Hereditary neuropathy with liability to pressure palsy in childhood.
HNPP is an autosomal-dominant inherited disease clinically characterized by painless, episodic, recurrent peripheral palsy often preceded by minor trauma or toxic damage. It generally develops during adolescence and rarely is reported in childhood. We observed two children with this disease. In one of the cases, also the child's mother is suffering from HNPR Clinical and genetic characteristics of our three patients are summarized in this article.
György
Ilona
I
Department of Pediatrics, University of Debrecen, H-4032 Debrecen, Nagyerdei krt. 98. Hungary. gyorgy@dote.hu
Bíró
Anna
A
Mechler
Ferenc
F
Molnár
Mária Judit
MJ
D000328:Adult; D002648:Child; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*
D009185:Myelin Proteins; C073687:PMP22 protein, human