Ultrasound findings in the adreno-genital syndrome (congenital adrenal hyperplasia).

The adreno-genital syndrome (congenital adrenal hyperplasia) is caused by deficiency of an enzyme (usually C-21 hydroxylase) necessary for adrenal production of cortisol, which results in excessive accumulation of androgenic precursors. It is the most common cause of female pseudohermaphroditism. There have been a few sporadic reports of ultrasonic demonstration of enlarged adrenals in the adreno-genital syndrome. To determine whether ultrasonography could be used to establish or exclude the diagnosis, ultrasonic examinations were performed on eight newborn infants with ambiguous genitalia who were subsequently proven to have the adreno-genital syndrome. The adrenals were found to be enlarged in three patients, at the upper limit of normal in three patients, and in two infants the adrenals were well within normal limits in size. The uterus was identified in seven of the eight patients, but was not seen for technical reasons in one. It is concluded that ultrasound is useful in the evaluation of infants with congenital adrenal hyperplasia to establish the presence of a uterus and to demonstrate enlargement of the adrenals, but it should be cautioned that finding adrenals of normal size does not exclude the diagnosis. Key words ultrasound, adreno-genital syndrome, congenital adrenal hyperplasia.

Magnetic resonance imaging of ruptured Baker's cyst.

The clinical presentation of a ruptured Baker's cyst and of thrombophlebitis can be identical. Venography, arthrography, and more recently ultrasonography have been used to differentiate these two entities. We report a patient with a ruptured Baker's cyst who was also evaluated using magnetic resonance imaging (MRI). The soft-tissue abnormalities were better demonstrated by MRI than by the other imaging methods.

Juvenile rheumatoid arthritis: assessment with MR imaging.

Thirty-three joints of the appendicular skeleton in 15 children with juvenile rheumatoid arthritis were examined with magnetic resonance (MR) imaging to determine if it could demonstrate synovial hypertrophy and status of the articular cartilage. Presumed synovial hypertrophy was seen in 13 joints as masses of varying sizes of low to intermediate signal intensity on T1- and T2-weighted images; sometimes foci of increased signal intensity, most likely due to fluid or inflammation, were seen on T2-weighted images. Probable abnormal articular cartilage was detected in ten joints, and MR imaging also demonstrated epiphyseal overgrowth, bone erosions, joint effusions, and joint space narrowing. Because MR imaging appears to provide an objective method of evaluating both synovial hypertrophy and status of articular cartilage, it may prove to be useful in monitoring progression of juvenile rheumatoid arthritis and response to therapy.

Hemophilic arthropathy: assessment with MR imaging.

Fifteen patients with hemophilia, 14 of whom had hemophilic arthropathy, were examined with magnetic resonance (MR) imaging to determine if it could be used to assess hemophilic arthropathy, especially synovial hypertrophy and the status of the articular cartilage. Thirty-five joints of the appendicular skeleton were imaged. Four joints in two patients were clinically normal. Synovial hypertrophy was detected in 28 joints and appeared as areas of low to intermediate signal intensity on T1- and T2-weighted images, with foci of increased signal intensity on T2-weighted images (presumed to be due to areas of fluid or inflammation) in 16 joints. Abnormal articular cartilage was demonstrated in 26 joints; bone lesions, fluid collections, and joint space narrowing could also be seen. MR imaging appears to be useful in depicting the components of hemophilic arthropathy.

Chondromalacia patellae: assessment with MR imaging.

Magnetic resonance (MR) images of the posterior patellar hyaline articular cartilage were obtained in 23 subjects to determine if MR imaging could accurately demonstrate the patellar cartilage. Arthroscopy was used as the standard of reference. Three subjects were asymptomatic volunteers. In the remaining 20 who had patellofemoral pain, arthroscopy was performed before MR imaging in seven and afterward in 12; one did not undergo arthroscopy. MR imaging showed focal areas of swelling of the patellar cartilage, focal hypointensity, surface irregularity, areas of thinning, and areas of cartilage loss with exposure of subchondral bone. The surgical findings agreed with those from MR images in all seven patients who underwent arthroscopy before MR imaging and in ten of the 12 who underwent surgery afterward. MR imaging is an accurate means of examining the posterior patellar cartilage and should be considered as an alternative to diagnostic arthroscopy when chondromalacia patellae is suspected.

Serial CT scans in thymic hyperplasia.

A case of thymic hyperplasia in juvenile myasthenia gravis presenting as interval thymic enlargement on serial CT scans is described. The CT scans correlated with clinical worsening.

MR imaging of osteochondral lesions of talus.

