Neuromyotonia in a 16-year-old female with dramatic improvement after IVIG therapy: Case report and literature review.

Neuromyotonia, also known as Isaac syndrome, is a rare neurological disorder characterized by continuous muscle activity, stiffness, and spontaneous muscle contractions, it is very rare in children. We report a 16-year-old female patient with neuromyotonia. She presented with pain, stiffness, autonomic symptoms and muscle myokymia in both lower limbs.

Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare autoimmune neurological disorder seen in both pediatric and adult populations. CIDP typically presents with progressive and persistent weakness over at least 4 weeks in addition to sensory symptoms in the extremities. Although CIDP shares common clinical features between children and adults, it sometimes presents as a distinct clinical entity in children that requires close attention and recognition.

Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.

LAMB2 gene disorders present with different phenotypes. Pierson syndrome (PS) is a common phenotype associated with LAMB2 variants. Neuromuscular phenotype has been reported including hypotonia and developmental delay.

Pain perception during electrodiagnostic studies and the impact of learners.

Introduction/aims: Electrodiagnostic testing (EDX) may be perceived as painful, which may influence patient expectations and test completion. Our aim was to characterize which component of the EDX was more painful, and to determine if any factors, particularly performance by a learner, influenced this perception.

Methods: Participants were prospectively recruited and completed a brief questionnaire to rate their perception of pain before and after each component of the EDX.