Ina Bhan

Desmoplastic Small Cell Tumor: A Report of Three Cases and a Review of the Literature

Purpose: Desmoplastic round cell tumor (DSCT) is a highly malignant abdominal tumor first described in 1991, with subsequent cases predominantly noted in pathologic case reports. The authors evaluated response to alternating, intensive chemotherapy in three patients with DSCT, and reviewed the clinical experience with this newly described tumor as reported in the literature. Patients and Methods: Three adolescent boys with DSCT were treated intravenously with vincristine 2 mg/m2, doxorubicin 75 mg/m2, cyclophosphamide 1.8 g/m2, alternating with 5-day cycles of etoposide 100 mg/m2/day, ifosfamide 1.8 g/m2/day for a total of 11–15 courses. Results: Each patient showed initial tumor regression during chemotherapy, but developed progressive disease within 8–18 months. One patient subsequently showed a transient response to doxorubicin 45 mg/m2 plus 5-fluorouracil 500–600 mg/m2. All three patients died of disease within 20 months of diagnosis. A comprehensive literature review of clinical data on 101 reported cases of DSCT is presented. The median age was 21 years (range 6–38 years) with 78 male patients and 23 female patients. Ninety-nine cases involved tumor mass in the abdominal-pelvic cavity in proximity to the mesentery. Metastatic seeding to the omentum was most common, followed by spread of disease to liver, distant lymph nodes, lung, and occasionally to scrotum or to ovary. Tumor response to chemotherapy was noted in ∼50% of 40 patients who received combinations of doxorubicin, cisplatin, cyclophosphamide, etoposide, and/or 5-fluorouracil. Four of 13 patients who received additional radiotherapy were alive at 24–48 months. Median survival was 17 months (range: 3–72 months), with only two patients reported disease free beyond 2 years at 40 and 48 months. Conclusion: DSCT should be included in the differential diagnosis of small round cell tumors in children and young adults. Tumor regression has been noted during multiagent chemotherapy, but prolonged survival is rare with current therapies.

Esophageal biopsy in the diagnosis of reflux esophagitis

Esophagitis in infancy and childhood produces characteristic histologic changes in the mucosa and lamina propria of the distal esophagus. The use of biopsy in addition to endoscopic evaluation considerably enhances the accuracy of the diagnosis of esophagitis, particularly when the degree of inflammatory change is mild. In the absence of severe inflammatory changes, such as ulceration or mucosal slough, esophageal biopsy appears to be essential for the accurate diagnosis of esophagitis. In children of any age with GER who have symptoms of esophagitis, antacid therapy and vigorous efforts to control reflux are indicated. Failure to respond to this program is an indication for esophageal biopsy to confirm or rule out the presence of esophagitis. The degree of inflammatory change in the biopsy is a reliable guide to expected response to antiacid therapy.

Characterization of Chorioamnionitis in 2nd-Trimester C-Section Placentas and Correlation with Microorganism Recovery from Subamniotic Tissues

Prolonged exposure to infection appears to influence fetal/neonatal development. We characterize the relationship between histologic patterns of inflammation and microorganism recovery from the placentas of live born infants delivered before the 28th postmenstrual week. The subamniotic parenchyma of 835 placentas delivered by cesarean section were cultured and evaluated for specific histologic patterns of inflammation in a blinded fashion. Cases with prolonged membrane rupture were excluded. Microorganisms were recovered from 41% of placentas. Microorganisms found more frequently in placentas with high-grade chorionic plate inflammation include Actinomyces, Prevotella bivia, Corynebacterium sp., Escherichia coli, Peptostreptococcus magnus, multiple species of Streptococci, and Mycoplasma sp., including Ureaplasma urealyticum. These microorganisms were also associated with fetal vasculitis (neutrophilic infiltration of chorionic plate stem vessels or umbilical cord). Recovery of microorganisms from placental parenchyma is associated with histologic inflammation. The same microorganisms responsible for inciting high-grade chorionic plate inflammation are also most likely to promote fetal inflammation.

Cystic retroperitoneal lymphangioma in infants and children.

Retroperitoneal lymphangiomas are uncommon benign tumors usually presenting in early life. They may cause significant pressure on adjacent structures, most often with superior and medial displacement of the kidney and medial deviation of the ureter. Relative radiolucency on total body opacification during excretory urography, and features of a cystic structure on ultrasonography and computed tomography should further suggest the possibility of a retroperitoneal lymphangioma. Vascular stretching and displacement without neovascularity on angiography and contrast entry into the cysts on lower extremity lymphography are additional features, but such procedures are usually unnecessary.

