Biomedical subjects
Publications and source records attributed to P M Leary.
A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.
Infants and young children with the diencephalic syndrome exhibit a normal activity level despite profound marasmus. Investigation reveals an intracranial tumour and evidence of endocrine dysfunction. The condition is easily missed in Third World countries with a high prevalence of nutritional marasmus. The advent of computer tomography and magnetic resonance imaging has simplified diagnosis. The syndrome was diagnosed in 1981 in a boy of 20 months who had a large hypothalamic tumour. Initial endocrine studies revealed very high growth hormone levels. After radiotherapy, these levels reverted to normal for a time but have subsequently declined in keeping with a state of hypopituitarism. The boy's long-term survival has afforded an opportunity for study over eight years. During this time, growth has been slow but sustained. There has been some fall off in intellectual capacity. Characteristic features of the diencephalic syndrome are normal activity and a state of euphoria in a profoundly marasmic child. Investigation reveals the presence of an intracranial tumour and evidence of endocrine dysfunction. Though there are earlier references, the condition first came to medical attention at the annual meeting of the British Paediatric Association in 1951 when Russell described the typical features. In Third World countries where childhood marasmus is common, the syndrome is easily overlooked. The present report concerns a boy who has been closely followed for more than eight years.
An analysis of poisoning cases treated at the Red Cross War Memorial Children's Hospital during 1987 and of calls received on the poisons line is presented. Treatment of 1,116 children was undertaken and 922 telephone calls were logged. Of the patients treated, 60% had ingested a drug and 30% had drunk paraffin. The high prevalence of paraffin poisoning in the western Cape is examined. Constant vigilance must be maintained if childhood poisoning is to be prevented.
Sixty children on long-term treatment with anticonvulsant drugs were examined for evidence of adverse reactions. The prevalence of reported side-effects was extremely low. Adverse effects on haematopoiesis were not demonstrated, and only 2 children had alanine aminotransferase levels above the reference range. Nine children had biochemical evidence of altered calcium metabolism. The findings suggest that repeated routine laboratory monitoring of asymptomatic children on long-term anticonvulsant therapy is not essential.
An outline is given of the incidence and aetiology of childhood convulsions. Aspects of diagnosis and drug therapy are discussed.
A study of questionnaires completed by the parents and class teachers of 70 children with learning diabilities revealed evidence of considerable parental satisfaction with scholastic progress and improved behaviour. These advances were attended by a significant reduction in domestic tension and concern about the children's future. However, teacher ratings indicate that despite prolonged remedial teaching more than half of the group remained at a scholastic level below the average class performance.
A comparison has been made between the electro-encephalograms (EEG) recorded in the premenstrual phase and those recorded at mid-cycle in 25 healthy young women. In only 5 could no difference be discerned visually between the two records obtained from each subject. Eight premenstrual records showed a significant increase in mean alpha frequency and 17 showed an increase in mean alpha amplitude. Theta activity and mild paroxysms were twice as common in premenstrual records, as was an abnormal response to hyperventilation. These findings may correlate with subjective mood changes commonly experienced in the premenstrual phase and in the well-recognized tendency of certain epileptic women to have seizures only at the time of their menses. It is suggested that when reporting on the EEGs of female subjects, cognizance should be taken of the stage reached in the menstrual cycle at the time of recording.
The indications for the use of methylphenidate in 250 children are reviewed, and the effect of the drug is examined. Concentration was improved or hyperactive behaviour diminished in 89% of the children with normal intelligence and with no gross physical defect, in 72% of the children with cerebral palsy, and 68% of the children with subnormal intelligence. In children with emotional disturbance, response to methylphenidate was seldom satisfactory. Significant side-effects occurred infrequently and only 2 children lost weight during the period of medication.
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The electro-encephalogram (EEG) is a useful adjunct when clinical history and physical examination suggest the diagnosis of epilepsy, whether idiopathic, focal or petit mal. It may be helpful in separating the child with simple convulsions due to fever from the child whose epileptic dysrhythmia first finds outward expression while he is feverish. The real nature of disordered behaviour may be demonstrated by the EEG which shows specific evidence of temporal lobe abnormality. In many infective and metabolic disorders of childhood, the EEG has little if any diagnostic specificity, and there is real danger that a variety of entities, such as abdominal pain, aggressive behaviour or minimal brain dysfunction, may be incorrectly attributed to cerebral dysrhythmia on the basis of incidental EEG changes.
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Clinical and laboratory experience with the EMIT immunoassay method for the determination of serum phenobarbitone levels is reported. A modification of the published laboratory method permitting manual operation in a general clinical chemistry laboratory was used. In 42 of the 75 children monitored, the serum levels of phenobarbitone indicated a change of the prescribed dosage.
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The syndrome of minimal brain dysfunction is found in at least 5% of South African schoolchildren. The aetiology and pathology of this entity are uncertain. Presenting features include hyperactive behaviour, problems of fine motor co-ordination, learning disabilities and certain 'soft' neurological signs. Skilled remedial teaching is the mainstay of successful management.
A statistical analysis of poisoning cases treated at the Red Cross Children's Hospital is presented. The organisation and functioning of the Poisons Reference Centre is described and an analysis made of the poison ingestions reported to the Centre.
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