Truth after death

Diagnosis is central to medicine. In spite of tremendous diagnostic technological advances, no infallible test exists and in the complex diagnostic process the physician may well get lost. The ultimate feedback on the accuracy of diagnosis is the autopsy. Five patients illustrate that the autopsy may disclose unexpected results. The first patient was a 9-year-old girl who suffered from daily abdominal spasmodic pain but each time recovered. She died suddenly; autopsy revealed intestinal intussusception. A 46-year-old man who was treated for hypertension developed pain in the chest and the lower back, but there were no other signs of myocardial infarction. He died suddenly; autopsy revealed a dissecting aortic aneurysm with rupture in the left pleural cavity. A 21-year-old woman, an excellent swimmer, drowned during a swim in the sea. Autopsy revealed severe widespread coronary disease with multiple myocardial infarction. A 32-year-old Surinam woman developed acute coma and died from cardiorespiratory arrest. At autopsy she had massive pulmonary embolism and generalized lymphadenopathy due to sarcoidosis. The last patient, a 32-year-old woman suffered from fatigue after her fourth child was born. She was admitted with severe dyspnoea and her chest X-ray showed interstitial fibrosis. She died presently and autopsy revealed metastatic colon carcinoma with pulmonary lymphangitis carcinomatosa. Systematic reviews of the results of autopsies show no decline in the percentage of false diagnoses and/or unexpected findings in spite of the enormous growth of the diagnostic armamentarium. Although we may radiologically 'slice' the body in incredible detail or investigate human cells at the molecular level, the autopsy has by no means become obsolete and is an invaluable tool for quality control and teaching.     

Invasive pulmonary aspergillosis soon after therapy with infliximab, a tumor necrosis factor-alpha-neutralizing antibody: a possible healthcare-associated case?

BACKGROUND: Infliximab is a chimeric monoclonal antibody against tumor necrosis factor (TNF)-alpha, used for the treatment of Crohn's disease and rheumatoid arthritis. Recently, an increased risk of infection due to Mycobacterium tuberculosis and rare cases of invasive fungal disease have been reported following infliximab therapy. CASE REPORT: A 73-year-old woman with chronic rheumatoid arthritis who had been treated with methotrexate, leflunomide, and prednisone was given the first of three doses of infliximab in June 2001. In July 2001, she presented with cough, and in August, she had a right upper lobe infiltrate that was treated with levofloxacin without improvement. In October, the patient had right upper and middle lobe infiltrates on a chest X-ray and computed tomography scan. At bronchoscopy, an endobronchial mass was biopsied, which demonstrated Aspergills fumigatus. Our patient had frequently accompanied her daughter on visits to another medical center following a stem cell transplant, where her daughter was instructed to wear a mask during all visits because of extensive building construction. We postulate that our patient may have acquired pulmonary aspergillosis during this period. Literature reviews on granulomatous diseases following infliximab therapy and hospital-acquired aspergillosis are presented. CONCLUSION: The temporal relationship between the administration of infliximab and A. fumigatus infection in this patient suggests a causal relationship and possible healthcare-associated acquisition. These data underscore the importance of both patient and family education on prevention strategies when potent immune-modulating medications such as infliximab have been prescribed.     

Primary pulmonary hypertension: new treatment options

Primary pulmonary hypertension (PPH) is a rare, progressive and life-threatening pulmonary vascular disease of unknown aetiology, which results in elevated pulmonary vascular resistance, pulmonary hypertension and eventually right ventricle failure. PPH occurs in all age groups, but most frequently in women aged 20-30 years old. The mean survival after the onset of symptoms is 2-3 years. Although the disease remains incurable at present, major advances in treatment options have been made during the last 10 years. This had led to a considerable improvement in extended survival and the quality of life in a substantial number of PPH patients. At present the most important treatment options include anticoagulants, calcium channel antagonists, chronic prostacyclin therapy (cost of this only reimbursed by health insurers in the Netherlands since 1999) and if needs be lung or heart-lung transplantation. Chronic continuous intravenous administration of epoprostenol is burdensome for the patient and requires adequate patient selection and a well-developed intramural and extramural infrastructure.     

A patient with pulmonary edema following use of beta-sympathomimetics (tocolytic agents)

During her pregnancy (29 weeks) a 29-year-old woman complained of pain in the right upper quadrant of her abdomen. Gallbladder stones were demonstrated by ultrasonography. Because of recurrent pain attacks cholecystectomy was performed. Continuous intravenous tocolytic therapy, fenoterol bromide (Parusisten), was given during and following surgery. Two days after this first laparotomy she underwent a second laparotomy because of unexplained abdominal pain and blood loss. A subhepatic haematoma was found without a specific origin for the blood loss. Shortly after this second operation she developed clinical signs and abnormalities on the chest X-ray compatible with severe pulmonary oedema. She needed artificial ventilation for 15 days. There appears to be a pathophysiological relationship between the development of pulmonary oedema and tocolytic therapy. Probably, pulmonary oedema may develop during tocolytic therapy as a result of several factors such as increased hydrostatic pressure, decreased oncotic pressure and perhaps capillary leakage.     

