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Biomedical subjects

A J Bourne

Publications and source records attributed to A J Bourne.

At least 19 recordsLinked to original sources

Gangliogliomas in childhood.

Ganglioglioma is a tumour of the central nervous system composed of an admixture of dysplastic nerve cells resembling pleomorphic ganglion cells, and glial elements, which may be astrocytic and/or oligodendroglial in appearance. A series of 12 patients aged between 9 months and 15 years 9 months, all of whom had suffered epilepsy refractory to medical treatment for up to 8 years, is presented. Computed tomographic and magnetic resonance scans were of prime use in localisation of the tumours. Calcification was noted preoperatively in 4 of 12 cases. The majority of patients obtained at least partial relief from symptoms after complete or partial resection. Histologically, 11 of the tumours included grade 1 astrocytic elements and the remaining one exhibited grade 2 areas. The diagnosis of ganglioglioma should be suspected in a child with refractory, long-standing epilepsy. Prognosis of these tumours is determined by the astrocytic component; if this is of low grade, surgical excision may result in marked symptomatic improvement or cure.

Adolescent

Trabecular and solid-cribriform types of basal cell adenoma. A morphologic study of two cases of an unusual variant of monomorphic adenoma.

Monomorphic adenomas are a morphologically complex group of salivary gland tumors. Two unusual examples, one a trabecular and the other a solid form of basal cell adenoma, reveal the development of a cribriform growth pattern focally in the former example and diffusely in the latter. They illustrate the potential for cellular differentiation within this subgroup, organization of synthetic products by the tumor cells, and the histologic criteria useful for the distinction of basal cell adenoma from adenoid cystic carcinoma.

Adenoma

Clostridium botulinum and sudden infant death syndrome: a 10 year prospective study.

It has been proposed that sudden and unexpected death in infants due to intestinal infection with Clostridium botulinum may mimic the clinicopathological features of sudden infant death syndrome. Between 3.3 and 3.8% of infants in some series have had this neurotoxin-producing bacterium isolated on faecal culture. Prospective screening of 248 infants presenting with the sudden infant death syndrome to the Adelaide Children's Hospital over a 10 year period from 1981 to 1990 was conducted. Faecal samples were obtained from both small and large intestines and cultured specifically for C. botulinum. No samples were positive. The results of this study suggest that routine post-mortem culture of faeces for C. botulinum has been of limited use within the South Australian infant population over the last decade, and that occult botulism has not been a significant factor in the causation of sudden death.

Botulism

The spectrum of presentation at autopsy of myocarditis in infancy and childhood.

To characterize the clinicopathological presentation of patients with myocarditis coming to autopsy in childhood, 32 cases of histologically-proven myocarditis were obtained from the files of the Adelaide Children's Hospital. In 16 of the cases (Group A), myocarditis was the only significant finding and death was ascribed to this condition. In the remaining 16 (Group B) myocarditis was found in association with other severe disease processes. Clinical histories of the 2 groups showed sudden death to be a feature in 5 out of 16 cases in Group A, 3 of whom had no prodromal symptoms. Five patients in Group B also suffered sudden death, but this was associated with a variety of causes, including bronchopneumonia, and asphyxia. These cases demonstrate the variability in clinicopathological presentation of myocarditis in infancy and childhood and suggest that myocarditis should always be considered a possible diagnosis at autopsy in the pediatric age group, even in the presence of coincident lethal disease.

Adolescent

Cot death.

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Causality

Sudden death in early infancy due to delayed cardiac tamponade complicating central venous line insertion and cardiac catheterization.

Cardiac tamponade is an unusual cause of sudden death in the first weeks of life. We present two cases of cardiac tamponade in the neonatal period that caused death 5 to 6 days following the insertion of intracardiac lines, to draw attention to the possibility of a "delay phenomenon" between the time of the initial procedure and the occurrence of sudden and unexpected death. The presence of blood or clear fluid within the pericardial sac should prompt careful examination of the myocardium for small foci of traumatic damage, particularly when the fluid is under pressure or of large volume. Although the development of circulatory impairment or shock in the days following central line insertion or catheterization raises the possibility of tamponade, it should be noted that sudden death may occur in the absence of any significant antemortem symptoms or signs.

