Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.

: Baraitser-Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser-Winter type 1 (BRWS1) and type 2 (BRWS2) produced by specific pathogenetic variants of two different genes, ACTB for BRWS1 and ACTG1 for BRWS2. In addition to syndromic BRWS2, some pathogenic variants in ACTG1 are associated also to another pathologic entity, the "Autosomal dominant non-syndromic hearing loss 20/26".

Pseudo-spontaneous nystagmus increases Bow and Lean Test accuracy.

Object: The aim of this study was to evaluate the effectiveness of the Bow and Lean Test (BLT) based on nystagmus intensity and direction evaluation (NID-BLT) in the diagnosis of benign paroxysmal positional vertigo of the lateral semicircular canal (LSC-BPPV). We hypothesised that the presence of a pseudo-spontaneous nystagmus increases the diagnostic accuracy of the test.

Methods: The BLT was performed in 32 subjects affected by LSC-BPPV.

Different time course of compensation of subjective visual vertical and ocular torsion after acute unilateral vestibular lesion.

Purpose: Time course of the recovery of otolithic dis-function caused by superior vestibular neuritis has been examined in fifteen patients.

Methods: The subjective visual vertical (SVV) and the ocular cyclotorsion (OT) have been measured four times after the acute episode up to 1 year RESULTS: In most of the patients the SVV tilt returned to control values within few months (3-6 months) after the acute episode, while OT remained out of normal range in almost all patients a year later.

Conclusion: The abnormal OT observed after 1 year from the acute episode of vestibular neuritis, suggests that the otolithic receptors remained altered for several months and the OT may be a good indicator of the entity of the residual peripheral otolithic lesion.