ABSTRACT
Introduction: Peripheric nerve hyperexcitability (PNH) syndromes are a rare, heterogenous group of diseases characterized by continuous muscle overactivity due to spontaneous discharges of the lower motor neurons. Case Series: Here we report four patients presented with painful cramps, generalized muscle twitches and lower extremity weakness. All patients had evidence of neuropathy and neuromyotonic discharges on electrodiagnostic studies. Screening for a broad panel of anti-neuronal antibodies proved uncharacterized neuropil antibodies in one patient. Despite extensive serologic and genetic investigations, no definitive etiology was found in our cohort. One out of three patients responded well to immunotherapy. No other diseases including malignancy appeared for 1.5-3 years follow-up duration. Conclusion: Our case series indicate a putatively high prevalence of neuropathy in PNH and emphasize anti-neuronal antibody positivity and early diagnosis as potential favorable prognostic factors.
ABSTRACT
OBJECTIVE: The aim of this study was to investigate cranial magnetic resonance imaging (MRI) findings in different age groups and genders in pediatric epilepsy, to determine the percentages of etiologic factors, and to evaluate the association between MRI positivity and treatment resistance. METHODS: Cranial MRIs of 359 patients with epilepsy aged 1 month to 18 years were retrospectively evaluated. Etiologic factors as an underlying cause of epilepsy were classified as previous parenchymal damage, hippocampal sclerosis, malformations of cortical development, tumor, neurocutaneous syndrome, myelination disorder, vascular anomaly, metabolic/genetic/neurodegenerative diseases, encephalitis, and an uncategorized "other" group. Data were transferred to IBM SPSS Statistics 25.0 (SPSS Inc., Chicago, IL, USA), and descriptive statistics, correlation analyses, chi-square, and t-tests were performed. RESULTS: Among the patients included in the study, 141 (39.3%) had pathological findings on MRI related to the etiology. Previous parenchymal damage (39.7%) was the most common etiologic cause in all age groups. Regarding the relationship between drug resistance and MRI positivity, MRI positivity was observed in 72% of drug-resistant cases, while a complete response to therapy was found in 67.6% of MRI-negative cases. CONCLUSION: MRI guides clinicians to determine the presence of an etiologic factor as the underlying cause of childhood epilepsy before treatment planning. MRI positivity is a remarkable indicator of response to antiseizure drug treatment and drug resistance.