Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

We report a baby with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency who presented on day 2 with poor feeding and lethargy. She was floppy with hypoglycaemia (1.8 mmol/l) and hyperammonaemia (182 µmol/l). Despite correction of these and a continuous intravenous infusion of glucose at 4.5-6.2 mg/kg/min, she developed generalised tonic clonic seizures on day 3. She also suffered two episodes of pulseless ventricular tachycardia, from which she was resuscitated successfully. Unfortunately, she died on day 5, following a third episode of pulseless ventricular tachycardia. Arrhythmias are generally thought to be rarer in MCAD deficiency than in disorders of long-chain fatty acid oxidation. This is, however, the sixth report of ventricular tachyarrhythmias in MCAD deficiency. Five of these involved neonates and it may be that patients with MCAD deficiency are particularly prone to ventricular arrhythmias in the newborn period. Three of the patients (including ours) had normal blood glucose concentrations at the time of the arrhythmias and had been receiving intravenous glucose for many hours. These cases suggest that arrhythmias can be induced by medium-chain acylcarnitines or other metabolites accumulating in MCAD deficiency. Ventricular tachyarrhythmias can occur in MCAD deficiency, especially in neonates.

High prevalence of primary ciliary dyskinesia in a British Asian population.

Determining the prevalence of primary ciliary dyskinesia (PCD) in different populations has proved difficult, with estimates varying between one in 4000 to one in 40,000. The aim of this study was to determine the incidence of PCD in a well-defined highly consanguineous Asian population in the UK. Over a 15-year period all patients suspected of having PCD in the Asian population of Bradford, UK, were tested by measurement of ciliary beat pattern, frequency and electron microscopy. The prevalence of PCD in the population studied was one in 2265. 52% of the patients' parents were first cousins. All patients had a history of chronic cough and nasal symptoms from the first year of life. 73% had a history of neonatal respiratory distress. Clinical suspicion of PCD should be high in populations in which it is possible that high levels of consanguinity may result in an increase in those with PCD. In these communities the combination of chronic cough and nasal symptoms should prompt early diagnostic testing.

School age outcome of hospitalisation with respiratory syncytial virus infection of prematurely born infants.

BACKGROUND: Hospitalisation due to respiratory syncytial virus (RSV) infection in the first 2 years after birth has been associated with increased healthcare utilisation and associated costs up to 5 years of age in children born prematurely at less than 32 weeks of gestation who developed bronchopulmonary dysplasia (BPD). A study was undertaken to determine whether hospitalisation due to RSV infection in the first 2 years was associated with increased morbidity and lung function abnormalities in such children at school age, and if any effects were influenced by age. METHODS: Healthcare utilisation and cost of care in years 5-7 were reviewed in 147 children and changes in healthcare utilisation between 0 and 8 years were assessed also using results from two previous studies. At age 8-10 years, 77 children had their lung function assessed and bronchial hyper-responsiveness determined. RESULTS: Children hospitalised with RSV infection (n = 25) in the first 2 years had a greater cost of care related to outpatient attendance than those with a non-respiratory or no admission (n = 72) when aged 5-7 years (p = 0.008). At 8-10 years of age, children hospitalised with RSV infection (n = 14) had lower forced expiratory volume in 0.75 s (FEV(0.75)) (p = 0.015), FEV(0.75)/forced vital capacity (p = 0.027) and flows at 50% (p = 0.034) and 75% (p = 0.006) of vital capacity than children hospitalised for non-RSV causes (n = 63). Healthcare utilisation decreased with increasing age regardless of RSV hospitalisation status. CONCLUSIONS: In prematurely born children who had BPD, hospitalisation due to RSV infection in the first 2 years is associated with reduced airway calibre at school age.

Preschool healthcare utilisation related to home oxygen status.

