Biomedical subjects
Publications and source records attributed to N B Genieser.
HIV infection is responsible for a major proportion of the immunodeficiency disease seen in the pediatric population. The radiologic findings are varied and generally non-specific. The development of secondary neoplasms may present new diagnostic and therapeutic challenges as therapy for superimposed infections becomes more successful.
Patients suspected of having derangement of solitus asymmetry should be evaluated individually to determine abdominal visceral and vascular arrangement and to investigate associated problems. This evaluation should begin with plain films to assess cardiac and gastric positions and pulmonary vascularity. Assessment of the bronchial branching patterns should be attempted in all cases. Sonography will delineate the presence or absence of splenic tissue and the anatomy and relationships of the cava and the portal vein. When no spleen is found and the pulmonary vascularity appears congested, a subdiaphragmatic total anomalous pulmonary venous connection should be suspected and verified. If there are splenuli in the retrogastric area, particular attention should be paid to the status of the gallbladder, especially in children who do not have congenital heart disease. Selective spleen scans can confirm the presence of splenic tissue. The high cost and sedation requirement of MR would suggest that it be reserved for cases in which sonography is unable to answer the pertinent questions.
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Spondylothoracic dysplasia, also known as short-trunk dwarfism or Jarcho-Levin syndrome, is a fatal autosomal recessive disorder characterized by vertebral and spinal defects with a short thorax. Until recently, in utero diagnosis could only be made radiographically. Sonographic criteria for antenatal diagnosis are discussed in conjunction with a review of the literature.
Anomalies of renal fusion and their sonographic findings can be straightforward or quite complex. Sonograms of eight cases of simple and complicated anomalies of renal fusion in pediatric patients are reviewed to determine characteristic sonographic findings in such cases. The correct diagnosis can be suspected by evaluation of the following parameters: (1) the echoic texture of the renal "mass"; (2) the differential orientation of the renal pelves; (3) the content of the contralateral renal fossa; (4) the size of the ipsilateral kidney; (5) extension of the isthmus medially anterior to the spine; and (6) presence of a deep anteroposterior notch. Utilizing these parameters, a rationale for diagnosis and for selecting the appropriate sequence of further studies is suggested.
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Magnetic resonance imaging utilizing spin echo sequences was used to demonstrate cor triatriatum in an 18-year-old boy. Phase map images aided the diagnosis by demonstrating the presence of slowly flowing blood in the accessory atrial chamber. Magnetic resonance is an excellent modality for the noninvasive diagnosis of cor triatriatum.
A retrospective examination of brain tumors in infants less than a year of age was undertaken by reviewing their charts and CT scans. In contradistinction to brain tumors found in older children, most tumors were supratentorial in location. The most common histologic types included: astrocytoma, ganglioglioma and primative neuroectodermal tumors. Apart from their larger size at the time of presentation, these tumors were radiologically and pathologically similar to analogous tumors found in adults.
Magnetic resonance phase images are derived from conventional spin-echo (SE) pulse sequences and display properties of proton movement that occurs with blood flow. SE magnitude and phase images were obtained and retrospectively evaluated in 21 patients referred for potential cardiovascular abnormalities in which intracardiac or intravascular signal was detected. Abnormalities included intravascular and intracardiac thrombus, aneurysm, aortic dissection, flow alteration, atherosclerotic disease, and congenital cardiac anomaly. Thrombosis (six cases) was successfully differentiated from flow-related signal (15 cases) by comparing phase images with SE magnitude images; in cases of thrombosis, there was no phase shift in corresponding areas of increased signal intensity. In comparison, SE magnitude signal intensities alone were not an accurate indicator in differentiating thrombus from flow-related enhancement. Because phase images are sensitive for identifying flow, the SE magnitude signal of intravascular tumor or thrombus can be differentiated from that of flow effects with more clinical confidence.
