Neuropatía hereditaria con predisposición a la parálisis por compresión: presentación de casos clínicos y electrofisiológicos / Hereditary neuropathy with liability to pressure palsies: presentation of clinical and electrophysiological cases
Rev. Hosp. Clin. Univ. Chile
;
20(3): 189-193, 2009. tab
Article
in Spanish
| LILACS
| ID: lil-620970
ABSTRACT
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal dominant neuropathy characterized by recurrent episodes of painless multiple nerve entrapments. We present five cases of HNPP confirmed by clinical and electrophysiological studies. Genetic confirmation of the diagnosis was performed in only one of the cases, given the fact that there are no laboratories performing this test inChile. This emphasizes the importance of electrophysiological diagnostic suspicion and the need for electrophysiological studies in family members even when asymptomatic.
Full text:
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Index:
LILACS (Americas)
Main subject:
Hereditary Sensory and Motor Neuropathy
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Spanish
Journal:
Rev. Hosp. Clin. Univ. Chile
Journal subject:
Medicine
Year:
2009
Type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Hospital Clínico Universidad de Chile/CL
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