for a visit and to make more visits with the new provider. Multiple logistic regression analysis demonstrated that being in the study group, younger age at the original encounter with the graduating resident, and a shorter interval since the last visit with the graduating resident were all associated with increased continuity with the new resident. CONCLUSIONS: The method of patient reassignment at a continuity clinic was associated with chronic disease of the patient and regularity of visits with the graduating resident. Increased continuity with a new resident, as determined by multivariate analysis, was associated with the method of reassignment, a younger age at first encounter with the graduating resident, and a shorter interval since the last visit with the graduating resident. This study has implications at ambulatory sites where transitions occur.     

Acquired X-chromosome aneuploidy in children with acute lymphoblastic leukemia

BACKGROUND: A cytogenetic study of 75 consecutive children with ALL revealed a normal karyotype, a low hyperdiploid karyotype (including 47-50 chromosomes), and a high hyperdiploid karyotype (including > 50 chromosomes) in 10, 12, and 33 patients, respectively. An acquired extra X-chromosome was detected at diagnosis by conventional cytogenetics in 29 (88%) of 33 children with a high hyperdiploid karyotype and in 4 (33%) of 12 children with a low hyperdiploid karyotype. X-chromosome aneuploidy was retrospectively studied by fluorescence in situ hybridization (FISH) in eight and 20 patients with a normal and a hyperdiploid karyotype, respectively. PROCEDURE: A classical cytogenetic study was performed according to standard methods. FISH with the centromeric probe specific to X-chromosome was used to study interphase cells of bone marrow or blood samples. RESULTS: An extra X-chromosome was found by FISH in all 13 patients with a high hyperdiploid or tetraploid, in 6 of 7 patients with a low hyperdiploid, and in none with a normal karyotype. Two children with a normal karyotype displayed monosomy X. Altogether, 57.3% of newly diagnosed children displayed X-chromosome aneuploidy. CONCLUSIONS: Out study indicates that X-chromosome aneuploidy may be the most common chromosome abnormality in childhood ALL. It can be detected in nearly all children with a high hyperdiploid karyotype and up to one-half of the patients with a low hyperdiploid karyotype. FISH with an X-chromosome centromeric probe is a rapid and simple tool to detect an abnormal clone at diagnosis in the majority of children with ALL and is useful in confirming remission in these patients.     

Egg hypersensitivity and measles-mumps-rubella vaccine administration

Because reports have described egg-sensitive individuals in whom anaphylaxis developed after measles vaccination, current recommendations include delaying administration of egg-derived vaccines until skin testing can be performed. Specifically, the 1988 Red Book recommends skin testing via scratch, prick, or puncture with 1:10 dilution of the vaccine and, if the result is negative, intradermal testing is suggested. The purpose of this study was to evaluate the likelihood of reaction to measles-mumps-rubella (MMR) vaccine in patients with documented egg sensitivity and to delineate the efficacy of skin-prick testing (SPT) to MMR as a predictor of hypersensitivity to the vaccine. Egg sensitivity was documented by initial SPT to egg and then, if possible, double-blind placebo-controlled food challenge (DBPCFC). Patients with a positive DBPCFC to egg or a history of anaphylactic egg sensitivity had a SPT with the MMR vaccine and then were given the MMR vaccine. Additionally, children with atopic dermatitis who had been previously proven egg sensitive via DBPCFCs were evaluated retrospectively for sensitivity to the MMR vaccine. Sixteen children with a history of egg sensitivity underwent SPT to egg, with a positive result 3 mm greater than the negative control found in 12 patients. Eight of these children had a positive DBPCFC to egg. The SPT to MMR vaccine was negative in all 16 children; vaccine administration followed with no resultant systemic problems. Three children had a local reaction at the site of injection. Twelve additional children with atopic dermatitis and egg sensitivity were reviewed. Each child had a positive SPT and DBPCFC to egg.(ABSTRACT TRUNCATED AT 250 WORDS)     

Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach

Two patients with incomplete pentalogy of Cantrell are described. The first was a girl with a large omphalocele with evisceration of the heart, liver and intestines with an intact sternum. Echocardiography showed profound intracardiac defects. The girl died 33 h after birth. The second patient was a female fetus with ectopia cordis (EC) without intracardiac anomalies; a large omphalocele with evisceration of the heart, stomach, spleen and liver; a hypoplastic sternum and rib cage; and a scoliosis. The pregnancy was terminated. A review of patients described in the literature is presented with the intention of finding prognostic factors for an optimal approach to patients with the pentalogy of Cantrell. In conclusion the prognosis seems to be poorer in patients with the complete form of pentalogy of Cantrell, EC, and patients with associated anomalies. Intracardial defects do not seem to be a prognostic factor. Statement of financial support: no financial assistance was received.     

Multiple cardiac arrhythmias in a previously healthy child: a case of accidental digitalis intoxication?

We present a case of multiple arrhythmias in a 3-year-old child who was presented to the emergency department with emesis. Initial vital signs were significant for a heart rate from 40 to 60 beats per minute with stable blood pressure. An electrocardiogram showed complete atrioventricular block with a junctional escape rhythm of 40 to 55 bpm that subsequently progressed to atrial flutter/fibrillation and then to a junctional escape rhythm. She was given intravenous atropine, resulting in acceleration of the junctional rhythm. Sinus rhythm resumed with a prolonged PR interval a few hours later with normalization of the electrocardiogram the following day. Routine laboratory tests, toxicology screens, and tests for other cardiac medications in the home were negative. However, at 20 hours after presentation, her digoxin level was 2.9 ng/mL. Parents denied that the child had access to any digoxin-containing substances. This case illustrates that digoxin toxicity can manifest with multiple arrhythmias and that recognition of this can be very difficult, especially when there is no witness to ingestion. Clinicians should be suspicious for digoxin toxicity when a child presents with persistent emesis, altered level of consciousness, and bradyarrhythmias with or without hemodynamic instability.