paroxysmal extreme pain disorder

An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3.

Signs and symptoms

• Rhinorrhea
• Bradycardia
• Flushing
• Ocular pain
• Anal pain
• Mandibular pain
• Tachycardia
• Lacrimation abnormality
• Impaired pain sensation

Also known as: PEPD; PEXPD; familial rectal pain; submandibular, ocular and rectal pain with flushing