Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: New finding in three siblings

Roshan Koul*, Rajeev Jain, Alexander Chacko, Amna Alfutaisi, Javad Hashim, Jacob Chacko

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

13 اقتباسات (Scopus)

ملخص

Three siblings (one boy and two girls) with Brown-Vialetto-van Laere syndrome are reported. A peculiar feature of onset with hearing loss in a patient with multiple cranial nerve palsies and a positive family history suggests this diagnosis. In our family, an autosomal recessive mode of inheritance was seen. In addition, we observed that early onset was associated with rapid deterioration and death. Optic nerve involvement and hyperintensity of the brainstem nuclei on magnetic resonance imaging (MRI) are two new features described in this report.

اللغة الأصليةEnglish
الصفحات (من إلى)523-525
عدد الصفحات3
دوريةJournal of Child Neurology
مستوى الصوت21
رقم الإصدار6
المعرِّفات الرقمية للأشياء
حالة النشرPublished - يونيو 2006

ASJC Scopus subject areas

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بصمة

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