Six infants with cerebral infarcts were examined prospectively with real-time sonography to determine the sonographic characteristics of infarcts and their evolution. Patients' ages ranged from 1 day to 7 months, and serial sonographic and/or CT scans were obtained over a period of 2 weeks to 14 months in the survivors. Among our patients the most characteristic sonographic findings of infarction were absence of gyral definition, absence of vascular pulsations, altered parenchymal echogenicity, and territorial distribution. Mass effect, reflected in ventricular size and shift of midline structures, may also be seen and largely parallels the extent of the infarction. Evolution of infarcts was seen sonographically as gradual return of arterial pulsations and concurrent development of cystic spaces. Sonography was found to be a valuable tool in the diagnosis of infarction in infancy and in monitoring its evolution, although CT was necessary for adequate initial evaluation in older infants.
Over an 18-month period, 11 adults with congenital pulmonary anomalies within the sequestration spectrum, identified either surgically or radiographically by CT and/or angiography, were evaluated with MR. These included seven patients with bronchogenic cysts, two with intralobar pulmonary sequestrations, one with scimitar syndrome, and one with bronchial atresia. In each case, MR showed at least some findings indicative of the correct diagnosis. MR proved especially effective in the detection of abnormal fluid collections (nine cases) and the identification of anomalous vessels (three cases). Fluid collections were easily identified in all cases, including four cases with high-density collections on CT (two with bronchogenic cysts and two with intralobar pulmonary sequestration), especially when single-level, multiecho T2-weighted sequences were obtained. Calculated T2 values ranged from 78 to 439 msec (average, 223 +/- 123 msec). Although T2 values were statistically significant for differentiating fluid from muscle (p = .0012) and fat (p = .0046), they were not sufficiently specific to allow precise fluid characterization. Significant limitations were also apparent, such as an inability to detect alterations in the parenchymal architecture of the lungs (three cases) or intrapulmonary vascularity (one case). Despite this, we conclude that MR may be of considerable value in the assessment of congenital pulmonary anomalies and in select cases obviate more invasive diagnostic procedures.
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We have studied an infant with respiratory distress, absent fifth rays of the hands, and hydrometrocolpos. Congenital absence of the fifth ray of the hand is a rare malformation. In some syndromes the ulnar defects are symmetrical; however, as an isolated anomaly the defects are usually asymmetric. This patient's malformations appear to be unique in that the ulnar ray was affected bilaterally, with an associated genital malformation.
A 7-year-old male presented with a triple A syndrome, a tirad of ACTH insensitivity, achilasia and alacrima. His clinical course is followed and the literature reviewed.
A case of pulmonary embolism caused by breakdancing is reported. There was no clinical suspicion of pulmonary embolism.
Because of greatly enhanced contrast resolution and the advantages of cross-sectional visualization of lung anatomy, computed tomography (CT) has the potential to add significantly to the conceptualization of parenchymal lung disease. Although the value of CT has been well documented in the detection and characterization of lung nodules, the role of CT has been less clearly defined for other types of lung disease. This report describes the CT appearance of distal air-space disease. As demonstrated by the use of inflated and contrast-injected lungs obtained at autopsy, air-space disease is definable by the following: poorly marginated nodules ranging up to 1 cm in size; coalescence of nodules; air-bronchograms and air-alveolograms; ground-glass opacification; and distinct zonal patterns of distribution, including central and peripheral configurations. These patterns of air-space abnormalities are further refined by review of case material, including examples of air-space disease secondary to aspiration and primary intraalveolar disease, evaluated by the authors over a five-year period.
Dyssegmental dwarfism is probably an autosomal recessive, lethal, generalized chondrodysplasia; it is characterized by anisospondyly , shortening of long bones, and narrow chest. Maturation of chondrocytes at the epiphyseal plates is disturbed. The pathologic features of osseous and nonosseous cartilage in a stillborn female infant with dyssegmental dwarfism are described. The cartilage matrix of tubular bones, vertebrae, ilia , ribs, nose, larynx, and trachea showed acellular areas with accumulation of acid mucopolysaccharides and no increase in collagen fibers. The findings, although not pathognomonic, suggest that this type of dwarfism may be a generalized connective tissue disorder. The abnormal synthesis, structure, or secretion of the components of the cartilaginous matrix may lead to accumulation of acellular material in both skeletal and respiratory tract cartilage.
Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change. Each patient had a history of pneumonia, and in such patients, characteristic radiographic features should suggest the possibility of late presentation of CCAM.