Biomedical subjects
Publications and source records attributed to V Gilsanz.
In computerized tomography of the chest and abdomen in children, visualization of veins in the paravertebral musculature is indicative of superior inferior vena caval obstruction. This collateral circulation, while not a constant feature of vena caval obstruction, is not seen in normal children.
We have observed the development of chronic inflammatory bowel disease, indistinguishable from Crohn disease, in two boys with glycogen storage disease type Ib (GSD-Ib). A chance association of these diseases in two patients is unlikely. Studies of their neutrophils showed severe chronic neutropenia (mean absolute granulocyte counts of less than 500 cells/microliter) and markedly deficient chemotactic response (less than 5% of reference values) in the patients with GSD-Ib and normal neutrophil values in four patients with glycogen storage disease type Ia (GSD-Ia). Monocyte counts and responses to chemotactic stimulation were normal in both GSD-Ia and GSD-Ib. Chronic inflammatory bowel disease appears to be associated with GSD-Ib, and neutrophil abnormalities may be involved in the pathogenesis of the bowel inflammation.
Hydrothorax and/or ascites may be the most striking finding in children with right diaphragmatic hernia. The clinical, radiographic, and pathologic findings of five children with right diaphragmatic defects through which the liver had herniated are described. Three presented with a right hydrothorax, one with a right hydrothorax and ascites, and another with ascites. All four children with large right hydrothoraxes were found to have an incarcerated peritoneal sac filled with fluid in the right side of the chest at surgery or autopsy. Lymphatic congestion and obstruction was the probable cause for the fluid collection, which tended to enlarge with time. This condition may be life threatening, and two of the four patients died soon after birth because of hypoplasia of the lungs. Fetal ultrasonography in both had disclosed right intrathoracic cystic masses, and in one, intrauterine aspiration to decompress the lungs had been attempted. The other two patients are alive and well following surgical repair at 1 week and 7 months of age. Ascites was present in two patients and was believed to be due to hepatic venous obstruction, a mechanism similar to that responsible for the Budd-Chiari syndrome.
The incidence of radiographic visibility of the ossification centre of the body of the hyoid bone in radiographs taken during the first month of life was analysed for 34 autopsied infants: 16 with DiGeorge syndrome (DGS), 14 with tetralogy of Fallot (TOF), four with interrupted aortic arch (IAA) and a further 13, surviving infants with non-DGS TOF or non-DGS IAA. The incidence of visible hyoid ossification centre (HOC) was 75.7% in a control series of infants with neither congenital heart disease (CHD) nor DGS. Autopsied patients with DGS, TOF without DGS, and IAA without DGS showed a significantly low incidence of visible HOC. Infants with TOF (and possibly those with IAA) who did not have DGS and who did not die during infancy showed a normal incidence of visible HOC in radiographs taken during the first post-natal month. Radiological visibility of the HOC in the first post-natal month appears useful in the diagnosis of DGS and forms of CHD often seen in association with DGS and in assessing prognosis of neonates with certain types of CHD.
The incidence of radiographic visibility of the ossification centres of the body of the hyoid bone and of the humeral capital epiphysis in antero-posterior or lateral chest radiographs taken during the first month of life of 63 autopsied infants were analysed. The group comprised patients with Down's syndrome (DS) with congenital heart disease, 15; complete transposition of the great vessels (TGV), 10; Ivemark asplenia syndrome (IS), 17; and a control group of infants with congenital heart disease (CHD) who had none of the above conditions, nor tetralogy of Fallot, interrupted aortic arch, DiGeorge syndrome or hypoplastic left-heart complex, 31. The incidence of radiographically visible hyoid ossification centre (HOC) in the control group was 71% and of humeral capital epiphysis (HE), 16.1%. Autopsied infants with TGV, IS or DS with CHD showed increased visibility of HOC (100%); the incidence of visible HE was increased in neonates with IS (71.4%) and with TGV (50%). The differences in the incidence of radiographic visibility of HOC and HE in neonates with CHD, in this study and in others in the literature, appear to have diagnostic value.