Intravenous thrombolytic therapy: ideal treatment for acute ischemic stroke

In four patients with symptoms of presumed acute ischaemic stroke intravenous treatment with recombinant tissue plasminogen activator (rtPA) was considered. Two patients indeed received rtPA within 3 hours after onset of symptoms. One of them, a 55-year-old woman, recovered and was able to resume her job as a teacher four months later. The other patient, a 38-year-old man, had a severe bleeding complication that could be stopped, but the patient died several days later because of the massive stroke. The third patient, an 82-year-old woman, could not be treated with rtPA because the time of onset of neurological deficit was uncertain. Nevertheless, she recovered well from her hemiplegia after a few days. The fourth patient, a 24-year-old woman, did not receive rtPA because her symptoms were thought to be the result of a psychogenic disorder. Intravenous thrombolysis increases the risk of intracranial haemorrhage, but should be considered a useful treatment for ischaemic stroke provided there is no doubt about this diagnosis and treatment with rtPA can be started within 3 hours of onset of the neurological deficit.     

MRI and neuropsychological correlates of carbon monoxide exposure: a case report

A 45-year-old woman experienced long-term, chronic exposure to carbon monoxide in the restaurant kitchen where she was employed as a cook. After returning to the restaurant after 5 days off work, she noticed that her symptoms returned immediately; she then aired out the room and called the gas company. Approximately 6 hr after a leak was detected, the patient went to the hospital, where her carboxyhemoglobin was found to be within normal limits and results of a neurologic examination were described as normal. Based on her symptoms, the patient believed she had been exposed to CO for at least 1 year before the leak was discovered. Initially, she experienced flu-like symptoms, which eventually resolved. At the time of her first neuropsychological evaluation (17 months after the exposure was identified), her persisting complaints included difficulties in reading, writing, speaking and word retrieval. The test results were consistent with secondary frontal lobe dysfunction associated with subcortical disorders such as those seen after CO exposure. Results of a subsequent neuropsychological examination (29 months postexposure) showed slight improvement in performance, but her performance was still consistent with mild frontal/subcortical dysfunction. Although the initial screening of a brain magnetic resonance image (MRI) performed 15 months after the exposure was interpreted as being within normal limits, two subsequent blind reviews of the same scans identified multiple bilateral lesions in the basal ganglia, which were consistent with chronic CO exposure. We present this case as an example of the utility of MRI and neuropsychological examinations in detecting central nervous system dysfunction secondary to CO exposure.     

Dyspnea after pneumonectomy due to atrial septum defect

A 55-year-old woman presented with complaints of recurrent dyspnoea one year after pneumonectomy carried out as treatment for a tumour of the left lung. During several months her symptoms progressed and eventually mechanical ventilation became necessary. On admission a patent foramen ovale was found with transoesophageal ultrasound but this was judged not to be the cause of her symptoms. The pulmonary angiogram showed a intracardiac shunt with no intrapulmonary shunts. After repeated transoesophageal ultrasound a second defect was found of a sinus venosus type. This large defect was proven to be clinically significant during catherisation of the heart, when occlusion with a balloon was performed. After surgical repair of these defects with an artificial patch, the patient recovered well. Since then she has been without complaints.     

Catamenial pneumothorax: a case report and review of the literature

A 39-year-old woman presented with the chief complaint of right-sided chest pressure and shortness of breath with dry cough for 3 days. These symptoms coincided with the onset of her menstrual cycle. Her physical examination was significant for decreased breath sounds at the right lung base. Her chest x-ray showed a moderate sized right pneumothorax extending from the apex to the lung base and a small amount of pleural fluid, findings that were verified by chest CT. The patient was seen by consultants from the pulmonary, obstetrics/gynecology, and thoracic surgery services, who agreed that the clinical diagnosis was catamenial pneumothorax, probably associated with thoracic endometriosis. The patient was discharged on levonorgestrel/ethinyl estradiol tablets, which she opted not to take. Three months later, she had similar symptoms that occurred again at the time of menstruation. Her chest x-ray now showed a 10% right-sided pneumothorax. Catamenial pneumothorax is a rare condition affecting women in their reproductive years. Women with this condition most commonly have right-sided pneumothorax. The proper diagnosis is based on being aware of the existence of this relatively rare condition and relating the symptoms of pneumothorax temporally to the menses.     

