Perinephric abscess (presenting as abdominal pain) due to Listeria monocytogenes

The development of a haematoma after wide excision of breast tumours is not uncommon. Suction drainage is commonly used to prevent this but often increases the hospital stay and can create unsightly wounds. Argon beam coagulation is a new technique which permits large 'raw' areas to be coagulated with minimal tissue damage. We believe that this technique may reduce the development of haematomas and seromas after breast surgery. We present our initial results using argon beam coagulation after wide excision of breast tumours in 80 patients without suction drainage. One patient required a single aspiration of a seroma at the site of breast lump excision and none required surgical drainage. Argon beam coagulation appears a useful adjunct in breast surgery and may help reduce hospital stay.     

Infant death rates in Queensland, 1962 to 1972

Published statistical material has been used to analyse the infant death rate in Queensland. The neonatal death rates, which tend to reflect the level of obstetric care, were approximately twice as high in the Peninsula Division as in Brisbane, and the late infant mortality rate was almost eight times as high in the Peninsula Division as in Brisbane. In the Peninsula there has been no fall in infant death rate over the 11 years studied. One small area had an infant mortality rate of 100 deaths per 1,000 live births. The areas with the highest infant death rates were those with a significant Aboriginal population. The data show that proximity to major health facilities does not ensure low infant death rates and in the Brisbane Metropolitan Division there were threefold differences in late infant death rates. It seems likely that infant death rates are influenced by the economic status and education of parents and by the priority they place on infant care. The study has shown that published statistical data can detect areas within Queensland with high infant death rates, and could therfore be used to direct resources to improve the well-being of infants in these areas.     

Sj?gren's syndrome presenting as hypokalemic paralysis due to distal renal tubular acidosis

A 57-year-old woman presented with a flaccid paralysis, muscle tenderness, and respiratory depression. Laboratory results demonstrated severe hypokalemia with hyperchloremic metabolic acidosis and abnormally acidified urine. The urinary anion gap was positive in the presence of acidemia, thus establishing the diagnosis of distal renal tubular acidosis (DRTA). The patient fully recovered after potassium and alkali replacement. Further investigation revealed Sj?gren's syndrome as the underlying cause of DRTA.     

Dystonic reaction to a phenothiazine presenting as Bell's palsy

An 11-year-old boy presented to the pediatric ED with signs and symptoms of Bell's palsy, which was believed to be a result of otitis media. He subsequently began to list to the left and could not walk erect. Because of a history of prochlorperazine use for vomiting, a diagnosis of a dystonic reaction to a phenothiazine was made, and the patient was treated with intravenous diphenhydramine. All symptoms resolved, including seventh nerve palsy, within 5 minutes of treatment. Medications are often prescribed by physicians for vomiting without caretakers being aware of the side-effects. Dystonic reactions can be severe and present with myriad neurologic signs and symptoms.     

Wandering spleen presenting as duodenal obstruction after repair of congenital diaphragmatic hernia

The most common presentation of the wandering spleen in children is torsion with infarction. Duodenal obstruction by the spleen has not been reported previously. Wandering spleen can accompany congenital diaphragmatic hernia (CDH) because of its loss of retroperitoneal fixation. If absence of normal splenic fixation is found during repair of CDH, splenopexy should be performed to eliminate the risk of torsion, infarction, or, as described here, duodenal obstruction.     

Pancreatitis and severe metabolic abnormalities due to phenformin therapy

Two elderly diabetic patients with abdominal pain were demonstrated to have complications of phenformin hydrochloride therapy. The first developed severe lactic acidosis treated with sodium bicarbonate given intravenously and followed by rebound alkalosis. The second showed severe acidosis (specimens for lactate determination were unfortunately unsatisfactory for analysis) and similar alkalotic rebound after therapy. She then developed severe pancreatitis, proved at operation, no cause for which other than phenformin was apparent. Poor renal and hepatic function predispose to these conditions by increasing serum phenformin levels and by decreasing urinary excretion of its metabolites. The acidosis should be treated judiciously with sodium bicarbonate administered intravenously. A rebound alkalosis, ensuring as the accumulated lactate is metabolized, is best treated by potassium chloride and ammonium chloride given intravenously. The mechanism by which phenformin causes pancreatitis is unknown, but termination of therapy causes cessation of the pancreatitis.     

