Effect of intracranial bleeds on the neurocognitive, academic, behavioural and adaptive functioning of boys with haemophilia.

Brain insults are a risk factor for neuropsychological and academic deficits across several paediatric conditions. However, little is known about the specific effects of intracranial haemorrhage (ICH) in boys with haemophilia. The study compared neurocognitive, academic and socio-emotional/behavioural outcomes of boys with haemophilia with and without a history of ICH. Of 172 consecutive patients seen at a Pediatric Comprehensive Care Hemophila Centre, 18 had a history of ICH. Sixteen boys between the ages of 3 and 17 years were available for study and were matched to controls with haemophilia of the same age and disease severity and on the basis of maternal education. Groups were compared on neuropsychological and academic outcomes. Attention, socio-emotional function and executive skills were compared using data from parent questionnaires. Differences were found in intellectual function, visual-spatial skill, fine motor dexterity and particularly language-related skills, including vocabulary, word reading and applied math problem solving. Despite these group differences, outcomes were within the average range for most boys with ICH. No group differences were found in behavioural and socio-emotional functioning. Although ICH in haemophilia is not benign, it was not associated with significant cognitive and academic consequences for most boys. Early neuropsychological assessment may be indicated when there is a history of ICH. Investigation of age at ICH and quantitative measures of brain in relation to neurocognitive outcomes in larger groups of boys with ICH would be useful.

Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.

A patient with methylmalonic and beta-hydroxy-n-valeric aciduria, apparently due to deficiency of methylmalonyl-CoA mutase, is described. The excretion of beta-hydroxy-n-valerate did not parallel that of beta-hydroxypropionate and methylmalonate but was observed, together with beta-keto-n-valerate, only during ketosis. beta-Hydroxy-n-valerate excretion thus correlates primarily not with the pool size of propionyl-CoA but with that of acetyl-CoA, and may occur during ketosis in any disorder causing accumulation of propionyl-CoA.

Urinary organic acids quantitated by age groups in a healthy pediatric population.

Urine samples from 92 individuals of a healthy pediatric population ranging in age from less than 24 h to 12 years were analyzed for organic acid content (amino acids excepted). A few samples from adults were included for purposes of comparison. Acids were extracted by using an anion-exchange procedure, converted to trimethylsilyloxime derivatives, and analyzed by gas chromatography with the help of a small computer system. Identifications were confirmed by using a combined gas chromatograph/mass spectrometer/computer system. The data has been tabulated according to five pediatric age groups. Despite large individual variation within age groups, significant differences in amounts of several acids excreted (based on urinary creatinine concentration) have been determined between age groups. Such differences might be due to one or a combination of several factors, including changes with age in creatinine excretion, in physiologic maturity, and in diet. Such data may help to provide a basis for diagnosing metabolic abnormalities in pediatric patients.

4-hydroxycyclohexane-1-carboxylic acid: an unusual compound isolated from the urine of children with suspected disorders of metabolism.

1. An unknown compound has been isolated in the acidic fraction of urine samples taken from several children suspected of having metabolic disorders. 2. This unknown has been characterized using a gas chromatograph/mass spectrometer/computer system. Both the high and low resolution mass spectra have been determined and a structure proposed. 3. Authentic samples were synthesized and compared to the unknown and a final proof of structure is presented. The compound, 4-hydroxycyclohexane-1-carboxylic acid, is suspected to come from a dietary source but the actual genesis will be determined in future work.