Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Oct;268(10):3852-3860.
doi: 10.1007/s00415-021-10531-8. Epub 2021 Apr 3.

Clinical presentation and autonomic profile in Ross syndrome

Guillaume Lamotte  1 , Paola Sandroni  2 , Jeremy K Cutsforth-Gregory  2 , Sarah E Berini  2 , Eduardo E Benarroch  2 , Kamal Shouman  2 , Michelle L Mauermann  2 , Jennifer Anderson  2 , Phillip A Low  2 , Wolfgang Singer  2 , Elizabeth A Coon  2
Affiliations

Clinical presentation and autonomic profile in Ross syndrome

Guillaume Lamotte et al. J Neurol. 2021 Oct.

Abstract

Background: Ross syndrome is a rare disorder characterized by tonic pupils, hyporeflexia, and segmental anhidrosis. We sought to characterize the clinical presentation, associated autoimmune disorders, and autonomic profile in patients with Ross syndrome to further elucidate its pathophysiology.

Methods: We performed a retrospective chart review of all patients who underwent a thermoregulatory sweat test (TST) between 1998 and 2020 and had confirmation of the diagnosis of Ross syndrome by an autonomic disorders specialist. Standardized autonomic reflex testing was reviewed when available.

Results: Twenty-six patients with Ross syndrome were identified. The most common initial reported manifestation was an abnormal segmental sweating response in 16 patients (described as hyperhidrosis in 12 patients and anhidrosis in 4 patients) while a tonic pupil was the initial manifestation in 10 patients. Other commonly reported symptoms included fatigue, chronic cough, and increased urinary frequency. An associated autoimmune disorder was identified in one patient. Positive autoantibodies were found in a minority of patients often with unclear clinical significance. Distributions of anhidrosis encountered were segmental (n = 15), widespread (n = 7), and global (n = 4). Well-circumscribed small areas of preserved sweating within areas of anhidrosis were observed in the majority of patients (88.5%). Anhidrosis progressed slowly over time and sudomotor dysfunction was predominantly (post)ganglionic. Cardiovagal and adrenergic functions were preserved in most patients.

Conclusions: The pattern of autonomic dysfunction in Ross syndrome is suggestive of a limited autonomic ganglioneuropathy. Sudomotor impairment is prominent and should be the focus of symptomatic management; however, clinicians should be aware of symptoms beyond the classic triad.

Keywords: Anhidrosis; Autonomic testing; Hyperhidrosis; Ross syndrome; Thermoregulatory sweat test; Tonic pupils.

PubMed Disclaimer

Conflict of interest statement

Conflicts of interest None of the authors has a conflict of interest.

Figures

Fig. 1
Fig. 1
Flowchart of the search results and identification of patients. AAG autoimmune autonomic ganglionopathy, PAF pure autonomic failure, TST thermoregulatory sweat test
Fig. 2
Fig. 2
The different distributions of sudomotor involvement on thermoregulatory sweat test in Ross syndrome. TST demonstrated segmental anhidrosis in 15 patients; there was distal involvement (foot and/or hand) in 12/15 patients. TST demonstrated widespread anhidrosis in 7 patients (areas of preserved sweat were well demarcated/segmental in 3 patients whereas they were not following anatomical borders in 4 patients). TST demonstrated global anhidrosis in 4 patients with well-demarcated small islands of preserved sweat)
Fig. 3
Fig. 3
Long-term follow-up of sudomotor function using the thermoregulatory sweat test in 2 patients with Ross syndrome. Two patients underwent three thermoregulatory sweat tests with 6.9 and 14.9 years of follow-up respectively. Slow progression of anhidrosis was evident in both patients
See this image and copyright information in PMC

References

    1. Agmon-Levin N, Damoiseaux J, Kallenberg C, Sack U, Witte T, Herold M, Bossuyt X, Musset L, Cervera R, Plaza-Lopez A, Dias C, Sousa MJ, Radice A, Eriksson C, Hultgren O, Viander M, Khamashta M, Regenass S, Andrade LE, Wiik A, Tincani A, Rönnelid J, Bloch DB, Fritzler MJ, Chan EK, Garcia-De La Torre I, Konstantinov KN, Lahita R, Wilson M, Vainio O, Fabien N, Sinico RA, Meroni P, Shoenfeld Y (2014) International recommendations for the assessment of autoantibodies to cellular antigens referred to as anti-nuclear antibodies. Ann Rheum Dis 73:17–23 - PubMed
    1. Baran A, Balbaba M, Demir CF, Ozdemir HH (2014) A case of Ross syndrome presented with Horner and chronic cough. J Neurosci Rural Pract 5:394–397 - PMC - PubMed
    1. Beier C, Ernemann U, Gerloff C (2004) Moving along with Ross syndrome—a patient with a 50 years history. J Neurol 251:1402–1403 - PubMed
    1. Bergmann I, Dauphin M, Naumann M, Flachenecker P, Müllges W, Koltzenburg M, Sommer C (1998) Selective degeneration of sudomotor fibers in Ross syndrome and successful treatment of compensatory hyperhidrosis with botulinum toxin. Muscle Nerve 21:1790–1793 - PubMed
    1. Cheshire WP Jr (2016) Thermoregulatory disorders and illness related to heat and cold stress. Auton Neurosci Basic Clin 196:91–104 - PubMed

MeSH terms

LinkOut - more resources