Infantile progressive bulbar palsy

Definition

Infantile progressive bulbar palsy is a rare neurological disorder that occurs in children. Infantile progressive bulbar palsy presents as following two forms. The Brown-Vialetto-Van Laere syndrome (BVVLS) is characterized by progressive pontobulbar palsy associated with sensorineural deafness. The same clinical presentation without deafness is also known as Fazio Londe disease. Both are caused by mutation in the RFT2 gene.

References:

[1]. Annet M Bosch, et al. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011 Feb;34(1):159-64. [Content Brief]

[2]. Konstantinos A Voudris, et al. Infantile progressive bulbar palsy with deafness. Brain Dev. 2002 Oct;24(7):732-5. [Content Brief]

[3]. Sivakumar Sathasivam, et al. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008 Apr 17;3:9. [Content Brief]

[4]. Subrahmanian Dipti, et al. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev. 2005 Sep;27(6):443-6. [Content Brief]

生物医学辞典

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