Spectrum and progression of conduction abnormalities in infants born to mothers with anti-SSA/Ro-SSB/La antibodies.

The classic cardiac manifestation of neonatal lupus is congenital heart block, attributed to antibody-mediated inflammation and subsequent fibrosis of the atrioventricular (AV) node. In considering the pathologic process of injury it may be that tissue damage results in a range of conduction abnormalities. Identification of less-advanced degrees of block or of fibrosis around the AV node without any conduction abnormality on EKG would support this pathologic model, and serve as a potential marker for treatment if the conduction defect could be shown to progress. To ascertain the spectrum of arrhythmias associated with maternal anti-SSA/Ro-SSB/La antibodies, records of all children enrolled in the Research Registry for Neonatal Lupus were reviewed. Of 187 children with congenital heart block whose mothers have anti-SSA/Ro-SSB/La antibodies, nine had a prolonged PR interval on EKG at birth, four of whom progressed to more advanced AV block. A child whose younger sibling had third degree block was diagnosed with first degree block at age 10 years at the time of surgery for a broken wrist. Two children diagnosed in utero with second degree block were treated with dexamethasone and reverted to normal sinus rhythm by birth, but ultimately progressed to third degree block. Four children had second degree block at birth: of these, two progressed to third degree block. Sinus bradycardia (< 100 bpm) was present in three (3.8%) of 78 fetuses for whom atrial rates were recorded by echocardiogram. Of 40 neonates for whom EKGs were available, the mean atrial rate was 137+/-20 bpm (range 75-200). These data have important research and clinical implications. In contrast to the AV node, permanent sinoatrial nodal involvement is not clinically apparent. Perhaps many fetuses sustain mild inflammation, but resolution is variable, as suggested by the presence of incomplete AV block. Since subsequent progression of less-advanced degrees of block can occur, an EKG should be performed on all infants born to mothers with anti-SSA/Ro-SSB/La antibodies.

Osseous metaplasia in benign colorectal polyps.

We report two unique cases of metaplastic ossification occurring within a tubulovillous adenoma and a juvenile polyp. In both lesions, well-formed bony spicules were present that were adjacent to living epithelial cells. The metaplastic bone revealed vimentin positivity and cytokeratin negativity. The pathogenesis of osseous metaplasia in colorectal tumors remains unclear, but the process seems to have no clinical significance.

Juvenile granulosa cell tumor of the testis: a comparative immunohistochemical study with normal infantile gonads.

This study concerns the nature of two different cell populations in a juvenile granulosa cell tumor (GCT) of the infantile testis. Immunohistochemical features of the tumor were compared with those of normal infantile testes (six cases) and ovaries (six cases). The testicular neoplasm showed follicles, cysts and solid nodules composed of an internal layer of polyhedral cells that expressed cytokeratin and vimentin. Most of the follicles and nodules were surrounded by an external layer of spindle cells that reacted to muscle-specific actin, vimentin, and focally to desmin. A neoplastic rather than reactive origin of the spindle cell population is favored by their concentric arrangement in a peritubular-like or theca-like fashion and by their immunohistochemical correlation with normal peritubular-myoid and theca external cells. Sertoli and granulosa cells of normal infantile gonads were positive for cytokeratin and vimentin; peritubular myoid and theca externa cells expressed muscle-specific actin, vimentin, and focally desmin. The occurrence of two well-differentiated components in the tumor favors its origin from the primitive specialized gonadal stromal cell that during neoplastic transformation develops bidirectional differentiation toward epithelial-like and smooth muscle-like lineages. The possibility that this tumor is composed of immature Sertoli and peritubular myoid cells is discussed.

Heart transplantation for end-stage cardiomyopathy caused by an occult pheochromocytoma.

Dilated cardiomyopathy has been found in patients with pheochromocytoma. The cardiomyopathy and resultant congestive heart failure can be progressive and fatal, or reversible, if the source of the excess catecholamines is removed. Histologic and autopsy studies revealed a characteristic focal myocarditis and contraction band necrosis, indicating that the circulating catecholamine excess secreted by the pheochromocytoma is the cause of the cardiomyopathy.

Fetal fibronectin in cervical and vaginal secretions as a predictor of preterm delivery.

