Which conditions are included in the differential diagnoses of progressive bulbar palsy (PBP)?

Updated: Apr 28, 2014
  • Author: Hidehiro Takei, MD; Chief Editor: Adekunle M Adesina, MD, PhD  more...
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Answer

Answer

Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease are closely related conditions, and the only feature clearly distinguishing between them is the presence of deafness in patients with the former.

The differential diagnosis of Brown-Vialetto-Van Laere syndrome includes Fazio-Londe disease, Madras motor neuron disease (MMND), and Boltshauser syndrome (sensorineural hearing loss, distal muscular atrophy, and vocal cord paralysis, which is the only lower cranial nerve sign).

MMND has a unique geographic distribution (predominantly reported from Southern India) and clinically resembles Brown-Vialetto-Van Laere syndrome, except for the presence of UMN signs in addition to LMN signs in the majority of patients, a male predominance, and an uncommon familial inheritance (ie, mostly sporadic). [67]

In the differential diagnosis of Fazio-Londe disease, Roeleveld-Versteegh et al reported 2 pediatric cases of mitochondrial respiratory chain defects presenting as progressive bulbar paralysis. [68]


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