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Looking for vacuolated lymphocytes in a blood film may provide a pointer to a diagnosis of metabolic disease. At Great Ormond Street Children’s Hospital, London (
) over a period of 15 years 2550 blood films were examined for lymphocyte vacuolation and 156 (6%) gave a positive result. The reasons for requesting the examination included neurological problems (developmental delay or regression, seizures, ataxia, dystonia), cardiomyopathy, hepatosplenomegaly, and ophthalmic disorders. The last of these gave the highest positivity rate (40%). The most common diagnoses associated with vacuolated lymphocytes were Juvenile Batten’s disease (49 cases), Pompe’s disease (24), and GM1 gangliosidosis (14). Other diagnoses included adult acid maltase deficiency (12 of the 232 films from adults), galactosialidosis (7), mucopolysaccharidosis (7), and I cell disease (6). The number, size, or staining properties of the vacuoles may point to specific diagnoses such as juvenile Batten’s disease or acid maltase deficiency. With good technique there should be no false positives but false negatives may occur and repeated examinations may be necessary.
The pleasure associated with food, alcohol, and recreational drugs may, at least in part, be a result of the release of endocannabinoids that activate the cannabinoid-1 (CB1) receptor, ultimately causing “pleasure molecules” such a dopamine and serotonin to be released in the brain. Rimonabant is a specific blocker of the CB1 receptors present in brain and peripheral tissues. Given to obese, dyslipidaemic adults it was associated with weight loss, reduction in waist circumference, and improvement in metabolic cardiovascular risk factors (
) . There is some evidence that rimonabant might also help to control smoking and alcohol or recreational drug misuse. This could lead to considerable media hype; it has been labelled “the anti-vice pill” (
) and a “blockbuster waiting to happen”, predicted to join Prozac and Viagra as a “celebrity pharmaceutical”. The hype, however, could be dampened by concerns about tolerability and the possibility of as yet unknown side effects with long-term administration.
Zinc supplements given to young children in developing countries reduce the incidence of pneumonia and diarrhoea but there has been concern that zinc might increase HIV-1 replication. A trial in South Africa (
) has provided reassurance. Ninety-six children aged between 6 months and 5 years with HIV-1 infection were randomised to zinc or placebo for 6 months. At baseline and at 3, 6, and 9 months the mean values for HIV-1 viral load and CD4 cell count were virtually the same in the two groups and the zinc group had less diarrhoea. Two children died in the zinc group and seven in the placebo group. Children with HIV-1 infection should not be excluded from zinc supplementation programmes; zinc should be part of the treatment of such children.
Low birthweight increases the risk of later coronary disease but the effects of childhood growth patterns are uncertain. Data have been analysed from 8760 people born in Helsinki, Finland between 1934 and 1944 (
; see also editorial, ibid: 1848–50). Between 1971 and 1998 a total of 444 of these people had been admitted to hospital with, or died from, coronary disease. When these 444 were compared with the other 8316 they were found to have been smaller at birth and during the first 2 years of life but to have gained weight rapidly between the ages of 2 and 11 years. Having a low body mass index (BMI) at age 2 years and increasing BMI between 2 and 11 years were both associated with evidence of insulin resistance at age 60 years.
Two cases of a new metabolic disorder, congenital glutamine deficiency, have been described (
; see also editorial, ibid: 1968–70). A boy and a girl, unrelated but each with consanguineous Turkish parents, both had brain malformations and severe neurological dysfunction from birth. They died after 2 days and in the fourth week respectively. The boy’s brain showed almost complete agyria, large lateral ventricles, paraventricular cysts, and cerebellar hypoplasia. That of the girl showed marked attenuation of the gyri and subependymal cysts. Both children had dysmorphic features and the girl also had marked diarrhoea and a generalised, blistering, erythematous rash. They had low or undetectable concentrations of glutamine in serum, urine, and CSF but normal concentrations of glutamate. Each child was homozygous for a different missense mutation in the glutamine synthetase gene (R342C and R341C) and further investigations suggested that these mutations are associated with reduced glutamine synthetase activity.
Lower respiratory tract infections with respiratory syncytial virus (RSV) significantly increases the likelihood of subsequent respiratory problems among infants born before 32 weeks gestation. In London (
) 126 such infants born in the months of February to March (before the RSV season) in 2002 or 2003 were followed up to a corrected age of 1 year. Nasopharyngeal aspirate samples for immunofluorescence and culture for RSV were obtained whenever there were symptoms of a lower respiratory tract infection (LRTI) either at home or in hospital. Forty-two infants had an RSV-positive LRTI, 50 an RSV-negative LRTI, and 32 no LRTI. On subsequent follow up the RSV-positive LRTI group had significantly more hospital admissions, more days in hospital, and more reported cough and wheeze than infants in the other two groups. An increasing number of siblings and maternal smoking in pregnancy were associated with significantly increased risk of RSV-positive LRTI. These researchers conclude that humanised RSV monoclonal antibody (palivizumab) prophylaxis, when not given routinely to infants born before 32 weeks, should be considered for those with siblings or whose mothers smoked in pregnancy.
To find a swallowed coin in a child all you need is a handheld metal detector. It’s easy, cheap, reliable, and quick, and involves no radiation. A systematic review of 11 studies involving 739 children (
) has shown a sensitivity of 99.4%, a specificity of 100%, and an accuracy in localising the coin of 99.8%. The technique may not be reliable for metallic objects other than coins (button batteries or needles, for example) and false negative results have been recorded in extremely obese children. The detector should not be used when there are known metallic implants such as thoracotomy wires or metal clips; all external metal should, of course, be removed. A case management algorithm is included in the paper. At less than £90 a machine (doing four fewer x rays would recoup the cost) every emergency department should have one.