Oculocutaneous albinism associated with multiple malformations and psychomotor retardation

Abstract: We present a case of oculocutaneous albinism in a child associating multiple malformations (preaxial polydactyly, small penis, cardiac malformation) and psychomotor retardation. To our knowledge, this association has not been previously described.     

Tolerance to Lower Body Negative Pressure Exposure: Comparison Between Patients with Neurocardiogenic Syncope and Controls

Lower body negative pressure exposure (LBNPE) produces hemodynamic modifications similar to those produced by head-up tilt test (HUT). Patients with vasovagal syncope are more susceptible to HUT than healthy persons. The supine position during LBNPE would facilitate the simultaneous performance of complementary methods. The aim of this study was to compare tolerance to LBNPE between a group of patients with vasovagal syncope and a group of healthy volunteers. Eleven patients with vasovagal syncope and positive HUT and 13 healthy volunteers without prior history of syncope and negative HUT were included. The following protocol was used: −10 mmHg, 1 minute; −20 mmHg, 1 minute; −30 mmHg, 3 minutes, and −40, −50, −60, and −70 mmHg, 5 minutes for each stage. Tolerance was expressed as: maximum tolerated negative pressure (Max NP), maximum tolerated time (Max T), and Σ P × T, where P = pressure and T = time. Syncope or presyncope during the test was considered positive LBNPE. LBNPE was positive at −50 or −60 mmHg in 8 of 11 patients (73%). One healthy volunteer had presyncope after 5 minutes at −70 mmHg. Tolerance, as expressed by any of the three parameters, was significantly higher for the healthy volunteers (Max NP: −59.1 ± 7.9 vs −70, P < 0.01; Max T: 19.1 ± 4.2 vs 24.4 ± 0.3, P < 0.01; Σ P × T: 836.3 ± 269.5 vs 1214.6 ± 18, P < 0.01). We conclude that patients with neurocardiogenic syncope have a significantly lower tolerance to LBNPE than subjects with no previous history of syncope.