OBJECTIVE: To determine, in prematurely born children who had bronchopulmonary dysplasia (BPD), if respiratory morbidity, healthcare utilisation, and cost of care during the preschool years were influenced by use of supplementary oxygen at home after discharge from the neonatal intensive care unit. DESIGN: Observational study. SETTING: Four tertiary neonatal intensive care units. PATIENTS: 190 children, median gestational age 27 weeks (range 22-31), 70 of whom received supplementary oxygen when discharged home. INTERVENTIONS: Review of hospital and general practitioner records together with a parent completed respiratory questionnaire. MAIN OUTCOME MEASURES: Healthcare utilisation, cost of care, cough, wheeze, and use of an inhaler. RESULTS: Seventy children had supplementary oxygen at home (home oxygen group), but only one had a continuous requirement for home oxygen beyond 2 years of age. There were no significant differences in the gestational age or birth weight of the home oxygen group compared with the rest of the cohort. However, between 2 and 4 years of age inclusive, the home oxygen group had more outpatient attendances (p = 0.0021) and specialist attendances (p = 0.0023), and, for respiratory problems, required more prescriptions (p<0.0001). Their total cost of care was higher (p<0.0001). In addition, more of the home oxygen group wheezed more than once a week (p = 0.0486) and were more likely to use an inhaler (p<0.0001). CONCLUSIONS: Children with BPD who have supplementary oxygen at home after discharge have increased respiratory morbidity and healthcare utilisation in the preschool years.

Health care utilisation of prematurely born, preschool children related to hospitalisation for RSV infection.

BACKGROUND: In prematurely born infants with chronic lung disease (CLD), RSV hospitalisation is associated with increased health service utilisation and costs in the first two years after birth. AIMS: To determine whether RSV hospitalisation in the first two years was associated with chronic respiratory morbidity during the preschool years in prematurely born children who had had CLD. METHODS: Retrospective review of readmissions, outpatient attendances, and community care in years 2-4 and, at age 5 years, assessment of the children's respiratory status and their health related quality of life. Comparison was made of the results of children who had had at least one hospitalisation in the first two years after birth for RSV infection (RSV group) to those of the rest of the cohort. Participants were 190 of an original cohort of 235 infants with CLD and a median gestational age 27 (range 22-33) weeks. RESULTS: The 33 children in the RSV group, compared to the rest of the cohort, had a greater duration of hospital stay and more outpatient appointments. The RSV group had required more prescriptions for all treatments and respiratory medications, and more had used an inhaler. The cost of care of the RSV group was higher (median 2630 pounds sterling [4000 Euros, US4800 dollars], range 124-18,091 pounds sterling versus 1360 pounds sterling [2500 Euros, US3000 dollars], range 5-18 929 pounds sterling ) and their health related quality of life was lower. CONCLUSION: In prematurely born children who had developed CLD, RSV hospitalisation in the first two years was associated with chronic respiratory morbidity and increased cost of care.

Home oxygen status and rehospitalisation and primary care requirements of infants with chronic lung disease.

OBJECTIVES: To determine whether the rehospitalisation and primary care requirements of infants with chronic lung disease (CLD) during the first two years after birth were influenced by a requirement for supplementary oxygen after discharge from the neonatal intensive care unit. METHODS: Review of records from both the hospital and general practitioner. PATIENTS: 235 infants, median gestational age 27 (range 22-31) weeks, 88 of whom were receiving supplementary oxygen when discharged home. RESULTS: Overall, the infants required a median of 2 (range 0-20) admissions per patient, 8 (0-41) outpatient attendances, 13 (0-76) contacts with the general practitioner, and 17 (0-169) consultations with other primary healthcare professionals. The home oxygen patients required significantly more and longer admissions (p < 0.01) and more outpatient attendances (p < 0.05). The total cost of care per infant of the home oxygen group was greater (p < 0.001); this reflected higher costs for hospital stay (p < 0.01), total inpatient care (p < 0.01), and primary care drugs (p < 0.01). CONCLUSION: Despite routine use of antenatal steroids and postnatal surfactant, certain patients with CLD, particularly those who receive home oxygen treatment, show high rates of utilisation of health service resources after discharge from the neonatal care unit.

Health care utilisation of infants with chronic lung disease, related to hospitalisation for RSV infection.