Prolonged survival in a female with untreated tetralogy of Fallot

It has been reported that most patients with untreated tetralogy of Fallot (TOF) die by the time they reach adulthood. We report the case of a 72-year-old female diagnosed by echocardiography and cardiac cathetherization as having TOF and diagnosed at birth with a ventricular septal defect (VSD). During childhood, she was very thin and lacking in physical strength. On first consultation at our hospital, she was suffering from mild dyspnea, classified as NYHA functional class III, and her fingers were clubbed and cyanotic. Her PaO2 was 48.0 mmHg under room air, and hypoxia was recognized. An echocardiography and cardiac cathetherization showed a VSD, hypertrophy of the right ventricle, over-riding of the aorta and stenosis of the right ventricular outflow tract with a pressure gradient of 84 mmHg. There was a bidirectional shunt with 24% flow from the left to right and 43% from the right to left ventricle. Her Qp/Qs was 0.75. Surgical treatment was recommended. However, the patient refused, because her symptoms were alleviated with home oxygen therapy. This report shows the prolonged survival of this 72-year-old female with untreated TOF.     

Late postinfarction rupture of the interventricular septum

Postinfarction ventricular septal rupture complicates 1 to 2% of cases of acute myocardial infarction and accounts for 5% of early mortality. This severe complication usually occurs within two weeks after acute myocardial infarction, and the elderly are more susceptible. We present a case of late rupture of the septum. Case report: In a 75-year-old man, a ventricular septal defect developed more than two months after an extensive inferoseptal myocardial infarction due to occlusion of the right coronary artery. After more than two months of no symptoms he was referred to hospital due to symptoms of right ventricle failure. The diagnosis was made by echocardiography, pulmonary artery catheterization and ventriculography. Coronarography was also performed. Intraaortic balloon pump was introduced and the patient was transferred to the operating room. The defect was repaired using a circular polytetrafluoroethylene patch supported by buttressed interrupted sutures from both sides. Due to significant mitral valve regurgitation mechanical bileaflet mitral valve was implanted with preservation of the entire mitral apparatus and the left descending artery was revascularized using a saphenous graft. Conclusion: This case is reported to emphasize that later postinfarction rupture of the ventricular septum may occur with symptoms of right ventricle failure dominating the clinical course.     

The adrenocortical carcinoma, a tumour of wide clinical diversity

Over the course of a few years, an obese 52-year-old woman with a 23-year history of hypertension developed a number of abdominal complaints including gall stones. Her blood pressure became increasingly difficult to control and she developed diabetes mellitus and suffered palpitations and headaches. It became noticeable that she had a moon face. Laboratory tests revealed hypercortisolism. CT-scan showed a large inhomogeneous mass of nine centimetres in her left adrenal gland, which was subsequently removed surgically. The histopathological diagnosis was consistent with an adenoma. After a number of months the patient developed bone and liver metastases and the diagnosis was amended to carcinoma of the adrenal cortex. She then underwent radiotherapy and chemotherapy treatment. One year after surgery she developed a pancytopenia and died. Adrenocortical carcinomas are rare tumours with an incidence of about 1-2 cases per million of the population. Symptoms are heterogeneous since both functional (hormonal overproduction) and non-functional (mass effect) tumours exist. Surgical resection is the only curative therapy. It may be difficult to distinguish between benign and malignant cortical tumours.     

Woman jailed for failing to stop husband from raping her daughter

Brenda Colson was sentenced to four years in jail after witnessing her HIV-positive husband rape her seven-year-old daughter. Colson, at the time, thwarted her 10-year-old son's attempt to call the police. The rape, which resulted in the HIV infection of her daughter, occurred just three hours after Colson married Frank Bridges. The Superior Court Judge felt Colson deserved a more severe penalty because she failed to protect her daughter from the danger posed by Bridges' daily drug use and bizarre behavior. Bridges pleaded guilty last June to five felony counts of rape and child molestation. He is serving a 38-year prison sentence.     

Nicergoline-induced Prinzmetal angina. "Heartache" instead of headache

A 56 year old woman was admitted to our hospital with crescendo chest pain in the last ten days. Her past history included hypertension treated by 100 mg metoprolol for more than ten years and right carotid endarterectomy. She complained headache and a treatment of 20 mg nicergoline (ergoline derivate) daily was started. Her chest pains started always one hour after the nicergoline intake. The chest pain was accompanied by breathing difficulties and sweating of 5 min duration at first but the next days it lasted longer and longer. Next morning following her admission, one hour after the nicergoline administration she had severe chest pain again. The ECG showed ST-segment elevation in inferior leads resolved after nitroglycerin administration. The angiogram revealed normal coronary artery. Nicergoline was stopped. The patient was treated with felodipine and remains free of symptoms. Nicergoline was good for head but worse for heart in this case.     

A case of Korsakoff's syndrome improved by high doses of donepezil.

