A case of Seronegative Acetylcholine-Receptor Autonomic Autoimmune Neuropathy

Souheil Edmond Gebeily,Ahmad Houjeiri

doi:10.21767/2471-8153.100009

Abstract

Autonomic neuropathies may occur primarily or secondarily to various underlying diseases. Autoimmune autonomic neuropathy also called autoimmune autonomic ganglionopathy is a rare acquired autoimmune neuropathy characterized by pandysautonomia, usually associated to autoantibodies to ganglionic nicotinic acetylcholine receptors found in more than 50% of cases. Neurogenic orthostatic hypotension is a major symptom of dysautonomia and may cause serious impairment in patients' quality of life. We present a case of autonomic autoimmune neuropathy in a seronegative patient for acetylcholine receptors antibodies with good recovery after treatment with IVIg, raising the issue of some forms of pure autonomic failure which can have identical phenotype, respond similarly to immunotherapy, but may be related to antibodies directed at different targets in nerve or ganglion.

Highlights

Autoimmune autonomic ganglionopathy (AAG) is a rare acquired pan-dysautonomia, in which autoantibodies to ganglionic nicotinic acetylcholine receptors may play a central role
The antibody negative cases of Autoimmune autonomic neuropathy (AAN), which can have identical phenotype and respond to immunotherapy, may be related to antibodies directed at different targets in nerve, including ganglion [15]
Autonomic failure with disabling orthostatic hypotension is the clinical hallmark of pure autonomic failure (PAF) which would be considered more as a syndrome with multiple underlying etiologies than a single disease; this may apply for Postural orthostatic tachycardia syndrome (POTS) characterized by the increase in heart rate on standing, without significant decrease in blood pressure and is a relatively benign disorder that is often selflimiting; this syndrome may be associated with other neuropathic variants

Summary

Background

Autoimmune autonomic ganglionopathy (AAG) is a rare acquired pan-dysautonomia, in which autoantibodies to ganglionic nicotinic acetylcholine receptors (gAChR) may play a central role. In June 2005, this 54 year-old lady was admitted to our neurological unit as she presented for the past few weeks recurrent falls, dizziness, walking impairment, recurrent syncope while standing, feeling of unexplained cold and burning sensation in both feet; more recently she complained from abdominal pain, right-sided cervical and temporomandibular intense neuropathic-like painful sensation, including burning sensation, shooting and paresthesias with intermittent facial and cervical flashing episodes; these symptoms were rapidly increasing to the extent that this patient refrained from standing up from her bed by fear of falling and fainting From her past medical history, she had in 1990 an openheart surgery for tricuspid valve stenosis with uneventful postsurgery follow up since . Since was almost asymptomatic with occasionally some light headedness on standing position with mild and well tolerated orthostatic hypotension, though, she could walk long distances with no assistance and follow up was uneventful; fludrocortisone was resumed intermittently as orthostatic hypotension fluctuated

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Discussion

Conclusion