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A 5-year-old girl with cutis marmorata telangiectasia congenita (CMTC) and congenital glaucoma, who had previously presented with seizures, transient hemiplegia, upper gastrointestinal bleeding and hemihypertrophy, developed a large pleural effusion. Subsequent imaging revealed renal lymphangiomatosis, multiple anomalous intra-abdominal venous channels, an interrupted inferior vena cava with a persistent primitive hepatic venous plexus (PPHVP) and meningeal angiomas. To the best of our knowledge, the CT findings of PPHVP and the combination of the demonstrated abnormalities have not been previously reported. They may represent an overlap syndrome of CMTC, Sturge-Weber syndrome and Klippel-Trenaunay syndrome. The complexity and degree of overlap highlights the importance of an accurate clinical and anatomical description and good communication among clinicians.

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.

Use of home oxygen therapy for prematurely born infants with chronic lung disease (CLD) can facilitate early discharge, but affected infants might require more readmissions. Our aim was to determine if health care utilisation and associated costs in the first 2 years were greater in centres with a high compared to centres with restricted use of home oxygen therapy. A retrospective review of the hospital and general practitioner (GP) medical records of 235 infants with CLD (median gestational age 27 weeks; range 22–33 weeks) was performed to note their readmissions, outpatient attendances, community service referrals and cost of care in the first 2 years after birth. A total of 76 infants (64%) in the high use centres and 12 (10%) in the restricted use centres were discharged home on oxygen. Infants in the high use centres were discharged home from neonatal care at a younger age (median 37.7 versus 39.9 weeks; P

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.Review of records from both the hospital and general practitioner.235 infants, median gestational age 27 (range 22-31) weeks, 88 of whom were receiving supplementary oxygen when discharged home.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 (p0.01) and more outpatient attendances (p0.05). The total cost of care per infant of the home oxygen group was greater (p0.001); this reflected higher costs for hospital stay (p0.01), total inpatient care (p0.01), and primary care drugs (p0.01).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.

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. (Arch Dis Child 2001;85:463‐468)

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

BACKGROUND: Respiratory complications are common after neonatal repair of oesophageal atresia and tracheo-oesophageal fistula. The prevalence of lung function abnormalities and the relation between gastrointestinal complications and lung function has not been studied in a large number of patients. METHODS: Lung volumes and flow-volume loops were measured in 155 patients without spinal curvature aged 6-37 years who had undergone surgery for oesophageal atresia and tracheo-oesophageal fistula. RESULTS: Sixty four of the 155 patients had evidence of mild lower airways disease, with values for FEV1 more than two standardised scores below the predicted value in 39 (25%) and above 2 standardised scores for the residual volume (RV)/total lung capacity (TLC) ratio in 64 (41%). Restrictive lung disease (TLC more than 2 standardised scores below predicted) was present in 28 (18%). Severe lung function abnormalities were present in under 10% of the 155. Half the subjects had some evidence of extra-thoracic tracheal obstruction, with a high ratio of expiratory to inspiratory flow for peak flow in 76 (50%) and at 50% of vital capacity in 59 (38%). Patients with radiological gastro-oesophageal reflux in early childhood had more airways obstruction and smaller lung volumes. Patients with current gastrointestinal symptoms were similar in their lung function to symptom free patients. CONCLUSIONS: Minor lung function abnormalities are common in patients after repair of oesophageal atresia. Early diagnosis and management of gastro-oesophageal reflux may help to minimise these lung function abnormalities.

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.Observational study.Four tertiary neonatal intensive care units.190 children, median gestational age 27 weeks (range 22-31), 70 of whom received supplementary oxygen when discharged home.Review of hospital and general practitioner records together with a parent completed respiratory questionnaire.Healthcare utilisation, cost of care, cough, wheeze, and use of an inhaler.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 (p0.0001). Their total cost of care was higher (p0.0001). 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 (p0.0001).Children with BPD who have supplementary oxygen at home after discharge have increased respiratory morbidity and healthcare utilisation in the preschool years.

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.