Ten patients with osteochondral lesions of the talus had magnetic resonance (MR) imaging to determine if this modality could accurately characterize the bone lesion and overlying articular cartilage. Eight patients had arthroscopy, five of whom also had arthrotomy. Magnetic resonance detected abnormal cartilage in all eight patients and disruption of cartilage in four of five, proven at surgery. One patient had disrupted cartilage at surgery not diagnosed by MR. Four patients had excision of the osteochondral fragment and curettage of the talar defect and in these patients MR accurately characterized the bony lesion. Three patients had conservative surgical procedures (drilling) and the extent of the bony lesion could not be determined at surgery. Magnetic resonance can accurately characterize the osteocartilaginous components of talus lesions and even though it should not replace plain radiography for diagnosis, it is ideally suited for evaluation of the articular cartilage and has proven to be useful in planning surgical procedures.

Radiographic findings in children and young adults with Barrett's esophagus.

The upper-gastrointestinal examinations of 32 patients (mean age, 11 years) with histologically proven Barrett's esophagus were reviewed to evaluate the radiologic findings in children. All patients had symptoms of chronic gastroesophageal reflux and/or esophagitis, including atypical findings such as aspiration pneumonia, seizures, and failure to thrive. Fourteen patients had other diseases that might predispose them to abnormal esophageal motility and gastroesophageal reflux. Twenty-five patients had single-contrast and seven patients had double-contrast examinations. Four patients had normal single-contrast studies; 24 had gastroesophageal reflux; 12 had strictures; 10 had esophageal ulcers; and only four had hiatal hernias. The most notable difference between the results of endoscopy and the upper-gastrointestinal studies was the rate of detection of esophageal ulcers. Ten of the patients with single-contrast studies had ulcers seen at endoscopy but not shown radiologically. No specific radiologic signs of Barrett's esophagus were found, although most of our patients had abnormal upper gastrointestinal studies.

How useful is the barium enema in the diagnosis of infantile Hirschsprung's disease?

We studied the usefulness of the barium enema to rule out Hirschsprung's disease (congenital megacolon) in the evaluation of infants with constipation. Results from barium enemas in 58 constipated infants and children who underwent rectal suction biopsies to rule out aganglionosis were evaluated in retrospect for the presence of a transition zone, delayed evacuation of barium, and colonic anatomic abnormalities. As expected, the presence of a transition zone was most accurate in predicting Hirschsprung's disease. Eighty percent of infants with aganglionosis had a roentgenographic transition zone, while 20% did not. Twenty-nine percent of infants with a suspected roentgenographic transition zone did not have aganglionosis. Delayed evacuation of barium was a poor predictor of aganglionosis. The presence of delayed evacuation of barium did not improve the accuracy of the transition zone to predict Hirschsprung's disease. Barium enemas did not reveal any additional colonic anatomic defects other than a transition zone to account for constipation in our study group. These results demonstrated that the barium enema is not a specific enough screening procedure to rule out Hirschsprung's disease in the unobstructed infant. Rectal suction biopsy is diagnostic and should be performed as the procedure of choice in those infants suspected of having Hirschsprung's disease.

Evaluation of pulmonary hypertrophic osteoarthropathy in cystic fibrosis. A comprehensive study.

A questionnaire survey of 375 patients with cystic fibrosis was performed to seek evidence of pulmonary hypertrophic osteoarthropathy (PHOA). Three hundred responses were obtained. Forty-five patients (15%) who described long-bone or joint pain met clinical criteria for the diagnosis of PHOA, 25 of whom had roentgenographic evidence of periostitis. Compared with an age- and sex-matched control group (group 3), the patients with cystic fibrosis and PHOA as well as roentgenographic evidence of periostitis (group 1) had worse Shwachman scores and pulmonary function and a significantly increased mortality rate (36%). The patients with PHOA but no roentgenographic evidence of periostitis (group 2) had Shwachman scores intermediate between groups 1 and 3. We believe PHOA is more common than previously suspected. Its incidence appears related to severity of disease.

Comparison of computed tomography and ultrasound in the evaluation of abdominal neuroblastoma.

A retrospective review of 15 cases of abdominal neuroblastoma was undertaken to determine the efficacy of ultrasound (US) in the evaluation of this disorder. Thirteen of the 15 cases were studied with both US and computed tomography (CT). It was found that US was accurate in all but two cases, where shadowing from bowel gas and dense tumor calcifications prevented accurate delineation of residual tumors. The CT scans were degraded by artifacts from surgical clips in three cases and by patient motion in one. A nonopacified loop of bowel was mistaken for tumor by CT in one case. We conclude that although both CT and US should be done initially, US alone is adequate in most cases for follow-up of abdominal neuroblastoma. When excessive bowel gas is encountered, or dense tumor calcifications are known to be present, CT is the modality of choice.

Partial resolution of bone lesions. A child with severe combined immunodeficiency disease and adenosine deaminase deficiency after enzyme-replacement therapy.

A child with severe combined immunodeficiency disease and adenosine deaminase deficiency, with characteristic bone dysplasia, was treated with transfusions of frozen irradiated RBCs as a means of enzyme replacement. This therapy resulted in restoration of immunologic competence and partial resolution of the bone lesions. Although the natural history of these lesions without therapy is not known, enzyme-replacement therapy may have played a role in the resolution of this patient's bone lesions.