AIMS: To compare the use of health care resources and associated costs between infants with chronic lung disease (CLD) who had or had not an admission with a proven respiratory syncytial virus (RSV) infection. METHODS: Review of community care, outpatient attendances, and readmissions in the first two years after birth. PATIENTS: 235 infants (median gestational age 27 weeks) evaluated in four groups: 45 infants with a proven RSV admission (RSV proven); 24 with a probable bronchiolitis admission; 60 with other respiratory admissions; and 106 with non-respiratory or no admissions. RESULTS: The RSV proven compared to the other groups required more frequent and longer admissions to general paediatric wards and intensive care units, more outpatient attendances and GP consultations for respiratory related disorders, and had a higher total cost of care. CONCLUSION: RSV hospitalisation in patients with CLD is associated with increased health service utilisation and costs in the first two years after birth.

Multifocal streptococcal pyomyositis complicated by acute compartment syndrome: case report.

A 5-year-old girl sought treatment for pyrexia of unknown origin. Despite prompt surgical drainage of a streptococcal septic arthritis of the ankle joint, her condition deteriorated. Multifocal pyomyositis was subsequently diagnosed. This was complicated by acute compartment syndrome in three extremities. With aggressive surgical and medical management, the child made a complete recovery. Orthopaedic clinicians in nontropical areas must familiarize themselves with this rare, potentially life-threatening, but eminently curable disease.

Choice of add-on therapy in asthma - another inhaler or a tablet/syrup? A survey of 1415 UK asthmatics.

OBJECTIVES: To determine preferences for asthma treatment given as inhaled therapy or as a tablet / syrup, to identify factors that influence this choice, and to assess how many patients would sacrifice greater efficacy of therapy in order to use the delivery route of their choice. DESIGN: Postal Questionnaire to patients with an active diagnosis of asthma aged less than 60 years under the care of general practitioners, paediatricians or adult respiratory physicians. MAIN OUTCOME MEASURE: Patient preference for inhaled therapy or tablet/syrup. RESULTS: 715 replies were analysed (93% Caucasian). 58% (417) preferred tablets (p<0.01) based on an equal chance of symptom improvement. There was no sex difference, but more children aged 6-10 and parents of under 6 year olds preferred tablets or syrup than adults (65% vs. 54%, p=0.03). Preference for tablets increased with number of current inhalers (p<0.05) but there was no correlation with total number of puffs per day or numbers of existing tablets taken. 238 (36%) opted for their preferred route of delivery in preference to greater efficacy. CONCLUSION: More asthmatics would choose a tablet or syrup than another inhaler as add-on therapy for their asthma. This preference was more marked in children and in patients already taking several inhalers. 36% of patients are prepared to sacrifice greater efficacy in favour of their choice of route of delivery.

Proteus syndrome and immunodeficiency.

A 10 year old boy with Proteus syndrome presented with a pericardial effusion of unknown aetiology. Immunological investigation revealed low serum IgG and IgA, accompanied by low levels of specific antibodies to pneumococcal and haemophilus type B polysaccharides. Circulating lymphocyte surface marker profile revealed T and B cell lymphopenia. This is the first report of hypogammaglobulinaemia occurring in the Proteus syndrome.

Randomised placebo controlled trial of nebulised corticosteroids in acute respiratory syncytial viral bronchiolitis.

OBJECTIVE: To evaluate short and long term effects of giving nebulised budesonide early in respiratory syncytial viral (RSV) bronchiolitis. DESIGN: A multicentre randomised double blind placebo controlled trial. SUBJECTS: Infants admitted to hospital with their first episode of RSV positive bronchiolitis. INTERVENTION: Randomisation to receive either 1 mg of nebulised budesonide (Bud) or placebo (Pla) twice daily from admission until 2 weeks after discharge. Follow up was for 12 months. MAIN OUTCOME MEASURES: Duration of hospital admission, time taken to become symptom free, re-admission rates, general practitioner consultation rates, and use of anti-wheeze medication during follow up. RESULTS: 161 infants were studied. Both arms were similar with respect to initial clinical severity, age, sex, socioeconomic class, and tobacco exposure. Median time from first nebulisation to discharge: Bud and Pla, 2 days. Median number of days for 50% of infants to be symptom free for 48 hours: Bud, 10 days; Pla, 12 days. Respiratory re-admission rates in the 12 month follow up: Bud, 16%; Pla, 18%; median difference (95% confidence interval (CI)), -2 (-14 to 10). Median respiratory related general practitioner attendances: Bud, 4.0; Pla, 4.5; median difference (95% CI), -1 (-2 to 0). Percentage of infants receiving at least one prescription for anti-wheeze medication during follow up, corticosteroids: Bud, 50%; Pla, 60%; difference (95% CI), -10 (-26 to 6); bronchodilators: Bud, 60%; Pla, 67%; difference (95% CI), -7 (-22 to 8). CONCLUSIONS: There are no short or long term clinical benefits from the administration of nebulised corticosteroids in the acute phase of RSV bronchiolitis.

