Introduction Causes of small‐fiber peripheral neuropathies (SFN) are often undefined. In this study we investigated associations of serum autoantibodies, immunoglobulin G (IgG) vs fibroblast growth factor receptor‐3 (FGFR‐3), and immunoglobulin M (IgM) vs trisulfated heparan disaccharide (TS‐HDS) in cryptogenic SFN. Methods One hundred fifty‐five patients with biopsy‐proven SFN and no identified cause for their neuropathy were blindly tested for serum IgM vs TS‐HDS and IgG vs FGFR‐3. Results Forty‐eight percent of SFN patients had serum antibodies, 37% with IgM vs TS‐HDS and 15% with IgG vs FGFR‐3. TS‐HDS antibodies were more frequent in SFN patients than in controls (P = .0012). Both antibodies were more common in females, and with non–length‐dependent nerve pathology. Nintey‐two percent of patients with acute‐onset SFN had serum IgM vs TS‐HDS. Discussion Autoantibodies directed against TS‐HDS and FGFR‐3 suggest an immune disorder in otherwise idiopathic SFN. Serum IgM vs TS‐HDS may be a marker for SFN with an acute onset.

This case report describes an acute onset of non-length-dependent SFN potentially related to human papillomavirus vaccine administration. Literature review includes several similar case studies, and various pathological processes have been proposed for vaccine-associated polyneuropathies. Some theories describe immune-mediated hypersensitivity to the solvents/adjuvants and/or invasion of nervous system through a prolonged, less virulent infection. However, the lack requires that evidence must be carefully reviewed.

The role of autoimmune mechanisms in idiopathic small fiber neuropathy (SFN) is not completely understood. Serum IgM binding to trisulfated disaccharide IdoA2S-GlcNS-6S (TS-HDS) and IgG to fibroblast growth factor receptor 3 were associated with sensory motor polyneuropathies and sensory neuronopathy among others. In this retrospective case review, we describe the clinical and laboratory findings of idiopathic SFN in a small cohort of pediatric patients. Eight children were diagnosed with SFN clinically and confirmed by reduced epidermal nerve fiber density. No involvement of large fibers was confirmed by clinical examination and electrophysiological tests. Possible triggering factors were infectious mononucleosis in 4 patients and human papilloma virus vaccination in 1 patient. Tilt table test was positive in 1 patient, and clinical autonomic dysfunctions were noted in 6 patients. Five patients had positive IgM against TS-HDS, 3 of whom had lower extremity predominant paresthesia. In conclusion, a high proportion of patients with idiopathic SFN in our cohort had a positive IgM TS-HDS antibody.

BackgroundCreutzfeldt–Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disease that almost always results in death in under a year from onset of symptoms. Here, we report four cases of CJD with different clinical presentations diagnosed at our institution over a 2-year period.CasesThe first patient is an 82-year-old woman who presented with depression, cognitive decline, and word-finding difficulty over 4 weeks. The patient deteriorated neurologically to akinetic mutism and death within 6 weeks of presentation. The second patient is a 54-year-old woman with liver cirrhosis who presented with confusion, ataxia, and multiple falls over 4 weeks. She was treated initially for hepatic encephalopathy but continued to progress to mutism, startle myoclonus, and obtundation. Death occurred within 4 weeks of presentation. The third patient is a 58-year-old woman who presented with an 8-week history of confusion, urinary incontinence, Parkinsonism, ataxia, and myoclonus. Death occurred within 2 months from presentation. The fourth patient is a 67-year-old man who presented with a 6-week history of headache, blurred vision, ataxia, and personality change and progressed to confusion, myoclonus, akinetic mutism, and obtundation. Death occurred within 3 weeks from presentation.ConclusionThese four cases highlight the varied possible clinical presentations of CJD and demonstrate the importance of considering CJD in patients with atypical presentations of rapidly progressive cognitive decline. To diagnose CJD, brain biopsy remains the gold standard. However, the presence of CSF protein 14-3-3, typical MRI findings and suggestive EEG abnormalities, all support the diagnosis.

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