PubMed · 16935898
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Chryssoula Thodi, Elias Thodis, Vassilis Danielides, Ploumis Pasadakis, Vassilis Vargemezis. 2006-08-25. Hearing in renal failure.. https://doi.org/10.1093/ndt%2Fgfl472
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Gaucher's disease is caused by a lack of glucocerebrosidase, and in type 2 various neurological symptoms can occur;however, the detailed pathogenesis of the condition remains undetermined. Here we performed neurophysiological examinations in an 18-month-old girl with Gaucher's disease type 2 to specify the brainstem lesions. Developmental delay occurred from the age of 8 months, and the patient subsequently showed strabismus, loss of head control, failure to thrive and irregular respiration. She was admitted to our hospital at the age of 18 months. A definite diagnosis of Gaucher's disease type 2 was made from the presence of Gaucher cells and reduced glucocerebrosidase activity. Clinically, limited ocular movements, poor facial expression and bulbar palsy indicated disturbances in the nuclei of oculomotor, trochlear, abducent, facial and ambiguous nerves, although magnetic resonance imaging (MRI) failed to visualize any structural changes in the brain including the brainstem. Neurophysiologically, auditory brainstem response and somatosensory evoked potential demonstrated lesions in the cochlear nucleus and medial lemniscus, respectively. On polysomnography, disturbed sleep parameters during rapid eye movement sleep, in addition to the lack of modification of respiratory patterns by sleep stage, suggested dysfunctions in the locus ceruleus, raphe nuclei and pontine reticular formations. It is likely that these neurophysiological tests can be useful to identify functional lesions that are not detectable by MRI, and should help exploit new treatments for child-onset neurodegenerative disorders such as Gaucher's disease.
The phase of the complex output of a narrow band Gaussian filter is taken to define the latency of the auditory evoked response M100 recorded by magnetoencephalography. It is demonstrated that this definition is consistent with the conventional peak latency. Moreover, it provides a tool for reducing the number of averages needed for a reliable estimation of the latency. Single-event latencies obtained by this procedure can be used to improve the signal quality of the conventional average by latency adjusted averaging.
AIMS: We present the results of the first 2 years of universal newborn hearing screening in Cantabria. MATERIAL AND METHODS: We performed a descriptive study of screening with two levels of transient evoked otoacoustic emissions in 8,836 newborns, diagnostic confirmation with auditory brainstem response, and treatment. RESULTS: The coverage of the first two levels of otoacoustic emissions was 98.4 % and 99.5 %. The incidence of risk factors was 3.08 %. A total of 6.7 % of those studied in the first stage were referred to the second, and 0.7 % of those studied in the second stage were referred to testing of auditory brainstem responses. Of the patents referred to the second stage, 97.6 % attended, and of those referred to the third stage 87.1 % attended. The positive predictive value after the second session of otoemissions was 7.9 %, and the false positive rate was 3.3 %. Sensorineural and bilateral hearing loss was diagnosed in 11 children, and permanent unilateral hypoacousia was diagnosed in one child, representing an incidence of 1.38/1,000 newborns. Sixty percent were diagnosed before the age of 3 months and 100 % before the age of 7 months. Fifty percent began treatment before the age of 6 months and 90 % before the age of 1 year. Of three cochlear implants indicated, two were implanted at 11 and 13 months. The cost was 1.3 3 per child screened and 867 3 for each case diagnosed. CONCLUSIONS: All the objectives of the first and second stages of screening were achieved. The continuity index anticipated for the third stage (87.1 vs 95 %) and access to treatment at 6 months (50 % vs 100 %) were less satisfactory, although these results compare favorably with those of previously published studies.