TY - JOUR
T1 - Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging
T2 - New finding in three siblings
AU - Koul, Roshan
AU - Jain, Rajeev
AU - Chacko, Alexander
AU - Alfutaisi, Amna
AU - Hashim, Javad
AU - Chacko, Jacob
PY - 2006/6
Y1 - 2006/6
N2 - 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.
AB - 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.
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U2 - 10.2310/7010.2006.00096
DO - 10.2310/7010.2006.00096
M3 - Article
C2 - 16948939
AN - SCOPUS:33746038554
SN - 0883-0738
VL - 21
SP - 523
EP - 525
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 6
ER -