Details

Autor(en) / Beteiligte

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

Titel

Pontobulbar Palsy and Neurosensory Deafness (Brown-Vialetto-van Laere Syndrome) With Hyperintense Brainstem Nuclei on Magnetic Resonance Imaging: New Finding in Three Siblings

Ist Teil von

• Journal of child neurology, 2006-06, Vol.21 (6), p.523-525

Ort / Verlag

United States: SAGE Publications

Erscheinungsjahr

2006

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 newfeaturesdescribedin this report.(J Child Neurol 2006;21:523—525; DOI 10.2310/7010.2006.00096).