Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 84

Abstract

The aim of the study is to determine the site of autonomic lesion in a patient with Holmes‐Adie Syndrome (HAS) who subsequently developed generalized anhydrosis. We describe a 38‐year‐old woman who from age 33 showed a right pupil larger than the left and from age 34 complained of focal and, a year later, generalized anhydrosis. Neurological examination showed absent tendon reflexes and right mydriatic pupil. Brain MRI, EEG, motor and sensory conduction studies were normal. Serologic screening for autoimmune disease was negative. To determine the site of the autonomic lesion the patient underwent the following investigations: pupillary tests with a diluted solution of pilocarpine (0.062%) and adrenaline (0.1%); cardiovascular reflexes; thermoregulatory sweat test (TST); circadian rhythm of body core temperature (CRT°); sympathetic skin response (SSR); microneurography recording of skin sympathetic activity (SSA) from median and peroneal nerves, and muscle sympathetic activity (MSA) from peroneal nerve; skin biopsy to evaluated the eccrine glands. Pupillary tests showed postganglionic parasympathetic and sympathetic denervation only of the right pupil. TST showed complete anhydrosis, SSR and SSA were absent and skin biopsy revealed normal morphology of the eccrine glands with hypotrophy of their structures. These results indicated a lesion of the postganglionic skin sympathetic fibers. Mechanisms for heat loss and conservation, cardiovascular reflexes and MSA were normal excluding a hypothalamic dysfunction or a more diffuse involvement of the autonomic nervous system. In conclusion, our patient showed a HAS associated with generalized anhydrosis and the autonomic investigations suggested underlying postganglionic parasympathetic and sympathetic autonomic lesions.