Affiliation:
1. Department of General Medicine, MGM Medical college and hospital, Navi Mumbai.
2. Department of General Medicine, MGM Medical college and hospital, Navi Mumbai
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
Subject
Organizational Behavior and Human Resource Management,Applied Psychology,Ecology, Evolution, Behavior and Systematics,Sociology and Political Science,Philosophy,Religious studies,Education,Library and Information Sciences,Museology,Information Systems,History,Visual Arts and Performing Arts,History and Philosophy of Science,Health Policy,General Medicine,Issues, ethics and legal aspects,General Medicine,Organic Chemistry,Drug Discovery,Pharmacology,Management, Monitoring, Policy and Law,Nature and Landscape Conservation,Ecology,Pharmacology (medical),Drug Discovery,Pharmaceutical Science,Pharmacology