Cardiac vein thrombosis and haemorrhagic myocardial necrosis; report of a case with review of the literature.

A 29-year-old woman, addicted to heroin since the age of 15 years, presented with a 4-day history of acute inspiratory chest pain, dyspnoea and vomiting associated with hypoventilation. She died 3 h after admission to the intensive care unit in spite of active resuscitative measures. The main autopsy findings were limited to the heart, which showed widespread cardiac vein thrombosis, and both ventricles and the atria were associated with multiple areas of haemorrhagic myocardial necrosis. We review the literature of this uncommon pathological entity and discuss its possible pathogenesis.

Wilms' tumor in the adult--report of a case and review of the literature.

Wilms' tumor is rare in adults. Its histology, grading and staging are identical to those in children. Investigators agree on a combined modality approach in the treatment of adult Wilms' tumor (AWT), but differ on how aggressive it should be. Some advocate adopting the current pediatric protocols which take into account tumor stage and grade. Others recommend using advanced disease regimens for all stages and grades. We report on an 18 year-old male with stage IV favorable histology Wilms' tumor. The patient underwent radical nephrectomy and received postoperative radiotherapy with intensive four-drug chemotherapy. He had one relapse after 12 months which was successfully treated with chemotherapy and radiotherapy. He remains in remission without relapses 36 months after the initial diagnosis. The genetics of Wilms' tumor has been well studied in children but is practically unknown in adults; karyotype and molecular genetic studies in this case were normal.

Dysembryoplastic neuroepithelial tumour as a cause of coma.

Dysembryoplastic neuroepithelial tumour (DNT), a non-evolutive intracranial cortical lesion, is generally associated with epileptic seizures principally among youths. A case of a DNT which presented with uncommon clinical features, characterized by severe intracranial hypertension and progressive blindness warranting emergency surgery, is documented. In addition to the classical radiological and neuropathological features characteristic of DNTs there was a large haemorrhagic cystic haematoma as a result of repeated dissections and/or ruptures of the abnormal vessels in areas, explaining some of the atypical clinical symptoms. Therefore the need for a regular, careful clinical and radiological follow-up of cases with cystic DNTs is strongly recommended.

Inflammatory fibroid polyp in a continent ileo-anal pouch after colectomy for ulcerative colitis--case report.

The most frequent complication occurring in continent ileo-anal pouches after colectomy for ulcerative colitis (UC) is pouchitis. Recurrences of adenomas or carcinomas in pouches of familial adenomatous polyposis (FAP) patients are exceptional, whereas in those with ulcerative colitis dysplasia it is a very rare occurrence. We describe the case of a young woman who developed a mass in a J pouch three years after its construction following colectomy for ulcerative colitis. Histological and immunohistochemical studies showed that this mass had the features of an inflammatory fibroid polyp. A review of the literature of lesions observed in continent ileo-anal pouches after colectomy for UC would suggest that this lesion is an exceedingly rare complication of those devices.

Extranodal Rosai-Dorfman disease in childhood.

We describe two children with Rosai-Dorfman disease who presented with exophthalmos, leukocytosis, an elevated sedimentation rate and hypergammaglobulinemia. Both became blind as a result of this condition. One child had associated bilateral cervical lymphadenopathy. Investigation revealed involvement of the nasal fossae and retro-orbital spaces by tumoural masses histologically consistent with the diagnosis of sinus histiocytosis with massive lymphadenopathy (SHML). Immunohistochemical studies suggest that these histiocytes are activated macrophages derived from a phenotype hybrid between "professional" phagocytic cells and immune accessory cells, expressing lysosomal antigens, S-100 protein but rarely, CDla. An underlying immune dysfunction may be central to the pathogenesis of this disease.

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mutations at amino acids L444P, A456P, and V460V. Although glucocerebrosidase RNA was present, an affected fetus had virtually no glucocerebrosidase cross reactive material on western analyses. The severe clinical course and pathology observed in these patients resemble that of the null allele Gaucher mouse, and suggest that the absence of glucocerebrosidase activity results in early death.

Multiloculated epidermoid cyst of the liver.

Epidermoid cysts of the liver are extremely rare and have been described in both children and adults. Their etiology remains an enigma, and several theories have been suggested as to their origin. Due to their possible malignant potential, early detection and resection are mandatory whether the cysts are unilocular or multilocular.

Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling.

Chorionic villus sampling performed for advanced maternal age revealed trisomy 3 in 20% of mitoses studied after a semi-direct chromosomal harvest. Amniocytes and cord blood showed a non-mosaic 46,XY karyotype. The birthweight of the normal newborn was at the tenth percentile. Analysis of term placenta by cytogenetics and by fluorescent in situ hybridization (FISH) confirmed the presence of the trisomy 3 in 20% and 12%, respectively, of cells from two peripheral placental biopsies. Placental histology was heterogeneous, some portions showing immature, edematous and undervascularized villi. DNA analysis confirmed the biparental origin of the chromosomes 3 in the child, whose development is normal at 36 months.

Changing patterns of mycobacterial disease at a teaching community hospital.

