Biomedical subjects
Publications and source records attributed to L A Metlay.
Unusual sonographic visualization of the interlobar fissure of the herniated fetal liver in a case of right congenital diaphragmatic hernia was misinterpreted as the right diaphragm leading to misdiagnosis of this fetal anomaly.
BACKGROUND: Since 1988, three nonrelated fatal cases of congenital ichthyosis associated with Gaucher disease have been described in Australia. CASE: We present a case of Gaucher disease with congenital ichthyosis and restrictive dermopathy and describe the associated prenatal sonographic findings and pathology of this new syndrome. CONCLUSION: The unusual association of congenital ichthyosis with lipid storage disease may be suspected prenatally. A high index of suspicion may prove this condition to be more common than previously thought.
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We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9,t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.
Type III congenital cystic malformation of the lung with nonimmune hydrops and oligohydramnios was diagnosed at 17 weeks by ultrasonography. Massive fetal cardiac compression with probable associated left- and right-sided failure causing both the oligohydramnios and the ascites, respectively, was thought to be the underlying pathophysiologic mechanism of this unusual clinical presentation. Pathologic examination after termination of the pregnancy confirmed the prenatal diagnosis.
Postpartum ultrasonographic examination of a patient with a retained placenta showed findings consistent with placenta accreta. The diagnosis was confirmed after surgery with histopathologic examination of the uterus. This case illustrates the possible clinical application of ultrasonography in the postpartum diagnosis of placenta accreta.
We present a case that describes a partial fetal response to external vibratory acoustic stimulation in that, although no fetal movements were elicited, a blunted, brief positive cardioacceleratory response was noted. This fetus exhibited features of the Pena-Shokeir syndrome, characterized by skeletal neurogenic atrophy, yet with a normal auditory system at autopsy. This observation may suggest that the prolonged increase in the basal fetal heart noted after fetal vibratory acoustic stimulation is sustained by active fetal movements, absent in this fetus due to joint contractures.
A rare case of acute intrapartum twin-twin transfusion occurred. The well-recognized criteria of long-standing chronic twin-twin transfusion were absent. Although a cesarean section was performed for obstetric reasons, the hyperperfused twin, A, died intrapartum. Twin B, the hypoperfused twin, although liveborn, died neonatally of renal failure attributed to renal cortical necrosis as a sequel to hypotension.
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Fetal ultrasound examination at 29 weeks' gestation revealed a severely symmetrically growth-retarded fetus with microcephaly, hypertelorism, and hypoplastic genitalia with a two-vessel umbilical cord. G-banding analysis on amniotic cell cultures revealed a 46, XY,r(4)(p15-q35) karyotype in each of the colonies analyzed. This prenatal diagnosis, to our knowledge the first reported, assisted clinical management of this pregnancy.
Heterotopic supradiaphragmatic liver formation is extremely rare. We studied a case of heterotopic liver in a 26-week fetus with severe cardiac and conotruncal anomalies. The cardiac anomalies are strikingly similar to those of a previously described patient with heterotopic supradiaphragmatic liver. The cardiac anomalies and heterotopic supradiaphragmatic liver formation may be mechanistically related.
A prospective study was performed of 152 pairs of nonstress tests (NSTs) obtained simultaneously from both members of 52 twin gestations. Fifty-seven percent of the total fetal heart rate (FHR) accelerations occurred simultaneously in both twins. Between twins, the incidence of simultaneously occurring FHR accelerations was independent of gestational age, growth discordancy, or the type of placenta. For each twin, the number of FHR accelerations remained constant with increasing gestational age. These results may suggest that tactile communication exists in utero between twins.
