Search

Although there are several reports on infant and childhood growth in patients with Sotos syndrome, there is little information on the final height achieved and puberty. Growth data on 40 patients (20 female and 20 male) aged 2-31 years were collected. These showed that patients with Sotos syndrome are excessively tall at birth, during infancy, and during childhood. Disproportionately long limbs constitute much of the increase in stature. However, the combination of advanced bone age and early onset of menarche led to a mean (SD) final height of 172.9 (5.7) cm in women. This is within the normal range for the population. Most of the men also attained a final height (mean, 184.3 cm; SD, 6.0) within the normal range, although exceptions were more likely in men than in women. Therefore, these results show that most patients with Sotos syndrome do not require intervention to limit their adult height.

Aim: To compare mortality and respiratory morbidity in preterm infants born at 4 United Kingdom centers during 1994 and 1995., Method: Collection of CRIB scores, respiratory parameters and mortality rates from unit databases., Results: Mortality in center A was 27% (actual number of deaths 36/135), in center B was 30% (39/130), in center C was 28% (51/182), in center D was 39% (60/156). The rate of chronic lung disease (36 week definition) in center A was 16%, in center B was 12%, in center C was 13%, in center D was 15%. The predicted number of deaths by CRIB scores in center A was 54 (95% confidence intervals 45-63), in center B was 33 (25-41), in center C was 53 (43-63), in center D was 46 (37-56)., Conclusion: Center A had a lower than predicted mortality. Center D had a higher than predicted mortality. There is an urgent need for a national neonatal database to allow comparison between center and to identify reasons for variation in outcomes.

Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterized by autoimmune hypoparathyroidism, autoimmune adrenocortical failure, and mucocutaneous candidiasis. Recently, an autoimmune regulator gene (AIRE-1), which is located on chromosome 21q22.3, has been identified, and mutations in European kindreds with APS1 have been described. We used SSCP analysis and direct DNA sequencing to screen the entire 1,635-bp coding region of AIRE-1 in 12 British families with APS1. A 13-bp deletion (964del13) was found to account for 17 of the 24 possible mutant AIRE-1 alleles, in our kindreds. This mutation was found to occur de novo in one affected subject. A common haplotype spanning the AIRE-1 locus was found in chromosomes that carried the 964del13 mutation, suggesting a founder effect in our population. One of 576 normal subjects was also a heterozygous carrier of the 964del13 mutation. Six other point mutations were found in AIRE-1, including two 1-bp deletions, three missense mutations (R15L, L28P, and Y90C), and a nonsense mutation (R257*). The high frequency of the 964del13 allele and the clustering of the other AIRE-1 mutations may allow rapid molecular screening for APS1 in British kindreds. Furthermore, the prevalence of the 964del13 AIRE-1 mutation may have implications in the pathogenesis of the more common autoimmune endocrinopathies in our population.

This study was designed to compare the growth of Pakistani schoolchildren in the UK with the 1990 UK growth standards. Measurements of height, weight, and sitting height were performed on 785 Pakistani schoolchildren aged 5-14 years with the mean values for each age and sex being plotted on the UK growth standards. The results were expressed as SD scores relative to the 1990 reference data. The mean height for the boys was only 0.2 SD scores below the mean for the new growth standards with the mean height for the girls being 0.4 SD scores below the mean. The mean values for weight and body mass index were 0.3 and 0.5 SD scores less than the mean for boys and girls respectively. This study demonstrates that the growth of Pakistani schoolchildren in the UK is comparable to the 1990 UK growth standards with only minor differences. It is not safe to assume that short stature or low body weight in a Pakistani child is due to his or her ethnic background.

Objective: Osteoporosis is a recognized problem in adult women with Turner's syndrome, the aetiology of which is unclear. The aim of this study was to examine bone mineralization longitudinally in a group of girls with Turner's syndrome and to study the effect of different treatments on bone mineral density., Design: A prospective observational study., Patients: Eighteen girls with Turner's syndrome aged 4-17 years attending a paediatric endocrine clinic., Measurements: Bone mineral density of the lumbar spine was assessed using dual energy X-ray absorptiometry at several time points over a 2.5-year period., Results: Only one girl had evidence of a significant reduction in bone density when comparisons were made with control data related to body weight and pubertal status. No advantage was found for any form of treatment in optimizing bone mineralization., Conclusions: As there is little evidence of reduced bone mineral density in girls with Turner's syndrome there is no justification for an early introduction of oestrogen replacement during the prepubertal years.

