Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia.

Making a diagnosis of transient non-ketotic hyperglycinaemia (tNKH) can be difficult. We report an infant who presented in the neonatal period with symptoms of NKH. Metabolic studies performed on day 2 of life showed raised cerebrospinal fluid (CSF) and plasma glycine, and a CSF:plasma glycine ratio consistent with NKH; however, a liver biopsy performed on day 5 revealed normal liver glycine cleavage system activity. Subsequently, the child's clinical condition improved in the absence of any therapeutic medication. Clinical assessment and developmental follow-up at 5 months, 1 year, and 2 years were age-appropriate. Guidance for the investigation and management of future suspected cases of tNKH is discussed.

Nebulized budesonide versus oral steroid in severe exacerbations of childhood asthma.

The aim of this study was to assess whether nebulized budesonide may substitute for oral prednisolone in the management of children whose asthma is severe enough to warrant hospital admission, but who have no life threatening features. In a prospective, double-blind, randomized study nebulized budesonide (2 mg 8 hourly) was compared with oral prednisolone (2 mg/kg at entry and again at 24 h) in 46 children admitted to hospital with severe asthma exacerbations. Efficacy variables (including lung function measurements such as the primary outcome variable, Forced Expiratory Volume in 1 second (FEV1) and symptoms) were measured 24 h after treatment initiation. FEV1 improved significantly compared to baseline in patients who received nebulized budesonide compared to the prednislone group. The data show nebulized budesonide to be at least as effective as oral steroid in improving lung function and symptom severity in severe exacerbations of childhood asthma.

Genetic testing for cancer: issues and ethical implications.

The explosive progress that has been made in cancer genetics in the past few years has given rise to new hope. These promising discoveries have also given rise to considerable uncertainty and debate concerning how this knowledge should be applied and who should have ownership of its products and effects. The medical, psychological, social, legal, and ethical implications of genetic testing for cancer, specifically breast and ovarian cancers, are discussed. The ethical principles of confidentiality, justice, beneficence, and autonomy as they relate to cancer predisposition testing also are explored. Recommendations are made for nursing practice, education, and research.

Postoperative neuroleptic malignant syndrome.

This report describes neuroleptic malignant syndrome in a previously healthy 6-year-old child. Droperidol and metoclopramide had been given, and hyponatraemia may have been a precipitating factor. Treatment with dantrolene sodium combined with a forced alkaline diuresis resulted in a full recovery.

Cardiomyopathy of glycogen storage disease type III.

To identify the severity of cardiac involvement in glycogen storage disease type III (GSDIII), and its relation to skeletal muscle involvement and age, 23 patients were studied. The median age was 10 years. Echocardiography, electrocardiography, and creatine phosphokinase (CK) levels were used to assess cardiac and skeletal muscle involvement. Septal and left ventricular posterior wall measurements were compared with normal data. Shortening fraction was derived from left ventricular cavity dimensions. In some patients the echocardiogram resembled that of hypertrophic cardiomyopathy. Thirteen of 20 electrocardiograms (ECG) were abnormal. Eleven patients had septal and/or posterior wall thickness > 95% confidence limits (CL). Despite this, cardiac symptoms were uncommon. The CK levels were not directly associated with cardiac abnormalities. Older patients (> 20 years) had more abnormal measurements of posterior wall thickness than did younger ones (< 20 years). This finding, albeit in a cross-sectional series, suggests progressive myocardial involvement with age despite the absence of symptoms.

Neurologic outcome of propionic acidemia.

Twenty patients with propionic acidemia were reviewed retrospectively. Two groups were identified: those who presented in the first week of life (11 patients) or after the neonatal period (9 patients). The early onset of disease had a much higher death rate (hazard ratio: 7.52) and all patients in this group were mentally retarded (IQ < or = 60). Movement disorder was common in both groups. Of the early-onset group, 3 patients had mild chorea or dystonia. Four in the late-onset group had a severe movement disorder. In the late onset group, cranial computed tomography disclosed transient basal ganglia lucencies following an episode of metabolic decompensation; however, no disturbance in amine neurotransmitter metabolite concentrations were found in the cerebrospinal fluid.

The long-term outcome of patients with glycogen storage diseases.

In this retrospective study from five centres, 139 patients over 10 years of age with glycogen storage disease types I, III, VI and IX are described. Almost half of the patients with glycogen storage disease type Ia had retarded growth and most had hyperlipidaemia. One-third of the patients had adenomas, although none of these showed malignant transformations. With increasing age the growth, liver size and hyperlipidaemia of patients with glycogen storage disease type III improve. However, there was a high incidence of myopathy and cardiomyopathy. Patients with glycogen storage disease types VI and IX had a normal growth pattern after childhood. Hepatomegaly and hypercholesterolaemia, however, were still present in half of the patients.