Enzymologic studies on patients with methylmalonic aciduria: basis for a clinical trial of deoxyadenosylcobalamin in a hydroxocobalamin-unresponsive patient.

Eleven patients with methylmalonic aciduria have been classified on the basis of detailed enzymology on cultured skin fibroblasts. Nine were classified as mutase deficiencies and were unresponsive to hydroxocobalamin in vivo or in vitro. One was classified as a Cbl A variant and was responsive to hydroxocobalamin therapy in vitro and in vivo. Patient 11 was classified as having deoxyadenosyltransferase deficiency (Cbl B). However, a clinical therapeutic trial of deoxyadenosylcobalamin resulted in no clinical or biochemical improvement. Further studies on the patient's cultured fibroblasts suggested that deoxyadenosylcobalamin fails to reach the mitochondria in an intact form. These studies show that detailed enzymologic classification is essential for the reliable evaluation of the response to therapeutic maneuvers; complementation studies alone may be inadequate to completely classify these patients. Therapy with deoxyadenosylcobalamin offers no advantages over the use of hydroxocobalamin in the treatment of patients with methylmalonic aciduria.     

Melanotic neuroectodermal tumor of infancy: Report of a case with ganglionic differentiation

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare but well-documented lesion of neuroectodermal derivation. Maturation of the neural elements has been reported only occasionally. We report a case of MNTI of the maxilla showing maturation of neural elements to ganglionic cells. © Wiley-Liss, Inc.     

Autonomous aldosterone-secreting ovarian tumor

The case of a young woman with primary aldosteronism originating extraadrenally--ovarian tumor--is reported. Clinically she presented with uncontrolled hypertension. Biochemical and hormonal profiles showed features of aldosteronism. The primary was found in the left ovary. Following excision of the tumor, aldosteronism regressed completely. Microscopically, the tumor was of the lipid cell type. Nine months after surgery she is asymptomatic and well. Review of the literature uncovered three previous reports of aldosterone-secreting ovarian tumors.     

Amniotic fluid composition in abnormal pregnancies

The amniotic fluid composition of 74 pregnant women having abnormalities was compared with those of 70 normal pregnant women. Women having small for gestational age children showed a decrease of creatinine level and an increase of locithin to sphingomyelin (L/S) ratio. Anomic mothers had higher alkaline phosphatase. The calcium and creatinine were decreased and protein was increased in amniotic fluid of premature deliveries.     

Radionuclide venography in the management of proximal venous occlusion. A comparison with X-ray contrast venography.

Ascending contrast venography often fails to show the proximal venous system when there is co-existing occlusion of femoral or iliac veins. Retrograde and pertrochanteric venography both have severe limitations in terms of invasiveness and reliability. Radionuclide venography (RNV) is suggested as a less invasive alternative. 100 patients were investigated by both RNV and X-ray contrast venography (XRV). There was a 72% overall correlation between two methods of investigation. The proximal definition of XRV was limited in those cases with femoral obstruction. RNV, however gave progressively better views as imaging became more proximal and this was accentuated in the presence of femoral or iliac occlusion. RNV is simple and easy to perform and less invasive than XRV. The definition at calf level is such that it cannot at this stage replace XRV as the standard diagnostic procedure. However, in patients with proximal occlusions it gives more reliable information than that obtainable by ascending contrast venography.