Chronic inflammatory demyelinating polyradiculoneuropathy is commonly misdiagnosed. It is important to adhere to established diagnostic criteria and to regularly re-evaluate all patients given this diagnosis.
Gluten neuropathy should be suspected in any patient who presents with a neuropathy and has a history of gastrointestinal disease. The diagnosis is made using blood serology plus intestinal mucosal biopsy.
Hereditary transthyretin-mediated amyloidosis with polyneuropathy is effectively treated by patisiran, a lipid nanoparticle ribonucleic acid interference that binds to transthyretin (TTR) messenger RNA and inhibits TTR production in the liver, resulting in reduction of the serum TTR concentration. Treatment effect has been sustained during a five-year open-label extension study.
Cranial nerves are infrequently involved in typical chronic inflammatory demyelinating polyneuropathy, but involvement is more common in multifocal acquired demyelinating sensory and motor neuropathy (about 50%). The facial nerve is the most commonly affected cranial nerve, often bilateral.
Wild-type transthyretin amyloidosis, referred to as “senile” amyloidosis previously, usually occurs in the aging population and affects the peripheral nerves and the heart. Usually, neurological symptoms precede cardiac symptoms.
The neuromuscular syndromes caused by BSCL2 gene mutations may mimic several other disorders, including Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis.
As the COVID-19 pandemic spreads around the world, investigators in multiple countries are reporting patients with myriad cranial and peripheral nerve disorders that have some, but not all, features of Guillain-Barré syndrome.
Small fiber neuropathy is a common disorder that causes chronic pain, but rarely progresses to disability or more severe neurological disorders. Management of the pain continues to be the major treatment challenge.
Anterior interosseous nerve syndrome is part of the median neuropathy spectrum and often has been attributed to compression near the elbow. Modern magnetic resonance neurography and ultrasound studies have ruled-out compression in most cases.