Sudden death as a presenting symptom of hypertrophic cardiomyopathy: treatment with an implantable cardioverter defibrillator

Aborted sudden death as the presenting manifestation of hypertrophic cardiomyopathy in a 14-year-old child is reported. Documented ventricular fibrillation was the cause of cardiac arrest. No ventricular arrhythmia was induced during programmed electrical stimulation. An implantable cardioverter-defibrillator was indicated. As the patient had a family history of myocardial disease, he had undergone a cardiovascular evaluation 4 years before the major event, and was found normal. It is suggested that normal physical examination, ECG, echocardiogram should not rule out the diagnosis of hypertrophic cardiomyopathy when a family history is present. Left ventricular hypertrophy may develop during childhood in patients with hypertrophic cardiomyopathy.     

Unexpected death due to gestational choriocarcinoma: a report of two cases

The clinical and pathological manifestations of severe intestinal involvement in Wegener's granulomatosis were studied by a review of the literature and reports of two patients. Altogether, six cases, two females and four males, were studied. One patient developed two episodes of bowel manifestations necessitating immediate surgical interventions. The average age at onset of intestinal symptoms was 43.3 yr (26-55 yr) and, in all cases, the first signs of such manifestations developed within the first 2 yr of disease. Prior to the onset of intestinal symptoms, immunosuppressive therapy was administered in six of seven instances. Acute abdominal pain with signs of peritonitis or distention only constituted the main clinical picture in six of the seven events. The last episode was manifested clinically with profuse diarrhoea with blood and mucus. Of the seven instances of severe intestinal manifestations, the small bowel was involved in two, the large bowel in three, and both the small and large bowel were affected in two episodes. Histological evidence of vasculitis in the bowel was demonstrated in three of the seven biopsy specimens, while in four, ischaemia, inflammation and ulceration were the pathological findings. Intestinal perforation was seen four times and surgery was performed in six of seven episodes. Severe intestinal involvement is rare in Wegener's granulomatosis. The initial bowel manifestations occur within the first 2 yr of disease, and affect both the large and small bowel. Histologically, vasculitis, ischaemia, inflammation and ulceration are the prevailing findings. Death due to intestinal catastrophy occurred in one of the six patients reported. Most likely, the manifestations are associated with the disease process rather than related to the use of immunosuppressive agents.     

Diagnosis on death certificates of sudden death due to ischemic heart disease

This study was undertaken to evaluate the quality of diagnoses of sudden death (SD) caused by ischemic heart disease (IHD) on death certificates. A random sample of 10% (100 cases) was drawn from all such deaths which occurred in 1970 among Oklahoma City residents. The medical records of each case were reviewed and the quality of the diagnosis was rated, by the use of predetermined standard criteria, as confirmed and valid or unconfirmed and invalid. Among 100 IHD deaths, SD constitute 45%. Of these SDs, 18% were unobserved, without information as to the manifestations of the attack or the interval from onset of symptoms to death. According to criteria of the American Heart Association and WHO Expert Committee, the diagnosis in this 18% was unconfirmed and invalid. Thus there is insufficient quantitative evidence to justify the use of SD, as found on death certificates, as an indication of frequency of ischemic heart disease.     

Nuclear morphometry of the myocardial cells as a diagnostic tool in cases of sudden death due to coronary thrombosis

One general signalling mechanism used to transfer the information delivered by agonists into appropriate intracellular compartments involves the rapid redistribution of ionised calcium throughout the cell, which results in transient elevations of the cytosolic free Ca2+ concentration. Various physiological stimuli increase [Ca2+]i transiently and, thereby, induce cellular responses. However, under pathological conditions, changes of [Ca2+]i are generally more pronounced and sustained. Marked elevations of [Ca2+]i activate hydrolytic enzymes, lead to exaggerated energy expenditure, impair energy production, initiate cytoskeletal degradation, and ultimately result in cell death. Such Ca(2+)-induced cytotoxicity may play a major role in several diseases, including neuropathological conditions such as chronic neurodegenerative diseases and acute neuronal losses (e.g. in stroke).     