To assess the short-term effects of high-frequency jet ventilation (HFJV) on the neonatal lung, 28 newborn piglets were studied. Nine piglets were unventilated except during brief pulmonary measurements, nine animals were conventionally ventilated (arterial CO2 tension 35-45 torr, arterial O2 tension 70-80 torr) for 4 h, and 10 piglets were ventilated with HFJV for the same period. Pulmonary function was analyzed using a computerized technique and tracheobronchial aspirates were examined for biochemical indicators of lung injury; after 4 h, bronchoalveolar lavage was obtained for surfactant composition and activity, and lung sections were examined by light and electron microscopy. Results showed that HFJV provided adequate ventilation at lower inspiratory pressure compared with conventional ventilation (8.6 +/- 0.3 versus 13.8 +/- 1.3 cm H2O; p less than 0.01), while pulmonary mechanics did not vary significantly among the three animal groups. Tracheobronchial aspirates from HFJV animals had higher elastase activity versus unventilated piglets (118.5 +/- 14.1 versus 57.7 +/- 8.4 micrograms/mL; p less than 0.01), as well as higher albumin concentration versus unventilated animals (94.2 +/- 18.7 versus 23.2 +/- 6.5 micrograms/mL; p less than 0.01). In addition, there were small but statistically significant differences between all three groups in the distribution of surfactant phospholipids in bronchoalveolar lavage, although biophysical activity was normal. Scanning electron microscopy revealed flattening of Clara cells in the terminal bronchioles of HFJV animals due to loss of glycogen and secretory granules. These data indicate that despite lower peak inspiratory pressures, HFJV can cause subtle biochemical changes in lungs. Further studies are indicated to determine if these changes precede significant lung injury.
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A 17-year-old boy with Duchenne's muscular dystrophy and congestive cardiomyopathy with a left ventricular thrombus is described. The patient presented with flank pain, and computed tomography of the abdomen revealed multiple bilateral renal infarcts. An echocardiogram delineated a left ventricular thrombus and generalized hypokinesis with a left ventricular ejection fraction of 25%. Heparin therapy was started, but the patient died of refractory congestive heart failure. Autopsy revealed diffuse skeletal myopathy consistent with Duchenne's muscular dystrophy as well as biventricular cardiomyopathy with a recent left ventricular apical-septal mural thrombus. Right atrial thrombus, a left upper lobe pulmonary embolus, and splenic and renal infarcts were also noted. To our knowledge, this is the first reported case of left ventricular thrombus with or without systemic emboli in the cardiomyopathy of Duchenne's muscular dystrophy.
Radiographic-pathologic correlation of pulmonary patterns has not been performed in very small preterm infants below 28 weeks of gestation. The radiologic findings of linear interstitial densities or generalized airspace opacity coincided with histologic changes of edema and hemorrhage and indicate that this is the most frequent abnormality producing radiographic pulmonary opacification in infants of 23-27 weeks gestation. On occasion, parenchymal immaturity alone results in lung opacification, reflecting the established interpretation of diffuse atelecatasis as the histologic-radiographic finding in respiratory distress syndrome.
Subclinical structural abnormalities may accompany some congenital cardiovascular abnormalities. Echocardiographic observations led us to hypothesize that the positions of the left ventricular papillary muscles are abnormal in hearts with aortic valvar stenosis. To test this hypothesis, we examined 6 normal heart specimens and hearts with congenital cardiovascular malformations, including 5 with pulmonary atresia and an intact ventricular septum, 6 with tetralogy of Fallot and 5 with aortic valvar stenosis. We marked the papillary muscles and the mitral commissures, X-rayed the hearts, and measured the angular positions of the papillary muscles using the midpoint of a chord drawn between the mitral commissures as a reference point. The direction from the midpoint to the lateral commissure was designated as 0 degrees. The data (mean +/- SEM) were analyzed using a computer program (ANOVA). In normal hearts, the anterolateral and posteromedial papillary muscles were positioned, respectively, at 43 +/- 19 degrees and 126 +/- 26 degrees. The positions of the papillary muscles were similar to normal in the hearts with pulmonary atresia (62 +/- 38 degrees and 128 +/- 27 degrees) and tetralogy of Fallot (40 +/- 13 degrees and 130 +/- 37 degrees). In aortic stenosis, the locations of the papillary muscles (-76 +/- 42 degrees and 71 +/- 25 degrees) were significantly different from normal (P less than 0.05). The arc between the papillary muscles was 83 +/- 16 degrees in normals and 147 +/- 45 degrees in aortic stenosis (P less than 0.05). The length of the arc was similar to normal in other heart specimens. Thus, the papillary muscles were abnormally positioned in aortic stenosis.(ABSTRACT TRUNCATED AT 250 WORDS)