BACKGROUND: Preterm delivery is the leading cause of neonatal mortality in the United States, but efforts to address the problem are hampered by the inability to predict accurately which pregnancies are at risk. We postulated that damage to the fetal membranes may release fetal fibronectin into the cervix and vagina, giving rise to a biochemical marker for preterm delivery. METHODS: We measured fetal-fibronectin concentrations in cervical and vaginal secretions, amniotic fluid, and maternal plasma with a sensitive immunoassay using the monoclonal antibody FDC-6. Immunohistochemical studies were used to determine the distribution of fetal fibronectin in the placenta and amniochorionic membranes and to ascertain its cell of origin. RESULTS: Women with uncomplicated pregnancies (n = 163) who delivered at term rarely had cervicovaginal fetal-fibronectin concentrations above 0.05 micrograms per milliliter between 21 and 37 weeks of gestation (11 of 267 cervical samples [4 percent] and 9 of 267 vaginal samples [3 percent]. High levels of fetal fibronectin were detected in amniotic fluid and in the cervical or vaginal secretions of 93.8 percent of the women with preterm rupture of membranes (n = 65). Cervical or vaginal fetal fibronectin was also present in 50.4 percent of the women with preterm uterine contractions and intact membranes (n = 117), and its presence identified the women who delivered before term (n = 60) with a sensitivity of 81.7 percent and a specificity of 82.5 percent. In the placenta and membranes, fetal fibronectin was found at points of contact with the uterine wall. CONCLUSIONS: The presence of cervicovaginal fetal fibronectin in the second and third trimesters of pregnancy identifies a subgroup of women who are at high risk for preterm delivery. This phenomenon may reflect the separation of the chorion from the decidual layer of the uterus, with the release of intact or degraded chorionic components of the extracellular matrix into the cervical and vaginal secretions.

Giant cell vasculitis with extravascular granulomas in an adolescent.

We describe an 18-year-old white male who developed lower extremity ischemia requiring amputation. He presented at 14 with pulmonary infiltrates, hepatosplenomegaly, fever, rash, adenopathy, uveitis, and arthralgias; clinical and laboratory findings were consistent with Mycoplasma pneumoniae infection. Despite adequate treatment with antibiotics, he developed chronic arthralgias and fevers, with rash and pericardial effusion. Criteria for the diagnosis of systemic lupus erythematosus were not met; juvenile rheumatoid arthritis was diagnosed presumptively. Over the subsequent 4 years he developed lymphadenopathy with biopsy-proven nonnecrotizing granulomas, chronic leg ulceration with granulomatous histology, and acute-onset impending gangrene of the left foot. A biopsy of the posterior tibial artery demonstrated giant cell arteritis. Although the histologic features were consistent with Takayasu's arteritis, complete aortic arteriography was normal. Examination of the amputated leg showed multifocal segmental giant cell arteritis. Clinicopathologic features suggested, but were not fully consistent with, juvenile systemic granulomatosis. His disease may represent a separate sarcoid-like entity in the broad spectrum of vasculitis.

Interstitial deletion of the short arm of chromosome 3 (3p14).

Deletions of 3p usually involve the terminal portion (3p25). An interstitial deletion of a proximal 3p segment (3p14) was detected at amniocentesis. The clinical and cytogenetic characteristics of this case and of three previously published cases are reviewed. Cardiovascular and gastrointestinal malformations have not been reported before in association with this particular chromosome abnormality.

Identical twins concordant for Crohn's disease.

Identical twin adolescent girls developed Crohn's disease within 15 months of each other. Clinical symptoms, growth retardation, barium studies, disease course, and pathologic findings at the time of resection were remarkably similar. Seventeen pairs of twins concordant for Crohn's disease have now been reported, but only four discordant pairs. Such observations lend support to a considerable genetic influence on the development and course of Crohn's disease.

Prenatal shunting of fetal ascites in nonimmune hydrops fetalis.

A case of severe nonimmune hydrops fetalis presenting at 24 weeks gestation is presented. Ultrasound, echocardiographic, and fetal ascitic fluid studies were nondiagnostic. Because of massive fetal ascites an indwelling peritoneal amniotic cavity shunt was placed. Despite functioning of the shunt, a fetal death in utero occurred.

Right aortic arch, isolated left common carotid and left subclavian arteries, and subclavian steal syndrome: a variant of polysplenia syndrome.