Aims To determine in prematurely born children who had bronchopulmonary dysplasia (BPD), if respiratory morbidity, lung function, healthcare utilisation and cost of care at school age were influenced by a requirement for supplementary oxygen at home after discharge from the neonatal intensive care unit (NICU). Methods One hundred and sixty children, median gestational age 27 (range 22–31) weeks, cared for on four tertiary neonatal intensive care units were examined. Sixty five of them had received supplementary oxygen when discharged home from the NICU (home oxygen group). A parent completed respiratory questionnaire was administered and lung function measurements (including assessment of bronchial hyper-responsiveness) were undertaken when the children were eight years old. Healthcare utilisation during years five to seven was assessed by examining hospital and general practitioner records to identify all hospital admissions, out-patient and general practitioner attendances and medication prescribed; whether the healthcare utilisation was related to respiratory problems was noted. The cost of care was calculated using the National Scheme of Reference Costs (2003) and medication costs calculated using the British National Formulary prices. Results No child was oxygen dependent at school age. There were no significant differences in cough or wheeze or in the baseline lung function results between the two groups, but there was tendency for more of the home oxygen group to respond to a cold air challenge (p=0.0596). The home oxygen group had more out-patient attendances (p=0.0168), particularly for respiratory related problems (p=0.0032), with greater associated costs of care (p=0.0186, p=0.0030 respectively). In addition, their cost of care for prescriptions (p=0.0409) and total respiratory related cost of care (p=0.0354) were significantly greater that that of the non-home oxygen group. Conclusion Children with BPD who required supplementary oxygen at home after discharge from the NICU have increased healthcare utilisation and associated cost of care at school age. These results emphasise such prematurely born children need ongoing follow up beyond when they cease to require home oxygen.

Spinal deformity was present in 58 (19%) of 302 patients born with oesophageal atresia and fistula when examined at review. This was present in 24 (47%) of 51 patients with vertebral anomalies and 34 (14%) of 251 patients with normal vertebrae. Scoliosis was present in 21 patients with vertebral anomalies, torticollis in two, and lordosis in one. Two thirds of the patients with congenital scoliosis have had or are likely to require operation, compared with five patients with non-congenital scoliosis. Scoliosis associated with mixed vertebral anomalies in the lower thoracic spine had the worst prognosis. The medical records of a further 64 patients who had survived operation but who could not be traced were reviewed, and indicated that four had had congenital vertebral anomalies but none had a spinal deformity. We recommend early detection of vertebral anomalies in this group and careful follow up of patients with these abnormalities.

Comparison in size at birth was made among Indian mothers of Hindu, Sikh, and Moslem origin living in Leicester and their infants, and white mothers and their infants. White infants were significantly heavier than infants from all Asian subgroups studied and had larger heads. Sikh babies were significantly longer and heavier than Moslem and Hindu babies, and in some respects were more comparable to white infants than their Indian peers. There were no important differences between the Moslem and Hindu babies.

At the Royal Children's Hospital, Melbourne, 553 babies with oesophageal atresia and/or tracheo-eesophageal fistula have been admitted during the past 39 years; 36 (6.5%) of these had oesophageal atresia without a tracheo-oesophageal fistula. Definitive surgery was performed in 27 patients: the primary definitive procedure was oesphageal anastomosis in 15 and oesophageal replacement in 12. Aspects of diagnosis and selection of the most appropriate treatment modality are discussed, with the results of treatment presented. Our current policy is to perform an oesphhageal anastomosis whenever possible, and this has been successful in 7 of the last 11 patients.

One hundred and twenty five adults who were born before 1969 with oesophageal atresia or tracheo-oesophageal fistula or both and were managed at the Royal Children's Hospital, Melbourne, were reviewed. Most enjoyed a normal life. Though over half had difficulties in swallowing and symptoms of gastro-oesophageal reflux, the symptoms occurred only occasionally and were regarded as inconsequential by most. One third of the patients had wheeze and a quarter had at least one episode of bronchitis a year, but these interfered little with daily activities. Overall, these results are encouraging for young patients with oesophageal atresia and their families.

Chest wall deformities developed after thoracotomy for esophageal atresia, in 77 of 232 patients (33%) who did not have a congenital vertebral anomaly. Anterior chest wall asymmetry was present in 47, scoliosis in 18 and a combination of both in 12 patients. Scoliosis was convex away from the incision in two thirds of those affected. Anterior chest wall deformity was more common in patients greater than 25 years of age, and scoliosis was more common in patients who had had multiple thoracotomies. Breast surgery to minimize inequality was required in three female patients, and spinal surgery in one patient. Twenty-two of 53 patients with a congenital vertebral anomaly developed scoliosis, eight of whom required surgery. The scoliosis was probably the result of the vertebral anomaly in these patients, who are particularly at risk for progressive deformity.