Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant nerve disease usually caused by 1,5 Mb deletion on chromosome 17p11.2.2-p12, the region where the PMP-22 gene is located. The patients with HNPP usually have relapsing and remitting entrapment neuropathies due to compression. We present a 14-year-old male who had acute onset, right-sided ulnar nerve entrapment at the elbow. He had electrophysiological findings of bilateral ulnar nerve entrapments (more severe at the right side) at the elbow and bilateral median nerve entrapment at the wrist. Genetic tests of the patient demonstrated deletions in the 17p11.2 region. The patient underwent decompressive surgery for ulnar nerve entrapment at the elbow and completely recovered two months after the event. Although HNPP is extremely rare, it should be taken into consideration in young adults with entrapment neuropathies.
Celik
Yahya
Y
Trakya University School of Medicine Neurology, Edirne, Turkey. celikyahyatr@yahoo.com
Kilinçer
Cumhur
C
Hamamcioğlu
M Kemal
MK
Balci
Kemal
K
Birgili
Bariş
B
Cobanoğlu
Sebahattin
S
Utku
Ufuk
U
D000293:Adolescent; D002886:Chromosomes, Human, Pair 17; D004551:Elbow Joint / Q000294:innervation; D017353:Gene Deletion; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D020423:Median Neuropathy / Q000235:genetics / Q000473:pathology; D009185:Myelin Proteins / Q000235:genetics*; D014421:Turkey; D017769:Ulnar Nerve Compression Syndromes / Q000235:genetics* / Q000473:pathology*
D009185:Myelin Proteins; C073687:PMP22 protein, human