Lethal multiple pterygium syndrome: report of a new case with hydranencephaly.

A 28-week male fetus with the cardinal signs of the lethal multiple pterygium syndrome (multiple pterygia, congenital joint contractures, lung hypoplasia, facial abnormalities, and hydrops) is reported here. In addition, he had hydranencephaly, an anomaly not yet reported in this group of conditions. This potentially new form of the lethal multiple pterygium was detected prenatally by ultrasound examination. In discussing the case, we consider the probable autosomal recessive inheritance pattern and raise questions about the etiology and heterogeneity of this syndrome.

Pseudomalignant myositis ossificans. A pathological study of eight cases.

Eight cases of pseudomalignant myositis ossificans are presented. There was a male predominance and four patients were under 20 years of age. There was no history of trauma, but there was evidence of mild local or general inflammation with positive roentgenograms in two cases. Histologically there was active fibroblastic proliferation, appearing to develop essentially in fibrin deposits with metaplasia leading to the formation of an unusual osteoid. The newly formed mass was surrounded by bone and compressed the surrounding muscle fibers, which were either atrophic or trapped therein. The histological criteria distinguishing this disorder from other forms of myositis ossificans are discussed, and comparisons are drawn with nodular fascitis and proliferative myositis. An association with the latter was observed in one case. This nontumourous growth must be distinguished from osteogenic sarcoma of soft tissue. The differential diagnosis is based on careful histological criteria, which must be supported by clinical and radiological data.

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.

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.

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.

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.

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.

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.

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.

[Emergency cardiac pacing via a coronary vessel during percutaneous coronary angioplasty]. / Stimulation cardiaque d'urgence par voie coronaire lors de l'angioplastie coronaire percutanée.

Percutaneous coronary angioplasty (PCA) is sometimes complicated by bradyarrhythmias necessitating emergency temporary cardiac pacing. This is usually performed by the classical transvenous endocardial approach. This experimental study investigated the possibility of using the metallic guide wire used during PCA as a monopolar electrode. Systematic electrical stimulation at different levels of the coronary arteries in 6 anaesthetised pigs showed threshold levels in the distal segments of 3 to 15 mA, close to the values observed in the right ventricule. Short periods of pacing were well tolerated. On the other hand, prolonged pacing (2 to 5 days) invariably led to the formation of a thrombus in the coronary segment occupied by the metallic guide wire and so should be avoided. This study shows that the metallic guide wire can be used as an emergency pacing electrode during PCA but this should be limited to a short period. This technique could replace the systematic introduction of classical transvenous pacing catheters.

[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.

Pancarditis with valvulitis in endomyocardial fibrosis (=emf) and in human African trypanosomiasis (= hat). A comparative histological study of four Ugandan cases.

The study compares the histotopographical lesions of two cases of endomyocardial fibrosis with those of two hearts in sleeping sickness, all of them from Uganda. There was considerable overlapping of the fibrosed zones in endomyocardial fibrosis and the corresponding sites occupied by the chronic inflammatory process in trypanosomiasis. There was a tendency towards fibrosis in the hearts of trypanosomiasis while, in endomyocardial fibrosis, there were mild focal chronic cellular infiltrations. This overlapping and to some extent similarities would suggest that the two conditions may only differ in evolution in time and intensity and that they may be the result of the same inflammatory process. Stipulating a cardiac tropism for African trypanosomes, it is suggested that some African cases of endomyocardial fibrosis may be merely burnt-out lesions of trypanosomal pancarditis. Previous descriptions of carditis in human African and American trypanosomiasis are briefly reviewed, and the present findings are discussed in view of a possible trypanosomal aetiology in some African cardiomyopathies.

Tricuspid and right ventricular infundibular obstruction associated with calcified right ventricular pseudo-tumour. Radiologic and pathologic aspects.

The authors describe a rare 'pseudo-tumour' in the right heart, discovered after a cerebrovascular accident (paradoxal embolus probably). The mass occupied the anterior leaflet of the tricuspid valve. Its mobility and numerous calcifications facilitated diagnosis, determination of its exact position, and evaluation of haemodynamic consequences. The histopathologic features are reported, and its aetiology is discussed.