Hypoaldosteronism in three sibs due to 18-dehydrogenase deficiency

Three sibs all presented in the early neonatal period with a salt-losing syndrome. The salt-losing form of congenital adrenal hyperplasia was diagnosed and appropriate treatment with glucocorticosteroids, mineralocorticosteroids, and additional dietary salt started. Although early life was maintained with difficulty, with age all 3 children required decreasing amounts of replacement steroids to maintain normal plasma electrolyte balance. They were reinvestigated at the ages of 15 years and 8 years (twins), when cortisol synthesis and metabolism proved normal, but aldosterone synthesis was blocked by deficiency of 18-dehydrogenase. Rational treatment of these cases of a salt-losing syndrome in which aldosterone synthesis alone is blocked due to lack of the enzyme 18-dehydrogenase requires the administration of a mineralocorticosteroid drug only. Since deoxycorticosterone (acetate or pivalate) requires intramuscular administration, as life-long therapy oral fludrocortisone is preferable. Although fludrocortisone has glucocorticoid activity, the "hydrocortisone equivalent" effect of the small dosage used was unlikely to inhibit either pituitary corticotrophin or growth hormone production.     

Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction

Twenty-six patients (4 months to 6 years old) with achondroplasia complicated by sleep apnea and/or other neurologic manifestations underwent plain computed tomography (CT) of the craniocervical junction; six also underwent CT myelography. For objectification, multiplanar reconstruction was used to complement axial plane measurements by providing coronal and sagittal measurements; multiplanar reconstruction also improved perception of the longitudinal relationships between the brain stem and subarachnoid space. A narrow subarachnoid space was found in all 26 patients; marked cord compression was present in nine, six of whom underwent CT myelography. These six had marked focal obliteration of the subarachnoid space on both plain CT and CT myelography. Since the subarachnoid space immediately above and below the craniocervical junction is normally capacious, when marked constriction was present, no additional information could have been gained from CT myelography. Thus, plain CT was shown to be sufficient for surgical planning (suboccipital decompression) in nine patients with cord compression due to achondroplasia.     

Barium filling for glucagon-resistant spasm on double-contrast barium enema examinations

Severe glucagon-resistant spasm on double-contrast barium enema (DCE) examinations may occasionally lead to a nondiagnostic examination or erroneously suggest colonic disease. In such cases, this glucagon-resistant spasm may be overcome by refilling the colon with single-contrast barium immediately after completion of the DCE examination.     

Myometrial invasion by endometrial carcinoma: sonographic assessment

The depth of myometrial invasion by endometrial carcinoma was evaluated using real-time sonography (US) in 20 patients with histologically proved adenocarcinoma of the endometrium. In 14 of 20 (70%) cases, US-based estimation of the depth of myometrial invasion was within 10% of the actual measurement in the gross specimen. The US-based estimation of tumor invasion was low in seven patients, high in four patients, and agreed with pathologic findings (+/- 5%) in nine patients. In four patients with polypoid intraluminal extension of tumor, a deeply invasive tumor was suspected on US but was not found on pathologic examination. In 12 superficially invasive tumors, the continuity of the demarcating subendometrial halo was intact in nine and incomplete in three. In six patients with deeply invasive tumors, this zone was partially disrupted in four, totally disrupted in one, and intact in one. Errors of estimation of the depth of myometrial invasion on US most frequently occurred when a tumor had a significant intraluminal polypoid extension. Demonstration of a subendometrial halo usually indicated superficial invasion, whereas the absence of a halo was frequently associated with deep invasion.     

Effacement of the fetal cisterna magna in association with myelomeningocele

The cisterna magna is effaced in association with myelomeningocele. The authors retrospectively investigated the size of the fetal cisterna magna as a predictor of fetal myelomeningocele in 67 pregnant women (17-38 menstrual weeks) referred for prenatal sonography because of an elevated serum alpha-fetoprotein level (n = 61) or a suspicion of fetal ventriculomegaly on previously obtained sonograms (n = 6). Twenty fetuses had myelomeningocele, 14 had isolated ventriculomegaly, and 33 were normal. A normal-sized cisterna magna (range, 4-9 mm in depth) was present in all normal fetuses. In 19 of 20 fetuses with myelomeningocele, the views of the posterior fossa were adequate, and in each of these the cisterna magna was effaced (n = 18) or very small (n = 1). The cisterna magna was effaced in five of 13 (38%) fetuses with isolated ventriculomegaly in whom the posterior fossa was adequately imaged. Although effacement of the cisterna magna is a nonspecific finding, the high negative predictive value of this sign is useful during routine screening of the fetal neural axis.