MASA syndrome: ultrasonographic evidence in a male fetus.

The recent identification of a common etiology among MASA syndrome (McKusick 303300), X-linked hydrocephalus (HSAS) (McKusick 307000) and other related neurological disorders, which had previously been considered distinct nosological entities, allowed us to diagnose MASA syndrome in a male fetus in a primigravida at the 29th week of gestation by sonographic signs of the MASA spectrum such as hydrocephalus and hypoplasia of corpus callosum. Indeed, the evidence of an X-linked neurological disease in the brother and the maternal uncle of the pregnant women enabled us to estimate a 25% risk of a male fetus being an affected hemizygote. The way in which a prenatal diagnosis, based on instrumental procedures, was reached is described since the authors were unable to perform, at the time of the observation, a molecular confirmation which was carried out only after birth.

[Giant pedunculated clustered uterine fibromyoma in hyaline and cystic degeneration. Limitations of clinical and instrumental diagnosis]. / Fibromioma uterino gigante peduncolato a grappolo in degenerazione ialina e cistica. Limiti della diagnostica clinica e strumentale.

The authors report a case of a 46-year-old woman who was checked by integrated ultrasound examination, i.e. transabdominal and transvaginal, and by abdominopelvic CAT. The examinations, ascertained the presence of a probably malignant, voluminous, ovarian, multilobate abdominopelvic neoplasia. On opening the belly, it was found that the tumefaction was a voluminous, pedunculate uterine myofibroma in clusters starting from the rear isthmian wall while the adnexa were normal. The histological examination confirmed that it was a "fibromyoma in hyaline and cystic degeneration". The authors conclude that although the image diagnostics has reached an extremely high level of precision, it is not yet possible to make an absolutely certain diagnosis, either on the organ from which a pelvic neoplasia originates or on its biological nature.

[Ultrasonographic monitoring of the endometrium in post-menopausal women asymptomatic or undergoing hormone replacement therapy]. / Monitoraggio ecografico dell'endometrio in donne in post-menopausa asintomatiche od in terapia ormonale sostitutiva (HRT).

This study evaluated the reliability of ultrasonography in the post-menopausal period for the screening of endometrium pathology in women who are non-symptomatic or undergoing hormone replacement therapy. A total of 152 women were examined, 76 were non-symptomatic and 76 were undergoing estro-progestational therapy. As in previous studies on the subject, we took 0.8 cm as the thickness limit for the endometrium; over this limit closer investigations are considered necessary. In the non-symptomatic women, a strong correlation between the thickness of the endometrium and hormonal state was noted; it was not possible to differentiate the proliferative-secretory endometrium from the hyperplastic one. For women under HRT ultrasonography proved to be a good method for monitoring the endometrium as it allows for an adequate evaluation of its thickness throughout the different phases of sequential hormone treatment.

[Severe anomaly of fetal limbs after early and failed voluntary interruption of pregnancy]. / Severa anomalia degli arti fetali dopo precoce e fallita interruzione volontaria di gravidanza.

The authors report the case of a patient who underwent a failed legal abortion at the 7th week of pregnancy via vacuum aspiration. A follow-up ultrasound survey done at the 14th week demonstrated the continuance of pregnancy and the presence of a serious fetal deformity consisting of the amelia of the two upper limbs, complete phocomelia of the right lower limb and distal phocomelia of the left lower limb. In the light of recent findings of a high incidence of fetal limb abnormalities in women subjected to chorionic villus sampling, before the 9th week of gestation, the Authors hypothesize that chorionic villus sampling, occurring during the abortion attempt, could probably be the cause of the fetal limb abnormalities in the present case study.

[Pregnancy and labor in a primigravida with Glanzmann's thrombasthenia]. / Gravidanza e parto in primigravida affetta da tromboastenia di Glanzmann.

Glanzmann's thrombasthenia is an autosomal, recessive, inherited haemorrhagic disorder due to the lack of the glycoprotein IIb/IIIa (GP IIb/IIIa) complex of the platelet membrane. The disease is characterized by a prolonged bleeding time and by a severe haemorrhagic mucocutaneous diathesis. The only possible antihaemorrhagic therapeutic measure is the infusion of platelet concentrates, but this is almost constantly associated with the production of antibodies against the GP IIb/IIIa complex that lead to the rapid removal of the infused platelets from the circulation. For this reason, platelet transfusions are usually without efficacy and must be limited to severe, profuse haemorrhages. We report the case of a primigravidae with Glanzmann's thrombasthenia in which a spontaneous delivery was made possible by a series of measures taken during the parturition to avoid haemorrhagic complications, without the use of platelet transfusions.