We present a case of Korsakoff's syndrome that was successfully treated with high doses of donepezil, an inhibitor of acetylcholine esterase, known to retard the progress of symptoms in Alzheimer's disease. The patient was a 46-year-old married Japanese woman who began to drink alcohol after she married. After several years of drinking she developed typical symptoms of the Korsakoff syndrome. Donepezil was started after treatment with thiamine or thiamine plus fluvoxamine had failed. Her amnestic symptoms as well as her quality of life improved markedly during donepezil treatment. Inhibition of acetylcholine esterase may be an effective treatment for Korsakoff's syndrome.     

Good medical care at the borderline of mental incompetence

A 73-year-old woman with minor intellectual skills had complaints which suggested a vulvar carcinoma. Despite her refusal she was examined and admitted to hospital, on the basis of good professional care. The psychiatrist examined her and judged her incompetent. For the operation of the diagnosed vulvar carcinoma a court ordered representative was obtained. Two months later she underwent radiotherapy to prevent local complications and pain and a few weeks thereafter she died. Because medical decision-making in a doctor-patient relationship is not always possible decision-making power should be assigned to a third party. That forms the basis of proper medical care.     

Diagnostic image (64). Epitheloid cell sarcoma of the heart

A 57-year-old woman with dyspnoea and near syncope had an epitheloid sarcoma in the right cardiac ventricle, with outgrowth in the pulmonary trunk.     

Pelvic inflammatory disease and an abscessed endometriosis cyst: a diagnostic problem and a therapeutic dilemma

A 52-year-old woman with known endometriosis was treated with a levonorgestrel-containing IUD for irregular vaginal blood loss. Two weeks later she was admitted with signs ofpelvic inflammatory disease (PID) and was treated with antibiotics. As no clinical improvement ensued, laparoscopy was performed which demonstrated an infected endometriosis cyst in her right ovary. Ovariectomy was performed. In a 29-year-old woman with a symptomatic endometriosis cyst in the right ovary, PID was also suspected. After an initially good response to antibiotic therapy her condition deteriorated. Laparotomy revealed an infected endometriosis cyst. It was drained with subsequent cystectomy. A third, 43-year-old, woman with known endometriosis was admitted with signs of PID. Although she had a good clinical response to antibiotic therapy, her C-reactive protein (CRP) level remained elevated. Diagnostic laparoscopy demonstrated a large abscess in the right ovary. Ovariectomy was performed. Histology showed signs of an infected endometriosis cyst. All these women presented with PID and, in addition, a cystic adnexal mass on ultrasonography. The incidence oftubo-ovarian and ovarian abscesses is higher in the presence of an endometriosis cyst. Irrespective of the presence of an endometriosis cyst, antibiotics should be the first line of treatment. Reduction in the size of the abscess is not a useful parameter for monitoring conservative treatment when an infected endometriosis cyst is present. If it is decided to perform surgery on the infected endometriosis cyst, drainage of the abscess is usually not sufficient: excision of the endometriosis cyst is the only adequate therapy.     

Successful conservative management in two patients with a tracheobronchial rupture

A 30-year-old woman with blunt chest trauma after falling from a horse appeared to have a haematothorax. Bronchoscopy showed a bronchial rupture of the posterior segment of the right upper lobe. As her condition was stable, a policy of expectant management was instigated. She recovered without problems. A 73-year-old woman with an ileus of the small intestine had, after several intubations, a tracheal rupture. Due to her poor condition a policy of conservative management was followed. The rupture healed in 2 months. The patient died due to her abdominal problems. Tracheo-bronchial ruptures are rare, mostly caused by blunt chest trauma or iatrogenic due to complicated intubations. Acute therapy involves the optimalization of ventilation. In certain selected cases following a policy of expectant management may be successful.     

A woman with Christmas in sight

A 70-year-old woman was referred because of vision deterioration of her right eye since several months. With optimal spheric correction of +2.50 in her right eye she had a vision of 0.7. The intraocular pressure was 10 mmHg. There were no abnormalities in the anterior chamber of the eye. The right eye did show a palette of coloured needle-shaped opacities in the cortex and anterior nucleus of the lens, consistent with unilateral Christmas tree cataract.     

Two patients with joint pain as initial presentation of a haematological malignancy

A 75-year-old man and a 53-year-old woman had longstanding joint pain, for which they had been treated with NSAIDs. When the symptoms worsened, a thorough diagnostic investigation was conducted that revealed myeloproliferative bone-marrow disorders in both patients. The man, who had polyarticular gout secondary to chronic myelomonocytic leukaemia, was able to maintain control of his joint pain with medical treatment. In the woman, with a history of stable joint pain due to polyarthritis, deterioration of the symptoms and the development of pancytopaenia led to a diagnosis of acute lymphocytic leukaemia; she died after receiving multiple courses of chemotherapy. The possibility of an underlying malignancy should be considered in patients with atypical symptoms in the locomotor system, an unexpected course or anomalous secondary symptoms.