Hereditary sensory and autonomic neuropathy type 1B

Definition

A rare hereditary sensory and autonomic neuropathy characterized by adult-onset chronic, paroxysmal and dry cough and gastro-oesophageal reflux preceeding the neuropathy. Cough is usually triggered by noxious odors, inhalation of fumes, eating dry food, lying flat or tactile stimulation of external auditory canal, and it may progress into cough syncope. Frequent throat clearing and hoarse voice may also be present. Gastro-oesophageal reflux usually presents with mild heartburn, however regurgitation and acid brash are reported in more severe cases. Sensory neuropathy symptoms develop later in life (between the third and fifth decades) with variable severities. Patients may have sensory loss in the upper and lower limbs, lancinating pains, superficial painless injuries or truncal neuropathy. Bilateral high frequency sensorineural hearing loss is common. Additional clinical features may include retinal detachment, alacrima, urinary urgency, constipation and impotence. Nerve biopsy showed loss of unmyelinated and myelinated axons.