Cardiac Catheterization

Congenital ossifying fibroma (osteofibrous dysplasia) of the tibia--a case report.

Ossifying fibromas of the long bones of the leg are benign lesions occurring in the pediatric age group identical in histological appearance to the similarly named tumor of the jaw in adults. Most frequently presentation occurs after minor trauma with symptoms of a swelling of the tibia or fibula which may be painful. Pathological fracture or limp are also occasional presentations. Congenital cases are extremely rare. We describe an otherwise normal male neonate who presented at birth with a bowed right lower leg. The limb was 1 cm shorter than the other side, with tibia vara and a firm mass situated anteriorly. X-ray showed a mixed lytic and sclerotic lesion in the proximal metaphysis of the tibia. Biopsy showed collagenous stroma containing spindle cells and irregular trabeculae of woven bone rimmed by plump osteoblasts. As the appearances were typical of an ossifying fibroma (osteofibrous dysplasia) no surgical treatment was given. The patient was well with no growth of the tumor and with radiological evidence of healing at 1 year follow up. This case is presented to draw attention to the clinicopathological features of this unusual lesion which must be considered in the differential diagnosis of congenital lesions of the tibia.

Bone Neoplasms

Death during immersion in water in childhood.

Drowning is a relatively common cause of accidental death in children. Autopsy records at the Adelaide Children's Hospital over a 27-year period from 1964 to 1990 were examined, and 58 cases were found where the cause of death was listed as drowning. In six cases, however, careful examination of the history and postmortem findings provided important additional information that suggested a more complex antemortem sequence of events. Specifically, four patients aged between 6 years, 10 months and 11 years were known to have had epilepsy. A further patient, an 8-year-old boy, died from a subarachnoid hemorrhage due to a bleeding cerebral arteriovenous malformation while swimming. The final patient, an 11-year-old boy who collapsed in a public swimming pool, was found at autopsy to have marked hypoplasia of the right coronary artery. In this series, six of 58 (10.3%) of the pediatric cases had additional underlying medical problems that could either have initiated the drowning episode or caused death due to alternate mechanisms. We present the clinicopathological findings in detail to demonstrate that a high index of suspicion must be maintained in all cases of pediatric drowning, not only for unnatural causes of death but also for additional natural disease processes that may have contributed significantly to the fatal episode. These findings may have particular relevance in jurisdictions where full postmortem examination is not always required by law.

Accidents

Testicular regression syndrome--a pathological study of 77 cases.

Testicular regression syndrome is characterized by a rudimentary epididymis and spermatic cord with absence of testicular tissue. Although it has been well-described in the surgical literature, few pathological studies have been performed. We report 77 cases of the syndrome, deriving from a 26-year retrospective review. Typical gross descriptions described several cm of spermatic cord with a small mass of firm, fibrotic tissue at one end; elements of the vas deferens, spermatic artery and venous plexuses were usually present. Histologically, the distal expansion of most of the specimens was composed of dense fibrovascular tissue with no evidence of seminiferous tubules or normal testicular elements. Instead, scattered foci of calcification and brown pigment were present. The finding of dystrophic calcification and haemosiderin deposition, with no evidence of viable testicular tissue, in the presence of relatively normal spermatic cord elements, supports the concept of generally unilateral and occasionally bilateral anorchia secondary to remote infarction. The young age of the patients, coupled with the history of an absent testis from birth, is supportive of in utero damage. These histopathological findings provide support for the concept of in utero torsion of the testis as the basis for the testicular regression syndrome.

Adolescent

Two unusual tumours of the gastrointestinal tract in a patient with tuberous sclerosis.

A 16 year old girl with an established diagnosis of tuberous sclerosis presented with a 1 year history of swelling of the left cheek. A 2 cm diameter tumour was excised which showed histological features of a solid variant of a minor salivary gland basal cell adenoma. One year later during laparotomy and excision of multiple renal angiomyolipomas, a 5 cm diameter subserosal tumour was found at the hepatic flexure of the colon. Examination of biopsy material revealed a leiomyoma. This case is presented to demonstrate two tumours that have not to the authors' knowledge been previously described in a young patient with tuberous sclerosis. Although the association may be coincidental, these tumours could represent two rare associations of tuberous sclerosis.