Rosai-Dorfman disease presenting as a meningioma

This report documents an unusal case of extranodal sinus histiocytosis (Rosai-Dorfman disease) which produced a solitary intracranial mass lesion that was diagnosed clinically and radiologically as a meningioma. Morphological features have been described and literature extensively reviewed.     

Pseudolymphoma presenting as a cecal tumor

A 7-yr-old with abdominal pain and melena had a barium enema which revealed a cecal lesion that proved to be a pseudolymphoma of the cecum and appendix--a site not previously reported.     

Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21-Hydroxylase deficiency is one of the most common inherited disorders, with carrier frequencies of approximately 10% in all world populations studied to date. The high prevalence of the mutant gene is probably due to a flanking pseudogene serving as a reservoir for mutations. Despite the potential for a high rate of de novo mutations, a founder effect for specific gene conversions is observed in most populations. We hypothesized that there was a survival advantage to 21-hydroxylase heterozygotes, and here we report endocrinological and molecular investigations to test this hypothesis. We defined 28 carriers and 22 mutation-negative controls by molecular genotyping and determined ACTH-stimulated adrenal hormone responses. We found significantly elevated cortisol responses in the carriers compared to controls (30 min cortisol levels: normal, 24.2 +/- 4.6 micrograms/dL; carrier, 28.1 +/- 4.2 micrograms/dL; P < 0.005). Cortisol has a crucial role in maintaining homeostasis, influencing differentiation, suppressing inflammation, and effecting cross-talk among the immune, nervous, and endocrine systems. The brisk cortisol response we have documented in carriers of 21-hydroxylase may enable a rapid return to homeostasis in response to infectious, inflammatory, or other environmental stresses and may protect from inappropriate immune responses, such as autoimmune diseases.     

Severe bronchial hyperreactivity as a sequel to congenital diaphragmatic hernia

Bronchial hyperreactivity may be a sequel to congenital diaphragmatic hernia (CDH). V/Q-mismatch in these patients may aggravate the condition. A case history is presented of a 20-month-old girl, who on the second day of life survived surgery for a left CDH. Adrenaline intratracheally via the nasotracheal tube was given to break a condition of refractory bronchospasm and desaturation. In the case of refractory bronchospasm and desaturation adrenaline may be helpful due to its alpha-receptor stimulation as this may inhibit bronchoconstriction, improve the V/Q mismatch and reduce pulmonary vascular resistance and mucosal swelling.     

Bilateral deafness due to congenital CMV and not rubella reinfection

Two cases of autosomal recessive nephrogenic diabetes insipidus (NDI) were evaluated. Both cases were found to be compound heterozygote for missense mutations in the aquaporin-2 (AQP2) gene. To determine the structural-functional relationship, the mutated AQP2 proteins, T125M, G175R, A190T, and P262L, were expressed in Xenopus oocytes and examined by measurement of water permeability, immunoblot, and immunocytochemistry. Our results suggest that T125M and G175R are nonfunctional water channels, whereas the translocation to the plasma membrane is impaired in A190T and P262L.     

Neonatal skin lesions due to a spirochetal infection: a case of congenital Lyme borreliosis?

A 73-year-old female developed middle meningeal arteriovenous fistula during embolization of a falx meningioma. The cause of this complication was thought to be perforation by the guide wire during catheterization at the sharp bend in the sphenoidal portion of the middle meningeal artery. Embolization of the fistula and the feeding artery to the meningioma with polyvinyl alcohol particles 250-355 microns size resulted in complete obliteration of the fistula. Computed tomography showed no epidural or subdural hematoma. Introduction of the microcatheter beyond the sharp bend in the middle meningeal artery should not be attempted to avoid the possibility of iatrogenic middle meningeal arteriovenous fistula.