Histological characteristics of singleton placentas delivered before the 28th week of gestation

Aims: The placenta is a record of the fetal environment and its examination may provide information about the babys subsequent growth and development. We describe the histological characteristics of 947 singleton placentas from infants born between 23 and 27 weeks gestation. Methods: Consent was obtained from mothers who delivered before 28 weeks (clinical estimate). We evaluated the gross and histopathological features of the placenta and assessed pair‐wise correlations between variables. Results: Lesions of uteroplacental circulation (abruption, extensive infarction or thrombosis, marked basal or perivillous fibrin deposition, increased syncytial knots) were inversely related to those associated with inflammation of the membranes and cord. Earlier age favoured inflammatory variables, while older age favoured characteristics attributed to impaired blood flow. We observed inflammation of the chorionic plate in 43%, the cord in 19%, and of chorionic plate vessels in 30%. Of the placentas with umbilical cord inflammation, 8% had no inflammation of the chorionic plate. Conclusions: This study population is unique in its size and recruitment by gestational age rather than birth weight. Inflammation occurred frequently, but not in placentas that had characteristics of vasculopathy. The prevalence of inflammation decreased with increasing gestational age, while vasculopathy increased. Funisitis need not be accompanied by chorionic inflammation.

Radiographic chest contour and pulmonary air leaks in oligohydramnios-related pulmonary hypoplasia (Potter's syndrome).

Review of the clinical records, chest roentgenograms, and autopsy material of 17 infants dying from oligohydramnios related pulmonary hypoplasia confirmed that two roentgen signs appeared with high frequency. These were pneumomediastinum/pneumothorax (82%) and a bell-shaped chest contour (59%). The bell-shaped chest is valuable in predicting the most severe degrees of lung growth impairment in these infants, and was present in all cases in which oligohydramnios was caused by bilateral renal agenesis. Either pneumomediastinum/pneumothorax or the bell-shaped chest configuration, when present alone, are of low diagnostic value as they are relatively nonspecific signs; their combination, however, has predictive value for Potters syndrome and may be important in evaluation infants with less typical clinical manifestations of Potters syndrome.

Infantile G(M1) gangliosidosis: complete morphology and histochemistry of two autopsy cases, with particular reference to delayed central nervous system myelination.

ABSTRACT Inborn metabolic errors causing lysosomal storage, such as β-galactosidase deficiency (GM1 gangliosidosis [GM1]), have well-recognized effects on cellular function and morphology. In some classically “neuronal” storage diseases, including GM1, neuroradiologic observations of infants have suggested a delay in myelination on the basis of persistently “immature” signal intensities monitored over time. We sought to evaluate in a semiquantitative fashion the pattern and degree of myelination in two infantile GM1 patients, one boy and one girl, autopsied at 15 months of age. We assigned myelination degrees for defined sites on an ordinal scale of 0 to 4, and compared them to published population-based values for autopsied infants. In both patients, earlier-myelinating structures were comparable in development to that expected for postconceptional age, whereas later-myelinating structures were delayed. These data correlate well with the neuroradiologic diagnosis of myelination delay in these infants and suggest that the metabolic defect has a primary influence on myelin development, in addition to effects related to neuronal storage. Furthermore, our analysis by light and electron microscopy and lectin histochemistry of both CNS and systemic tissues, several of which had not been described, add to the understanding of the stored material in different cell types.

Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.

Barium enema in suspected necrotising enterocolitis: Is it ever indicated?

Three infants with suspected, and subsequently proven, necrotising enterocolitis (NEC) had contrast medium enemas early in the course of their disease to assist diagnosis. There were no adverse effects from the enemas. All patients had evidence of persistent spasm of segments of the colon and contour speculation, probably representing superficial mucosal ulceration. It is suggested that when early or mild forms of NEC present diagnostic problems, a carefully performed contrast enema may be of diagnostic value. Absence of deep transmucosal necrosis in such cases definitely decreases the risk of perforation during the examination.

Hapten-specific Response to a New Arsonic Acid Conjugate, Arsanil Isothiocyanate

Summary A new derivative of arsonic acid, arsanil isothiocyanate was used to couple arsonic acid via an is othiocyanate group to amino groups. Immunization of guinea pigs with this determinant attached to e-amino carproic acid in complete Freunds adjuvant led to the production of delayed hypersensitivity toward this haptenic determinant, as indicated by positive skin tests to compounds to which the determinant was coupled to egg albumin and bovine serum albumin. In addition, lymphocytes from these immunized animals responded to these antigens in vitro by undergoing blast transformation as measured by incorporation of tritiated thymidine. The dominance of the arsonic acid group in the determinant was seen in the form of positive skin tests as well as in in vitro stimulation with the various conjugates in animals immunized with either Ars-NCS-EACA or ABA-tyr. The response by the homologous compounds were, however, generally better than those of the heterologous compounds. These results suggest an important contribution to the reactivity of the immunodomi-nant arsonic acid group by the neighboring site of attachment.