A CASE REPORT OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Abstract

Hereditary neuropathy with liability to pressure palsy is an autosomal dominant demyelinating disorder. In individuals with numerous compressive neuropathies, hereditary neuropathy with liability to pressure palsies (HNPP) should be taken into consideration.Here We present a case of 49-year-old man who exhibited right upper and lower extremity weakness with tingling and numbness of right upper limb and lower limb. Electrophysiological studies showed widespread, multifocal, motor > sensory, chronic peripheral neuropathy affecting the upper and lower limbs.Type: demyelinating >> axonal.Genetic studies showed Heterozygous deletion of PMP22 gene (upstream, exons 1-5) along with anking regions encompassing TEKT3 and COX10 genes were detected.Treatment for this usually self-limiting illness is debatable, in this instance, patient was managed conservatively following which there is an improvement in patient condition