Progressive encephalomyelitis with rigidity and myoclonus (PERM)

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome (formerly stiff-man syndrome). It is rare and disabling, and characterised by brainstem symptoms, muscle stiffness, breathing issues and autonomic dysfunction. We describe a 65-year-old man who presented with odynophagia together with tongue and neck swelling, followed by multiple cranial nerve palsies culminating in bilateral vocal cord paralysis with acute stridor. He subsequently developed progressive generalised hypertonia and painful limb spasms. Serum antiglycine receptor antibody was strongly positive, but antiglutamic acid decarboxylase and other antibodies relating to stiff-person syndrome were negative. We diagnosed PERM and gave intravenous corticosteroids and immunoglobulins without benefit; however, following plasma exchange he has made a sustained improvement.

Arteriovenous access does not perform as well for plasmapheresis

Purpose Access surgeons are occasionally asked to create arteriovenous access for non-dialysis functions. Subjectively noting overall poor results, we seek to present our experience with arteriovenous access creation for apheresis. Methods Billing records were reviewed using Current Procedural Terminology (CPT) and International Classification of Diseases (ICD-9) codes to identify patients undergoing arteriovenous access creation for diseases other than renal failure from January 2007 to August 2014. Inpatient and outpatient records were reviewed to identify patient demographics, disease-specific medications/treatments, access-specific characteristics, patency data, and reinterventions required. Results A total of 16 access creation procedures were performed for 8 patients, accounting for just 1.6% of total access creations during the period. Treatment was for myasthenia gravis (n = 6), chronic inflammatory degenerative polyneuropathy (n = 9), and stiff man syndrome (n = 1). Access failure was by thrombosis (n = 7), non-maturation (n = 4), and infection/steal syndrome (n = 1), with four accesses still functional at conclusion of review. There was 50% autogenous access creation and overall maturation rate of 37.5%. Mean primary patency was 236 days (range 10-878), with secondary patency achieved in three patients adding a mean of 174 days (range 2-517). Cumulative 3-month and 1-year patency rates were 36.5% and 25%, respectively. Conclusions Arteriovenous access creation for plasmapheresis represents a minority of access procedures. Though it remains unclear why, patency and maturation rates are significantly lower than expected when compared to access for hemodialysis access. These high failure rates must be taken into account when considering replacement of temporary catheters with surgical access for non-hemodialysis needs.

Stiff Man Syndrome: A Diagnostic Dilemma in a Young Female with Diabetes Mellitus and Thyroiditis

Stiff Person Syndrome (SPS), is a very rare neuroimmunologic disorder characterized by progressive muscle pain, rigidity, stiffness, and spasms. It can be very debilitating if misdiagnosed or not recognized in time. Herein we discuss a case of a female in her 20s who presented with an unsteady gait, lower extremity weakness, persistent leg pain, and stiffness few weeks after uncomplicated childbirth. She has type 1 diabetes mellitus (DM) and was diagnosed with thyroiditis in the course of her illness. The triad of thyroiditis, DM, and stiffness with normal neuroimaging in a young female patient is an unusual occurrence.