ABSTRACT
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.
Subject(s)
Hereditary Sensory and Motor Neuropathy/genetics , Hereditary Sensory and Motor Neuropathy/pathology , Myelin Proteins/genetics , Ulnar Nerve Compression Syndromes/genetics , Ulnar Nerve Compression Syndromes/pathology , Adolescent , Chromosomes, Human, Pair 17 , Elbow Joint/innervation , Gene Deletion , Humans , Male , Median Neuropathy/genetics , Median Neuropathy/pathology , TurkeyABSTRACT
Variations in the medial triceps in conjunction with bilateral ulnar neuropathy have been identified in three generations of one family also possessing the phenotype of Waardenburg syndrome (a rare autosomal-dominant disorder with clinical features including cochlear deafness, dystopia canthorum, and pigmentation problems). To our knowledge, no other inherited condition with triceps anomalies has been reported. Study of this family provided insight into the relationship between dislocating medial triceps and ulnar neuropathy and demonstrated that a broad spectrum of clinical presentations exists-from being completely asymptomatic to producing symptomatic snapping and ulnar neuropathy.
