Preoperative localization of parathyroid lesions. Value of 99mTc-MIBI tomography and factors influencing detection.

UNLABELLED: The AIM of our study was to assess retrospectively the value of (99m)Tc-MIBI SPECT in the localization of parathyroid lesions in primary hyperparathyroidism and to determine the impact of PTH level, age, sex, characteristics of the lesions and thyroid nodules on the sensitivity of imaging. PATIENTS, METHODS: Fifty nine patients who were cured after the resection of 60 lesions (50 adenomas, 9 hyperplasias and 1 carcinoma, 9 of them in ectopy) were selected. (99m)TcO(4)(-), early and late (99m)Tc-MIBI planar images (n = 59), (99m)Tc-MIBI SPECT (n = 58) and ultrasound (n = 50) performed preoperatively were analyzed. The imaging results were compared to surgical and histological findings and correlated to different factors suspected of influencing the imaging's sensitivity. RESULTS: Sensitivity of double phase (99m)Tc-MIBI/(99m)TcO(4)(-) scintigraphy was higher than that of early or late scintigraphy alone. SPECT increased the sensitivity of scintigraphy from 85% to 92% and was useful to confirm doubtful foci and to localize ectopic lesions. Ultrasound (US) had the lowest sensitivity (56%) and the highest rate of false-positive results (n = 10), but identified 2 adenomas which were not detected by scintigraphy. Combining all imaging modalities, sensitivity reached 96%. Better sensitivities were observed when age <69 years, preoperative PTH level > or =155 pg/ml, weight of the gland > or =0.80 g and in the absence of thyroid nodules. US was more influenced by these factors than scintigraphy. CONCLUSION: Combination of US, double-phase (99m)Tc-MIBI/(99m)TcO(4)(-) planar scintigraphy and SPECT is the most accurate method for the detection of parathyroid lesions and should be performed before minimally invasive surgery, especially when PTH level is low, in older patients and in cases of multinodular goiter.

Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation.

Cleidocranial dysplasia (CCD) is a congenital disorder of bone development characterized by persistently open or delayed closure of cranial sutures and wormian bones, hypoplastic and/or aplastic clavicles, wide pubic symphysis, dental anomalies and short stature. The condition is inherited as an autosomal-dominant trait and the human CBFA1 gene has been identified as the CCD gene. We describe a prenatal form of the skeletal disorder that included clavicular hypoplasia, absence of ossification of the cranial parietal bones and very poor ossification of the frontal and pubic bones. Growth restriction affecting only the long bones was also noted. The fetal karyotype revealed an apparently de novo balanced t(2q;6q)(q36;q16) translocation. This particular form of skeletal disorder associated with the absence of family history and an apparently de novo balanced translocation led the parents to opt for termination of the pregnancy.

Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.

Marker or ring X [r(X)] chromosomes of varying size are often found in patients with Turner syndrome. Patients with very small r(X) chromosomes that did not include the X-inactivation locus (XIST) have been described with a more severe phenotype. Small r(X) chromosomes are rare in males and there are only five previous reports of such cases. We report the identification of a small supernumerary X chromosome in an abnormal male fetus. Cytogenetic analysis from chorionic villus sampling was performed because of fetal nuchal translucency thickness and it showed mosaicism 46,XY/47,XY,+r(X)/48,XY,+r(X),+r(X). Fluorescence in situ hybridizations (FISH) showed the marker to be of X-chromosome origin and not to contain the XIST locus. Additional specific probes showed that the r(X) included a euchromatic region in proximal Xq. At 20 weeks gestation, a second ultrasound examination revealed cerebral abnormalities. After genetic counselling, the pregnancy was terminated. The fetus we describe is the first male with a mosaic XIST-negative r(X) chromosome identified at prenatal diagnosis. The phenotype we observed was probably the result of functional disomy of the genes in the r(X) chromosome, secondary to loss of the XIST locus.

Amniocentesis and amnioinfusion during pregnancy. Report of four complicated cases.

We report two foetal complications after amnioinfusion with dye injection for evaluation of severe oligohydramnios in pregnancy. In the first case, an underskin colouring was to disappear within a few days. In the second case, an irreversible skin after-effect with muscular atrophy and lesion of the underskin tissues developed progressively, although the trained practitioner did not notice any particular resistance during the injection of the dye and the ultrasonographer did not point out that the foetus had been stuck by the needle. Both later reported cases concern two life threatening maternal complications due to amniocentesis for foetal karyotyping indicated by maternal age, a septic shock occurred 24h after entering the amniotic cavity, leading to a long stay in intensive care units. In one of those cases, the patient recovered from a cardiac arrest. We come to the conclusion that the essential continuous ultrasonographic monitoring cannot avoid all complications, some of which may lead to severe adverse foetal effects and others may need an intensive medical care for the mother, mainly after iatrogenic chorioamnionitis. Experience of the perinatologist remains an important factor to limit the complications without avoiding them completely. The indications must be carefully evaluated, the information given to the patients must be clear and in the future, intraamniotic injections of dyes will have to be avoided and replaced by non-invasive tests for diagnosis of preterm premature rupture of membranes, such as diamine-oxidase, foetal fibronectin or PROM-tests. The rules of a good practice will have to be defined and widely spread.

[Galen vein aneurysm. Review of the literature and report of 2 cases]. / Anévrysme de la veine de Galien. Revue de la littérature à propos de 2 cas.

Aneurysm of the vein of Galen is a rare congenital disease, with a generally poor prognosis. It represents less than 1% of cerebral arteriovenous malformations. The intrauterine diagnosis of this vascular anomaly has been facilitated by vascular exploration with pulsed and color Doppler sonography. According to some studies focused on prognostical criteria, the perinatal prognosis seems to be invariably compromised when signs of cardiac decompensation develop prenatally, knowing that early delivery may generate additional complications in the very premature infant. Medical treatment is inefficient, because of the large, persisting systemic shunt, so that pregnancy termination may be performed, after parental consent, in some cases demonstrating all signs of cardiac decompensation. On the other hand, infants with normal velocity waveforms and a low extent of the systemic shunt have a good extrauterine adaptation. A full clinical evaluation of the affected neonates at the end of the first week of live is now the best way to select the infants for intravascular embolization.