Children with neuroblastoma presenting with opsomyoclonus are a diagnostic dilemma; they may not have a palpable mass or elevated urine catecholamines and the neurologic manifestation often precedes the discovery of a primary tumor by several months. The delay in diagnosis probably reflects the difficulty in detecting small lesions. Even with high-resolution computed tomography (CT), difficulty was recently experienced in identifying small retroperitoneal lesions in three patients who presented with opsomyoclonus. Calcifications in these small neoplasms resembled contrast material within adjacent small-bowel loops that were not discernible until additional, unenhanced scans were obtained. It is recommended that the initial CT evaluation in patients presenting with opsomyoclonus be performed without bowel or intravenous contrast enhancement.
Mesenchymal hamartomas of the liver usually present within the first 2 years of life. Abdominal enlargement and respiratory distress are the most common presenting features. Pathologically, the lesion is composed of large cysts separated by septations. Review of sonograms and CT scans in nine patients shows that a large, predominantly cystic mass with internal septae is characteristic of the tumor. Angiography shows peripheral hypervascularity with a septated avascular center. A confident preoperative diagnosis of mesenchymal hamartoma based on these features is possible.
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Two children with pulmonary sequestration and gastroesophageal connections are described. Barium studies demonstrated the site of the connection and angiography showed the vascular connections enabling successful surgery to the performed.
Computed tomography in a 5-year-old girl revealed a central calcified retroperitoneal mass which was shown on subsequent arteriography to be an aortic aneurysm.
The clinical records of ten premature infants with nephrolithiasis were reviewed. The probable mechanism of stone formation was hypercalciuria due to furosemide therapy (nine patients) and congenital hyperparathyroidism (one patient). The relatively high rates of urinary excretion of calcium from immature kidneys predisposed these neonates to the development of calcium stones. Renal calculi in neonates are complications of distinct, treatable conditions, and premature babies receiving furosemide treatment should be screened by ultrasonography for renal calcifications.
The finding of extensive costochondral calcification in five adolescents, aged 14-16 years, with hyperthyroidism prompted a retrospective study of all young persons with this condition seen in the last 10 years. Thirty-six patients with hyperthyroidism (ages 13-18 years) were evaluated. Of 32 thyrotoxic teenage girls, 21 (66%) showed some degree of calcification, compared with 73 of 600 (12%) in the control group. Only four boys were evaluated, but one had grade 2 (mild) calcification that was not seen in any boy in the control group. Costochondral calcification increases with age and continues throughout life, reflecting the aging process. The much higher incidence of early costochondral calcification in thyrotoxic adolescents than in the general population is a radiographic indication of advanced bone maturation not previously recognized.
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This multicenter study was designed to determine if CT can assess operability in stage III neuroblastoma. Nineteen children (11 boys, eight girls), aged 2-51 months, considered to have, by conventional clinical and radiographic examinations, localized neuroblastoma that crossed the midline were examined by CT. After intravenous and oral contrast media enhancements, CT was able to show the relation of the tumor to the adjacent vital vessels: aorta, celiac axis, and superior mesenteric artery. In all 15 patients, tumors that encased the aorta or its major branches were unresectable. However, three of four tumors crossing the midline but not coming into contact with the aorta or adherent only to one side of the vessel could be resected. Because surgery currently plays the major role in the treatment of neuroblastoma, the relation of the tumor to the aorta and great vessels is a more reliable and important factor in predicting the outcome of these children than the extension and location of the tumor with reference to the midline. CT after intravenous contrast enhancement can establish this relation and assess resectability.
It has been well documented that children with severe neuromuscular disorders have tall vertebrae, presumably a consequence of altered mechanical forces. This finding was present in four neonates who were born with severe "floppy" hypotonia due to Werdnig-Hoffmann disease (two cases), nonspecific neonatal myopathy, and congenital muscular dystrophy. Fetal vertebral development is normally modified by intrauterine muscle tension and fetal activity.
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The authors conducted a blind retrospective survey of the clinical records and radiographic examinations of 100 patients with juvenile rheumatoid arthritis to ascertain the cause of the joint calcification observed in several cases. Review of the clinical histories showed that 39 patients (92 joints) had been treated with intrasynovial corticosteroids, while an independent study of the radiographs of the same 100 children revealed 20 cases of calcification involving 32 joints. All of the calcified joints had been injected with intrasynovial corticosteroids on one or more occasions. The frequency of calcification, its morphology, and the possible pathogenesis are discussed.