The multiple roles of nerve biopsy in the diagnosis and prognosis of suspected immune neuropathies.

INTRODUCTION: The value of a sural nerve biopsy for the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is controversial. Evidence-based recommendations for its implementation are lacking. We investigated factors leading to biopsy and analyzed biopsy outcomes and consequences, assessed the predictability of biopsy outcomes through clinical parameters to avoid unnecessary biopsies, and compared results with electrophysiological and clinical severity to determine their prognostic value. METHODS: 190 sural nerve biopsies were analyzed in two cohorts. One consisted of 163 biopsies and the second of 72 biopsies from the prospective Immune-mediated Neuropathies Biomaterial and Data registry (INHIBIT). Both have an intersection of 45 patients. 75 data sets from patients without biopsy were used. Analysis of nerve conduction studies, treatment, overall disability sum score (ODSS), biopsy outcomes, and diagnosis was performed. RESULTS: 51% of biopsied patients received the diagnosis CIDP (77% fulfilled EFNS/PNS criteria), 21% were not CIDP typical, and 27% were unspecific. Biopsied patients responded less frequently to immunotherapies at time of biopsy than non-biopsied patients (p = 0.003). Immunotherapy was initiated more frequently after biopsy (p < 0.001) and more often with intravenous immunoglobulins (p < 0.0001). 76% of all biopsied patients met the electrophysiological criteria for CIDP. Sensory nerve action potential amplitudes of 0 µV still provide 73% of histological diagnostic value. Histologic signs of degeneration predicted ODSS worsening after 1 year (p = 0.028) but disease severity did not correlate with histological damage severity. DISCUSSION: The main indication for nerve biopsy was the treatment of refractory cases of autoimmune neuropathies with the therapeutic consequence of treatment initiation or escalation. Sural biopsy also provided prognostic information. Even with extinguished sural SNAP, the biopsy can still have diagnostic value.

Accompanying migrainous features in pediatric migraine patients with restless legs syndrome.

The present study aimed to examine the frequency of restless legs syndrome (RLS) in pediatric patients with migraine and tension-type headache (TTH) and to investigate accompanying migrainous symptoms, sleep characteristics, as well as levels of serum ferritin between the pediatric migraine patients with RLS and those without RLS. We included 65 consecutive patients diagnosed with migraine, 20 patients with TTH, and 97 headache-free children in our study. Demographic, clinical, and laboratory data were noted. The presence of a primary headache was diagnosed using the ICHD-II criteria, and RLS was determined with face-to-face interviews conducted by an experienced neurologist based on the revised International RLS Study Group criteria for pediatrics. The frequency of RLS in pediatric migraine and TTH patients was significantly higher than in the controls (p = 0.0001 and p = 0.025, respectively). The frequencies of allodynia, vertigo/dizziness, and self-reported frequent arousals were significantly higher, and serum ferritin levels were significantly lower in migraine patients with RLS compared to those without RLS (p = 0.05, p = 0.028, p = 0.02, and p = 0.038, respectively). Our study suggests that the frequency of RLS is higher in pediatric migraine and TTH patients compared to controls. Therefore, pediatric headache patients should be questioned about the presence of RLS, as this co-occurrence may lead to more frequent accompanying migrainous symptoms and sleep disturbances.

Cytokine Polymorphism and HLA Genotyping in Patients with Temporal Lobe Epilepsy Related to Hippocampal Sclerosis.

OBJECTIVE: Hippocampal sclerosis (HS) is the most common pathological substrate associated with mesial temporal lobe epilepsy (MTLE), where inflammatory processes are known to play an increasingly important role in the pathogenesis. To further investigate the role of the immune system, both cytokine gene polymorphisms and human leukocyte antigen (HLA) genotyping in patients with MTLE-HS were investigated. METHODS: The DNA samples of 100 patients with MTLE-HS and 201 healthy individuals were genotyped for cytokines (IL-6,IL-10, TNF-α, TGF-ß1 and IFN-γ) and HLA using polymerase chain reaction (PCR)-SSP and SSO methods. The results were statistically analyzed in patient and healthy control groups and then according to the presence of febrile seizures (FS) in the patient group. RESULTS: Analysis of cytokine genotyping did not reveal any significant difference between patients with MTLE-HS and controls and patients with or without FS. However, the HLA DRB1*13 allele was found to be more frequent in the patient population after Bonferroni correction. CONCLUSION: This study suggests the possible role of HLA in the pathogenesis of MTLE-HS, although it failed to show any relationship with the cytokine system. However, data regarding the role of HLA are still lacking, and further studies are necessary to verify our results.