The syndrome of abnormal neutrophil chemotaxis, unusual facies, proportionate small stature and sensorineural deafness-mutism.
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Biomedical subjects
Publications and source records attributed to D A Simpson.
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A girl presented with purulent meningitis at ages 6, 8, and 11 years. She was in good health between these three episodes. When aged 16 one of her brothers also experienced an attack of pneumococcal meningitis. Complement studies showed lack of C2 in the patient and the brother, and intermediate values in the mother and a sister. No other member of the family was available for study.
In children, acquired skull defects often close spontaneously. This is most likely to take place when the dura mater and the pericranium are intact. Congenital skull defects rarely close spontaneously. Cranioplasty will be needed when a bone defect has failed to close or when it is unlikely to do so. Various methods are available: autogenous bone, acrylic resin, and metal prostheses have been widely used. A series of 68 operations performed on children under the age of 15 years is reviewed. It is concluded that shaped titanium plates are usually preferable. These can be formed by hand, or in a pressure chamber; simple defects can be closed with ready-made titanium strips. Fixation by screws is recommended. Titanium plates have been used successfully even in very young children.
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Colloid cysts and other benign tumours of the third and lateral ventricles may be exposed through a small incision in the body of the corpus callosum. This approach is practicable even when ventricular dilatation is slight, and is theoretically less likely to cause epilepsy than the more usual transcortical approach. Disturbances of memory have been noted soon after such operations, but do not cause serious long-term disability. Three patients who underwent transcallosal removal of cysts or tumours some years earlier have been tested by procedures designed to demonstrate interhemispheric transfer of information: they were all found to have defects in transfer of tactile data, but not of information obtained visually. They were not aware of this inability, and do not appear to be inconvenienced by it. The transcallosal route is convenient. The operation sacrifices a functionally significant part of the corpus callosum, but the neurological sequelae have seemed acceptable. However, especially in the elderly, stereoventriculoscopic aspiration may be considered as the initial method of treatment.
Injuries of the nervous system are common, and cause many deaths and much permanent disability. They inflict an enormous financial burden on the national economy; in Australia, adequate data are at present lacking, but a simple extrapolation from Canadian statistic suggests an estimate of more than $500,000,000 annually for the injuries resulting from road traffic accidents alone; if other causes of injury are included, the figure may reach one billion dollars. The neurosurgeon is specifically trained to undertake the management of all forms of neurological trauma; however, in Australia, and in many other countries, only a small minority of such injuries receive neurosurgical care. This is chiefly because the number of neurosurgeons at present available is small in relation to the tasks. Many cases must therefore be in the care of general or orthopaedic surgeons, especially in country centres, and it is important that these surgeons should have some basic neurosurgical training. The Neurosurgical Society of Australasia wishes to formulate a programme to ensure that opportunities for such training are available throughout Australia. This programme should also embody a national plan for research into the treatment and prevention of neurological trauma.
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A retrospective survey has been made of forty children with spinal tumours. Difficulties in establishing the correct diagnosis are mentioned and the value of radiological and cerebrospinal fluid investigations discussed. The major orthopaedic disabilities are spinal deformity or instability, and paraplegia. The main factor in the development of the former is the site of laminectomy: the higher the level the greater is the likelihood of deformity or instability developing. Measures to prevent this distressing complication are discussed. The role of the orthopaedic surgeon in the management of these children is emphasised.
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Three hypothyroid children with premature craniosynostosis are presented, who have been treated intensively with 1-thyroxine from early infancy. It is postulated that the craniosynostosis is the result of iatrogenic hyperthyroidism during a critical period of skull growth. Various regimens of treatment for hypothyroidism are discussed with recommendations for avoiding this potentially hazardous complication of therapy.
Three cases of Dandy-Walker syndrome associated with congenital heart defects are reported, and their management is described. The various theories concerning the aetiology of the Dandy-Walker syndrome are discussed and it is suggested that the theory of primary developmental atresia of the foramina of Magendie and Luschka is still acceptable. If the child with Dandy-Walker syndrome requires treatment by extracranial CSF drainage it is proposed that a ventriculo-peritoneal shunt is preferable when there is any suspicion of cardiac anomaly. The proximal catheter should be placed in the posterior fossa cyst (dilated fourth ventricle) rather than in the lateral ventricle.
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