ABSTRACT
A síndrome de Brown-Vialleto-van Laere é entidade degenerativa hereditária ou esporádica, rara, caracterizada por surdez neuro-sensorial seguida ou acompanhada por uma variedade de alteraçoes de nervos cranianos, podendo ainda ocorrer acometimento de corno anterior e vias ópticas. Relatamos dois casos de discutimos o diagnóstico diferencial da síndrome com as atrofias espinhais e surdez hereditária.
Subject(s)
Humans , Male , Female , Child , Adolescent , Bulbar Palsy, Progressive/complications , Deafness/etiology , Bulbar Palsy, Progressive/cerebrospinal fluid , Bulbar Palsy, Progressive/genetics , Cranial Nerves/physiopathology , Deafness/cerebrospinal fluid , Deafness/genetics , SyndromeABSTRACT
In 10 patients with amyotrophic lateral sclerosis (ALS), the CSF content of the neuropeptides vasoactive intestinal polypeptide (VIP) and cholecystokinin (CCK) as well as neural cell adhesion molecule (NCAM) was investigated. Compared with normal controls, no deviations were found in CCK or NCAM, while the values of VIP were significantly lower in ALS patients. This finding may reflect a loss of motor neurons.