Unlabelled: The preterm infant is deficient in vitamin A (retinol) and this has been implicated in the pathogenesis of chronic lung disease of prematurity. Conjunctival impression cytology (CIC) has been used in adults to assess retinol status. We aimed to assess the feasibility of performing CIC in the preterm infant and to determine the significance of abnormal CIC findings. CIC samples were collected during routine retinopathy screening, and classified as inadequate, normal, borderline normal or abnormal. Ninety preterm infants were studied. Seventy-four (82%) CIC specimens produced a positive yield, whereas 16 (18%) were inadequate. Of the 74 adequate samples, 61 (82%) were normal or borderline normal and 13 (18%) abnormal. Seventy-three CIC specimens were assessed by a second histopathologist with complete agreement on 64 (88%) samples and disagreement on 9 (12%) samples. Ten sets of conjunctival impressions, taken from both eyes, gave identical results in all adequate samples. Birth weight was significantly lower in this abnormal group. Four infants (32%) in the abnormal group required treatment for retinopathy compared to two (3%) in the normal/borderline normal group, (P < 0.01)., Conclusion: Conjunctival impression cytology is simple and reproducible technique which maybe easily applied to the preterm infant. Abnormal CIC is associated with retinopathy of prematurity requiring treatment.

The outcome of infants who were admitted to the neonatal intensive care unit at Liverpool Maternity Hospital between January 1980 and December 1989 and who developed chronic lung disease (n = 242) was determined. Forty-three (18%) died in hospital and 18 (9% of survivors) were discharged with home oxygen therapy. The number of days spent receiving supplementary oxygen significantly correlated with the number of days of ventilatory support received and the inspired oxygen concentration on day 28. Logistic regression analysis revealed that death in the hospital was independently associated with being male, and correlated with the number of days of ventilatory support received and the inspired oxygen concentration on day 28. An equation that predicted the probability of death in infants with chronic lung disease was derived and was validated for infants with chronic lung disease at another center (Nottingham). This equation may be useful clinically and for research.

We have identified a polymorphic tetranucleotide consisting of (AAAT)n within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families. An association between the PTH locus and autosomal dominant idiopathic hypoparathyroidism in one family was excluded by observing recombination between the two loci. In the remaining two families with autosomal recessive idiopathic hypoparathyroidism, the PTH locus was not similarly excluded. We had previously demonstrated a donor splice site mutation of the PTH gene in one of these families, and PTH gene abnormalities were therefore sought in the second of these families. DNA sequence analysis of the three exons, together with 4 exon-intron boundaries and the promoter region of the PTH gene revealed no abnormalities, thereby indicating molecular pathology at another locus. Thus, our analysis of idiopathic hypoparathyroidism reveals genetic heterogeneity for this disorder. In addition, our identification of a microsatellite polymorphism of the PTH gene should help further segregation studies of this locus in families with parathyroid disorders.

The prevalence of smoking amongst a group of 77 diabetic teenagers aged 11-18 years attending two paediatric clinics was determined using a questionnaire and urine cotinine assay. Five individuals were identified as definite smokers with two further individuals being probable smokers, all of whom were aged 15 years or more. This low prevalence (9%) is in contrast to a 48% prevalence in a young adult diabetic clinic. Many diabetic teenagers appear to acquire a regular smoking habit after leaving the paediatric clinic so it is important that health education is targeted at this group.

Acute renal failure requiring dialysis occurred in 34 children (2.9%) following cardiac surgery over a five year period. 17 children (50%) recovered renal function with 11 (32%) long-term survivors. The long-term outcome for the survivors, in terms of renal function, was studied from 1 to 5 years after their episodes of acute renal failure. Three children had significant abnormalities of renal function despite normal urinalysis. Detailed assessment of renal function is advocated for children who survive acute renal failure following cardiac surgery.

The medical records of 58 patients who were surviving after completing treatment for acute lymphoblastic leukemia were reviewed to determine the incidence of skin rash occurring after their treatment had ended. Twenty-eight (48%) developed a rash within 3 months of completing treatment. In the majority this was erythematous, affected the face, and in all patients was transient. There was an increased incidence of rash in those patients who had eczema or asthma or who had a family history of eczema or asthma. It would seem prudent to warn parents of this phenomenon and reassure them of it's benign nature.

