کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3054073 | 1580021 | 2014 | 4 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features](/preview/png/3054073.png)
We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, progressive bulbar palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit.Neurophysiological studies demonstrated a motor neuronopathy involving anterior horn cells and cranial nerve nuclei and abnormal brainstem auditory evoked potentials, leading to a diagnosis of Brown-Vialetto-van Laere Syndrome, confirmed by genetic testing (SLC52A3). Magnetic Resonance Imaging showed signal changes in the dorsal column of the spinal cord. She developed a coarse face and abnormal hair pattern.Sustained clinical improvement has been observed during almost 4 years of high-dose riboflavin therapy.
Journal: European Journal of Paediatric Neurology - Volume 18, Issue 2, March 2014, Pages 231–234