OBJECTIVES: To evaluate trends in the occurrence and diagnosis of mycobacterial disease. DESIGN: Prospective surveillance study using a central tuberculosis registry at a 611-bed teaching community hospital. RESULTS: Data pertaining to 715 patients were entered into the registry between 1976 and 1991 on the basis of positive smears or cultures for acid-fast bacilli (AFB). Over time, the ratio of isolates of Mycobacterium tuberculosis to isolates of nontuberculous mycobacteria reversed (from 3.2 to 1 between 1976 and 1981 to 1 to 1.6 between 1986 and 1991). The sensitivity of the sputum AFB smear for diagnosis of pulmonary tuberculosis increased (from 0.73 to 0.96), but the positive predictive value of the sputum AFB smear declined (from 0.72 to 0.59). The acquired immunodeficiency syndrome epidemic accounted for these changes only to a small extent. CONCLUSIONS: The increasing occurrence of non-tuberculous mycobacterial disease and the declining positive predictive value of the sputum AFB smear at this hospital imply that respiratory isolation and antituberculous therapy will be used inappropriately for many patients. The development and use of newer tests for early isolation and specific identification of M tuberculosis should be accelerated.

Diffuse bilateral glomerulocystic disease of the kidneys and multiple cardiac rhabdomyomas in a newborn. Relationship with tuberous sclerosis and review of the literature.

A case of glomerulocystic disease of the kidneys in a newborn is described. The kidneys were very large and diffusely cystic. Histologically, all portions of the nephron were involved and some of the cysts were lined by a prominent hyperplastic eosinophilic epithelium. This, together with the presence of numerous cardiac rhabdomyomas, a nodular haemangiomatous harmartoma and histiocytoid cell nests in the spleen were strongly suggestive of tuberous sclerosis. The relation between glomerulocystic kidney disease and tuberous sclerosis is discussed.

Latent dystrophic myopathy revealed by unsuccessful weaning from mechanical ventilation.

We report a patient who had difficulty in weaning from mechanical ventilation which was due to an unsuspected latent dystrophic myopathy. The association of latent dystrophic myopathy and unsuccessful weaning has not been previously reported.

Pathological changes in the triceps surae muscle after rupture of the Achilles tendon.

Biopsy of the triceps surae muscle was carried out in 11 patients who had sustained a spontaneous rupture of the Achilles tendon during sports. All the specimens showed important histological and ultrastructural changes, the most striking being the presence of large quantities of lipid droplets within the muscle fibres. A factor common to every patient was a period of inactivity before resuming sports. Preliminary training may be valuable in producing positive adaptive changes in the muscles, and the consequent improvement in function may reduce the risk of rupture of the Achilles tendon.

[Eosinophilic myocarditis and pulmonary hypertension in a drug-addict. Anatomo-clinical study and brief review of the literature]. / Myocardite à éosinophiles et hypertension pulmonaire chez une toxicomane. Etude anatomo-clinique et brève revue de la littérature.

We report the clinical and pathological findings in a young female patient who was a chronic drug addict for over eight years. In 1984, she presented with tricuspid endocarditis and three years later, was found to have irreversible pulmonary hypertension. Post-mortem examination revealed not only persistent tricuspid endocarditis and evidence of repeated pulmonary thromboembolism explaining her pulmonary hypertension but also a diffuse eosinophilic myocarditis, with myocardial fibre degeneration. The combined pulmonary and myocardial lesions have rarely been documented in the same drug addict. The relationship of these various pathological findings are discussed in the light of the existing literature.

Aspergillus endocarditis and myocarditis in a patient with the acquired immunodeficiency syndrome (AIDS). A review of the literature.

We report the post-mortem findings of the case of a 31-year-old male who, through sexual contacts with a female drug addict, was found to be HIV-positive and developed the acquired immunodeficiency syndrome (AIDS) 2 years later. He was treated for various opportunistic infections over the next 7 years when he presented with cardiac abnormalities and multiple cerebral lesions which were responsible for his death. The results revealed Aspergillus fumigatus endocarditis and myocarditis with mycotic thromboembolic extension to the brain, spleen, kidney and pancreas. We review the literature of Aspergillus infection in patients with AIDS and more specifically cardiac involvement with this pathogen.

[Endarterectomy using a Simpson catheter in arterial insufficiency of the lower limbs]. / Endartériectomie par cathéter de Simpson dans l'insuffisance artérielle des membres inférieurs.

Treatment of arterial stenoses by the Simpson atherectomy catheter is carried out by resecting the atheroma. A rotating cutter housed in a cylindrical chamber with a lateral opening is applied against the arterial wall by a low-pressure balloon. Several cuts are made until a large enough diameter of arterial lumen is obtained. We report the results in the first 6 patients treated by this technique using 7F and 9F catheters. All had short (less than 2 cm) and narrow (greater than or equal to 70%) stenoses of iliac, superficial femoral or popliteal arteries. To reduce the stenoses to 30% or less, 4 to 11 cuts were necessary. Histological study of the fragments was performed. The result was inadequate in the only case of stenotic iliac artery and we proceeded with balloon dilatation. The small fragments obtained in this particular case were very hard and calcified. 4 patients with claudication (superficial femoral or popliteal stenosis) were asymptomatic after treatment, whereas one patient suffering from Burger's disease with acral necrotic lesions did not benefit from the procedure in spite of a good morphological result. No complication was encountered. This efficient technique is especially indicated in short segmental stenoses of femoro-popliteal or possibly iliac arteries. It avoids the usual intimal cracks associated with balloon angioplasty and produces a smooth surface whose long term benefit has still to be demonstrated.