Captopril was used in 20 infants aged less than 1 year with heart failure secondary to defects with predominantly a left to right shunt that was poorly controlled with digoxin and diuretics. Total daily dose of captopril ranged from 0.88 to 2.5 mg/kg (mean 1.3 mg/kg) in three divided doses. Improvement in the control of heart failure was seen mainly as an increase in the rate of weight gain from a mean of 48 g/week before treatment to 102 g/week on treatment and a decrease in the mean respiratory rate from 68 breaths/minute to 60 breaths/minute. Side effects were seen in four patients--two with asymptomatic mild hypotension, one with renal insufficiency which improved with a reduction in dose, and one with severe oliguria progressing to renal failure. Significant changes in plasma electrolyte concentration did not occur except in the infant who developed acute renal failure.

Sublingual nifedipine was used for the treatment of acute severe hypertension in 12 children with renal disease. An average dose of 0.24 mg/kg was safe and proved effective on most occasions within 30 minutes with a median duration of action of three hours. There were no major adverse effects.

Little is known of pulmonary function in survivors of acute lymphoblastic leukaemia (A.L.L.); this is despite the fact that some drugs used, most notably methotrexate, have well-recorded pulmonary toxicity, and the most common infections during therapy in most series are of upper and lower respiratory tract. As part of a survey of all cancer survivors attending the Royal Hospital for Sick Children in Edinburgh, 38 leukaemic patients, who had completed treatment 3 months to 14 years 6 months (median 6 years and 8 months) prior to survey were assessed with regards to their respiratory status. Each patient completed a questionnaire and had spirometry and lung volumes measured; 30 patients additionally had transfer factor for carbon monoxide (TCO) measured. There were 21 children, 11 adults, and 6 patients in the age range between child and adult. Of the 26 adults and children studied with complete data available, 17 (65%) had one or more low values for vital capacity (VC), total lung capacity (TLC), residual volume, or TCO. Mean VC, TLC and TCO were significantly lower than the mean of the predicted values (P less than .001). Gas transfer per unit lung volume (KCO) was normal in all cases. Few patients had symptoms of respiratory disease. There was an increased incidence of low TCO in patients diagnosed under 8 years of age. Impairment of lung growth could be a contributing factor to the observed abnormalities in pulmonary function. Impairment of pulmonary function in survivors of A.L.L. may be of significance for them in later life.

A patient presenting with intraocular hemorrhage at 4 weeks of life was suspected of having sustained a nonaccidental injury. Juvenile chronic myelogenous leukemia (JCML) was diagnosed, and subsequently the patient developed the signs of neurofibromatosis. There is an association between the two conditions, but the poor prognosis from JCML may mean that evolving neurofibromatosis is overlooked, particularly if a family history of the disease is not obtained.

The relation between the superior orientation of the QRS axis and the anatomical site of the defect in the ventricular septum in patients with a ventricular septal defect was studied. Of 1031 patients with a ventricular septal defect, 64 (6.2%) had a superior axis on their electrocardiogram. In 59% of these patients the defect was in the inlet portion of the ventricular septum or affected this area. None of the cases was classified as an isolated ventricular septal defect of the persistent atrioventricular canal type. While there is an association between a superior axis and perimembranous inlet ventricular septal defect, a superior QRS axis does not characterise a ventricular septal defect as being of the atrioventricular canal type.

A 16-month-old girl presented with hepatosplenomegaly and pancytopenia. Bone marrow aspiration showed a florid increase in macrophages with marked hemophagocytosis. She subsequently improved spontaneously with no therapeutic intervention, but 2 months later presented with frank acute monoblastic leukemia. This case illustrates the difficulties in classifying malignancies of the monocyte-macrophage lineage and how hemophagocytosis can be the presenting feature of a range of diseases.

A case of epilepsy precipitated by bathing is described and previously reported cases are reviewed. The prognosis for this rare form of reflex epilepsy seems to be good, in that the seizures resolve with age and neurodevelopment remains normal.

A 5 year old boy developed liver failure secondary to infection with Epstein-Barr virus. He was subsequently shown to have a partial C4 complement deficiency. The importance of considering Epstein-Barr virus as a cause of fulminant hepatic failure and the need to assess immune state in such an event is emphasised.