Search results for "Vestibular Diseases"
showing 10 items of 24 documents
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
2020
Abstract Background Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) and Kabuki syndrome type 2 (MIM# 300867), can be associated with neonatal hyperinsulinemic hypoglycemia. Patient presentation We report a female Italian (Sicilian) child, born preterm at 35 weeks gestation, with persistent hypoglycemia. Peculiar facial dys…
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
2017
IF 3.326; International audience; Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI…
Obstructive sleep apnoea syndrome (OSAS): effects on the vestibular system
2010
SUMMARY Aim of the present study was to evaluate the effects of obstructive sleep apnoea syndrome (OSAS) on the peripheral and central vestibular system, by means of a case series prospective study at the University referral centre of Otolaryngology Head and Neck Surgery; 45 consecutive patients suffering from OSAS were compared with a control group of 30 volunteer subjects selected from among the department employees. Severity of the disease was evaluated by means of cardio-respiratory function monitoring during sleep; the apnoea-hypopnoea index was calculated. Both groups underwent: 1) head and neck examination; 2) fibre-optic examination; 3) pure tone audiometry; 4) evaluation of eye mov…
Evidence for cortical visual substitution of chronic bilateral vestibular failure (an fMRI study).
2007
Bilateral vestibular failure (BVF) is a rare disorder of the labyrinth or the eighth cranial nerve which has various aetiologies. BVF patients suffer from unsteadiness of gait combined with blurred vision due to oscillopsia. Functional MRI (fMRI) in healthy subjects has shown that stimulation of the visual system induces an activation of the visual cortex and ocular motor areas bilaterally as well as simultaneous deactivations of multisensory vestibular cortex areas. Our question was whether the chronic absence of bilateral vestibular input (BVF) causes a plastic cortical reorganization of the above-described visual-vestibular interaction. We used fMRI to measure the differential effects of…
Static posturography with dynamic tests. Usefulness of biomechanical parameters in assessing vestibular patients.
2012
Abstract Introduction and objective Posturography allows us in evaluating postural control. This study showed the posturographic parameters that were useful for assessing the functional ability to maintain balance in our sample of vestibular patients. Material and methods Of a total of 89 patients, 59 were healthy subjects and 30 had a peripheral vestibular disorder. The subjects were studied using the posturographic NedSVE/IBV system, combining static (Romberg) and dynamic (stability limits and rhythmic weight shifts) tests. We then compared the measurements found in the groups. Results Normal subjects showed significantly lower oscillations than our patients in all of the posturographic p…
Preserved visual-vestibular interaction in patients with bilateral vestibular failure
2004
Background: During caloric vestibular stimulation, subjects showed bilateral activation of the vestibular cortex in the posterior insula and retroinsular region as well as concurrent deactivation of visual cortex areas bilaterally. This finding was the basis for the concept of a reciprocal inhibitory interaction between the vestibular and the visual systems. Objective: To analyze the modulations of this activation and deactivation pattern in patients with loss of vestibular input, that is, in patients with bilateral vestibular failure (BVF). Methods: Modulations of regional cerebral blood flow (rCBF) in PET were measured in nine patients with BVF and compared with those in healthy volunteer…
Immunosuppressive treatment in bilateral vestibulopathy with inner ear antibodies.
2005
Although vestibular recovery was observed after steroid treatment, it remains uncertain whether this improvement was spontaneous or due to medication. These data do not allow us to generally recommend corticosteroid treatment in patients with BVF and inner ear antibodies.A retrospective study was performed based on the observation of two patients with suspected autoimmune bilateral vestibular failure (BVF) with normal hearing and antilabyrinthine or nervous tissue-specific serum antibodies who showed vestibular recovery after corticosteroid treatment.Twelve patients with BVF and serum inner ear antibodies who had received imuunosuppressive treatment with corticosteroids were evaluated in te…
Comparison of Electrocochleography and Video Head Impulse Test findings in Vestibular Migraine and Ménière Disease: A Preliminary Study
2020
OBJECTIVES: To evaluate electrophysiological findings among patients with vestibular migraine (VM) and to compare them with those of patients suffering from definite Ménière disease (MD) without migraine. MATERIALS and METHODS: Twenty-one consecutive patients suffering from VM were enrolled; all subjects were selected according to the criteria proposed by the Bàràny Society for Neuro-otology. Each patient underwent a careful otological and neurotological examination. After completing a questionnaire regarding migraine and vertigo complaints, they were assessed by audiometric testing, video head impulse test (vHIT), and elec-trocochleography (EcochG). Data were compared with those of 21 pati…
Pontine lesions mimicking acute peripheral vestibulopathy
1999
OBJECTIVES Clinical signs of acute peripheral vestibulopathy (APV) were repeatedly reported with pontine lesions. The clinical relevance of such a mechanism is not known, as most studies were biased by patients with additional clinical signs of brainstem dysfunction. METHODS Masseter reflex (MassR), blink reflex (BlinkR), brainstem auditory evoked potentials (BAEPs), and DC electro-oculography (EOG) were tested in 232 consecutive patients with clinical signs of unilateral APV. RESULTS Forty five of the 232 patients (19.4%) had at least one electrophysiological abnormality suggesting pontine dysfunction mainly due to possible vertebrobasilar ischaemia (22 patients) and multiple sclerosis (ei…
Testing utricular function by means of on-axis rotation
2005
Subjective visual vertical (SVV) estimation during on-axis rotation provides an efficient screening test of utricle function. The survey demonstrates that isolated disorders of peripheral utricular function can occur while SCC function appears normal.The present study aimed to investigate estimation of SVV during constant velocity yaw rotation (with the head held on-axis--to enhance any asymmetry between right and left utricular responses), as a useful screening test.In all, 230 patients were recruited from the dizziness clinic. For each patient, the SVV was estimated (a) while held stationary, and (b) during constant angular velocity (240 degrees/s), with the head centred on-axis. Bitherma…