Abstract
A 12-month-old boy with progressive cranial nerve palsies followed by ventilatory
failure demanding artificial ventilation, generalized muscle weakness, and rapid progression
to death at the age of 21 months is described. The patient had normal early development
and also apparently normal hearing at presentation of illness but, after 6 months
of the onset of the disease, hearing loss was documented by brainstem auditory evoked
potentials (BAEP). Although the initial clinical and laboratory findings of this infant
could fit with the diagnosis of progressive childhood bulbar palsy or Fazio-Londe
(FL) disease, the subsequent appearance of hearing loss suggests that this patient
represents a case of progressive bulbar palsy with perceptive deafness or Brown-Vialetto-Van
Laere (BVVL) syndrome. To our knowledge, this case of BVVL syndrome with severe clinical
features and rapid deterioration leading to death is the youngest one reported in
the literature. Furthermore, this case emphasizes the need for repeated auditory examinations,
including the performance of BAEP in all cases, especially infants and young children
with progressive bulbar palsy.
Keywords
Abbreviations:
BVVL syndrome, Brown-Vialetto-Van Laere syndrome (), FL disease, Fazio-Londe disease (), BAEP, brainstem auditory evoked potentials (), CSF, cerebrospinal fluid (), SMA, spinal muscular atrophy ()To read this article in full you will need to make a payment
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References
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Article info
Publication history
Accepted:
May 30,
2002
Received in revised form:
May 30,
2002
Received:
January 30,
2002
Identification
Copyright
© 2002 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