Adenoma

Cardiac echinococcosis with fatal intracerebral embolism.

A previously well 7 year old boy presented with sudden loss of consciousness and fitting. No evidence of trauma or space occupying lesion was identified. Death occurred the next day due to cerebral infarction caused by embolised fragments from a ruptured left ventricular hydatid cyst that was found at necropsy.

Cardiomyopathies

Adrenal cortical tumors in childhood--clinicopathological features of six cases.

Six cases of adrenal cortical tumors are presented with a discussion of the clinical features and histological findings. Five of the 6 children, aged between 6 mths and 6 yrs, presented with symptoms of hyperadrenalism, 4 with virilization and 1 with Cushingoid features. The remaining infant presented with an asymptomatic abdominal mass. In each case there was a unilateral tumor separated from the residual adrenal gland by a thin fibrous capsule. Surgical resection was the treatment employed and, in the 5 cases with functional tumors, perioperative hydrocortisone was given. None of the children received post-operative chemotherapy or radiotherapy. Bizarre cellular morphology, a high mitotic count and extensive necrosis were all seen in clinically benign disease, demonstrating not only the efficacy of local resection but also the difficulty in applying the usual histological criteria of malignancy to these pediatric adrenal tumors. At follow-up, 5 of the 6 patients are alive with no evidence of recurrent disease. The only death resulted from measles pneumonitis in the 1 child who presented with Cushing's syndrome.

Adrenal Cortex Neoplasms

Anomalous coronary arteries arising from the aorta associated with sudden death in infancy and early childhood. An autopsy series.

Anomalous coronary arteries arising from the aorta are a recognized cause of myocardial ischemia and sudden death. Death has been precipitated by exercise in most cases. We present the results of an autopsy study in which sudden and unexpected deaths associated with coronary anomalies were found in three children (less than 2 years of age). In two cases, death was not associated with exercise. In two case, the myocardium was morphologically normal, and in the third case, there was an extensive recent anterior myocardial infarct with a background of established fibrosis. Coronary artery anomalies may be easily overlooked in this age group because of small vessel size and difficulty in dissection; this is particularly so when there are normally placed ostia. One consequence of this is potential for confusion with sudden infant death syndrome.

Aorta

Incidental cardiac rhabdomyomas: a significant finding necessitating additional investigation at the time of autopsy.

Cardiac rhabdomyomas are rare lesions forming part of the tuberous sclerosis complex that may be responsible for sudden death. As well as remaining clinically occult for variable periods of time, they may, along with other manifestations of tuberous sclerosis, be quite difficult to detect clinically and pathologically. A patient is described in whom multiple cardiac rhabdomyomas were an incidental finding at autopsy following fatal potassium fluoride poisoning. Other gross pathological lesions typical of tuberous sclerosis were present but were quite subtle in appearance. Awareness of the association of cardiac rhabdomyomas with tuberous sclerosis is important so that full examination of organ systems for characteristic lesions can be undertaken during the autopsy, and so that fresh and frozen tissue can be obtained at the time of dissection for further investigation.

Cerebral Cortex

Association of right coronary artery hypoplasia with sudden death in an eleven-year-old child.

Congenital coronary artery abnormalities are a rare but well-documented cause of sudden and unexpected death in the pediatric age group. Most reported cases involve both an aberrant origin and course of the abnormal vessel. A case of unexpected death occurring in an otherwise healthy eleven-year-old boy, who had been previously investigated for sudden collapse, is described. The major finding at autopsy was marked disparity in diameter between the coronary arteries due to diffuse hypoplasia of the right coronary artery. This case demonstrates the importance of meticulous examination of the coronary artery system in cases of sudden death in childhood so that significant reduction in luminal cross section will be adequately documented. The possible role played by this finding in the etiology of sudden death is discussed.

Child