RSV: Management of the acute episode.

Bronchiolitis is the most common lower respiratory tract infection in infants and is responsible for the majority of paediatric hospital admissions in the winter. Despite significant advances in pharmacotherapy, the management of infants with bronchiolitis has changed little over the years from supplemental oxygen and good fluid management. This paper reviews current treatment options for bronchiolitis, including the use of bronchodilators, adrenaline, steroids and ribavirin. More recent advances, including immunotherapy and intensive care, are discussed.

Abnormal surfactant composition and activity in severe bronchiolitis.

A prospective study of infants under 1 y of age, ventilated for severe viral bronchiolitis, was carried out in four paediatric intensive care units in order to study surfactant activity and composition in this condition. Lung lavage fluid from 24 infants with bronchiolitis, 19 with bronchiolitis and sepsis or cardiac failure and 12 controls were analysed by the "click test" for surfactant activity and for phospholipids. Surfactant activity was present in all controls, but in only 2 of the 24 infants with bronchiolitis alone. The presence of phosphatidylglycerol correlated perfectly with the click test, suggesting that reduced activity is due to changes in surfactant lipid composition. In those with bronchiolitis plus coexisting disease, surfactant activity and phosphatidylglycerol were absent in only half. Surfactant activity and phosphatidylglycerol re-appeared by extubation. Severe viral bronchiolitis is associated with an absence of surfactant activity and PG, which resolves by clinical recovery. Infants with coexisting conditions are not always surfactant deficient. Surfactant administration is likely to be beneficial, but requires a selective approach.

Gastrointestinal morbidity and growth after repair of oesophageal atresia and tracheo-oesophageal fistula.

Upper gastrointestinal morbidity and anthropometric data in 334 patients aged 1 to 37 years with repaired oesophageal atresia and tracheo-oesophageal fistula are reported. Two thirds were subsequently hospitalised with oesophageal complications and half underwent one or more surgical procedures. Thirteen percent were hospitalised for more than 50 days. Anastomotic strictures were present in one third and just under half had gastro-oesophageal reflux. Dysphagia was present in about 65% in all age groups but symptom severity and surgical intervention decreased significantly after 5 years of age. Gastro-oesophageal reflux symptoms were commoner in the older patients increasing from 18% in the group under 5 years of age to 52% in those over 15 years. Height centile distribution was normal, but the median weight centile was the 25th. Weight for height values greater than 2 SD below the mean were present in 13%, and two thirds of these patients were under 5 years of age. The majority of adults enjoyed a normal lifestyle and were comparable with their peers.

Respiratory morbidity after repair of oesophageal atresia and tracheo-oesophageal fistula.

Respiratory morbidity in 334 patients aged 1 to 37 years with repaired oesophageal atresia and tracheo-oesophageal fistula is reported. Just under half the patients were subsequently hospitalised with respiratory illness. Two thirds of admissions were before 5 years of age. Five percent were admitted on more than five occasions. Patients with gastro-oesophageal reflux and low birth weight were more likely to be admitted. Thirty one percent of patients had one or more episodes of pneumonia in the first five years of life and 5% after 15 years. The prevalence of annual bouts of bronchitis in these age groups was 74% and 41% respectively. The prevalence of wheeze was about 40% in all age groups. Patients with symptoms persisting after 15 years were more likely to have had lower respiratory tract illness in early childhood and a history of atopy. In the 12 months before review, weekly episodes of wheezing were present in one third under 5 years and 15% over 15 years. Thirty two percent of patients aged 5-10 years and 8% over 15 years missed two or more weeks of school or work in the previous year with respiratory illness.