Congenital subclavian steal may result from various anomalies of the aortic arch. The most common predisposing type is the right aortic arch with an isolated left subclavian artery arising from a left ductus arteriosus. A rare variant includes isolation of the left common carotid as well as the left subclavian arteries. The case of an infant with polysplenia--F-anisosplenia syndrome and this rare variant of congenital left subclavian steal is presented. This anomalous constellation has been heretofore unreported and illustrates a new situs abnormality that may complicate the polysplenia syndrome.

Dystrophic degeneration of papillary muscle and ventricular myocardium. A basis for mitral valve prolapse in Duchenne's muscular dystrophy.

The hearts of three children who died with Duchenne's progressive muscular dystrophy and features of mitral valve prolapse were examined to find if the valve disorder arose from cardiomyopathy due to the primary disease or from dystrophic changes in th mitral valve itself. Gross, histologic and ultrastructural features of mitral valve annulus, anterior and posterior leaflets, chordae tendineae, right and left ventricles, and anterior and posterior papillary muscles were compared with those of similar tissues from normal children of matched age and sex. Fibrosis and myofibrillar lysis--most extensive in posterior papillary muscle and in the posterobasal segment of the left ventricle--were the main histopathologic findings. Myofibrillar lysis was characterized by a total loss of actin and myosin myofilaments. By contrast, the mitral valve annulus, its leaflets and the origin, distribution pattern, length and thickness of chordae tendineae were entirely normal. These observations establish that mitral valve prolapse syndrome in Duchenne's dystrophy is an expression of cardiomyopathy involving papillary muscle and ventricular myocardium rather than a result of dystrophic changes in the mitral valve leaflets, annulus or chordae tendineae.

Results of repair of coarctation of the aorta during infancy.

One hundred ninety-one infants under 1 year of age underwent repair of coarctation of the aortz during a recent 14 year period. All operations were performed on an urgent, nonelective basis. One third of the infants had isolated coarctation (Group I), one third had associated ventricular septal defect (VSD) (Group II), and one third had other complex anomalies (Group III). The operative mortality rate has decreased to 4% in infants with isolated coarctation of the aorta but remains at 25% for repair of coarctation in association with significant intracardiac disease (Groups II and III). The late mortality rate also was affected by intracardiac defects. No late deaths occurred in Group I patients, whereas the 5 year mortality rate was 25% in Groups II and III. Surgical repair was by resection and end-to-end anastomosis in most (92%) cases. Recurrent coarctation, as defined by arm/leg blood pressure gradient at rest, developed in 54% of the survivors within 7 years following operation. Recoarctation did not affect late mortality rate. Twelve children (11.1% of survivors) underwent repair of recoarctation during this interval. Hypertension developed in 27% of the children followed more than 5 years after repair and was always associated with residual arm/leg blood pressure gradient. There are no cases of idiopathic hypertension in this series.

Genital mycoplasma infection. Intrauterine infection: pathologic study of the fetus and placenta.

Mycoplasma infection was present in the fetuses from three spontaneous abortions and in one second-trimester newborn. Gross examination revealed in most cases a severely infected placenta and membranes, with a fetus of normal appearance. The fetal infection presumably followed placental involvement and appeared to have been acquired shortly prior to delivery. Genital mycoplasmas, Ureaplasma urealyticum or Mycoplasma hominis, were isolated from the placentas and the fetal tissues, and from the genital tracts of the mothers. Isolation of mycoplasmas from the liver indicated that bloodstream dissemination of these organisms occurred in the fetus. In the fetus, the pathologic changes were variable. Lesions were identified in the lung by scanning electron microscopy of the bronchial tree in two cases and were accompanied by interstitial pneumonia. An abnormally dilated left ventricle suggestive of cardiomyopathy was observed in one case.

Teratoma in horseshoe kidneys.

Renal tumors are uncommon, but they are significantly increased in horseshoe kidneys. Although nephroblastomas frequently occur in horseshoe kidneys of children, no teratoma has been observed in the past. A teratoma in the horseshoe kidney of a child with unusual congenital anomalies is described.

Mixed teratoid tumors of the liver and neck in trisomy 13.

A fetus with trisomy 13 syndrome and teratomas of liver and neck is described. The relationship of aneuploidy and chromosomal instability to neoplasia is discussed. Teratomas of the liver are reviewed.