Recognition of a patient with neck autonomic dysfunction: findings from a rare case report of harlequin syndrome in direct access physiotherapy

ABSTRACT

Background

Harlequin syndrome is a rare autonomic condition consisting of unilateral facial flushing and sweating induced by heat, emotion or physical activity. The affected side presents anhidrosis and midline facial pallor due to denervation of the sympathetic fibers.

Case Description

This case describes a patient who reported right-side redness of the face associated with hyperhidrosis during physical activity. She had two previous major motor vehicle accidents. The patient demonstrated difficulties in the visual accommodation of the left eye, but cranial nerve assessment was unremarkable; the patient was then referred to an ophthalmologist, who excluded any autonomic dysfunction as the primary cause of convergence and visual acuity.

Outcomes

A left-sided sympathetic dysfunction with Harlequin sign diagnosis was made followed by a progressive compensatory adaptation of the right face. The patient was educated and reassured about the benign nature of her problem.

Discussion

Knowledge of the autonomic nervous system is still limited in clinical practice. Although challenging, physiotherapists should develop the knowledge and ability needed to perform appropriate assessment of autonomic dysfunctions.

Conclusion

A dispositional reasoning model should be considered in differential diagnosis.

KEYWORDS:

• Autonomic nervous system diseases
• autonomic denervation
• rehabilitation
• guideline adherence
• differential diagnosis
• physiotherapy: direct access

Disclosure statement

No potential conflict of interest was reported by the author(s).

Author contributions

F.M. (Firas Mourad) conceived and designed the study. A.G., G.M., and F.M. (Firas Mourad) completed all examinations and decided about final diagnosis. F.M. (Firas Mourad) and I.S. wrote the first draft. F.M. (Filippo Maselli), R.K. (Roger Kerry), A.T., R.K. (Rik Kranenburg), N. H., and J.D. reviewed the article critically for important intellectual content. All authors approved the final approval of the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. F.M. (Firas Mourad) is the guarantor.

Consent for publication

Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.

Institutional review board statement

The study was conducted in accordance with the Declaration of Helsinki. According to local legislation, ethics approval is not required for case reports (Regolamento del ‘Comitato Etico nazionale per le sperimentazioni degli enti pubblici di ricerca (EPR) e altri enti pubblici a carattere nazionale’, presso l’Istituto Superiore di Sanita, Art. 2 – Funzioni, 11 aprile 2022).

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.

Notes on contributors

Firas Mourad

Firas Mourad, PT, PhD is Ass. Prof. at LUNEX University. He also works as a physiotherapist in a private practice. His main clinical research interests have been in differential diagnosis of head and neck, neck pain and associated disorders, and spinal manipulation. He has been a regular speaker at numerous courses and conferences worldwide. He is the author of over 60 peer-reviewed articles (primarily differential diagnosis of head and neck including cervical vascular pathology/spinal manipulation/neck pain).

Irene Scotto

Irene Scotto, PT is a lecturer in the IFOMPT Master program at the University of Rome La Sapienza. She works as a physiotherapist in a private practice.

James Dunning

James Dunning, PhD, DPT, FAAOMPT is the Director of the American Academy of Manipulative Therapy post-graduate Fellowship in Orthopaedic Manual Physical Therapy. He works as a physical therapist at Montgomery Osteopractic Physical Therapy & Acupuncture Clinic. His main research has been multicenter clinical trials on the use of spinal manipulation and/or dry needling in cervicogenic headache, temporomandibular disorder, lateral elbow tendinopathy, knee osteoarthritis, plantar fasciitis, and subacromial pain syndrome. He is the author of over 40 peer-reviewed articles.

Andrea Giudice

Andrea Giudice, PT, MSc he is lecturer in the IFOMPT at the Universities of Rome La Sapienza and Tor Vergata. He also works in his own private practice (Fisiopower Clinic in Brescia, Italy). His primary research interests lies in the areas of differential diagnosis and the pathophysiology of chronic and neuropathic pain.

Giorgio Maritati

Giorgio Maritati, PT, BSP is senior lecturer in the IFOMPT at the Universities of Rome La Sapienza and Tor Vergata. He also works in his own private practice (Fisiopower Clinic in Brescia, Italy). His primary research interests lies in the areas of differential diagnosis within physical therapy, assessment and management of musculoskeletal conditions, return to sport and fatigue.

Filippo Maselli

Filippo Maselli,PT, PhD is a Senior Lecturer in various IFOMPT masters in Italy (University of Rome La Sapienza, University of Genova, and University of Molise). He is the former President of the Italian Musculoskeletal Physiotherapy Group (2016 - 2022). He currently, joins the University of Rome “La Sapienza” as Program Coordinator of the Master in Musculoskeletal and Rheumatological Physiotherapy. His main clinical research are interest have been in differential diagnosis of low back pain and spinal manipulation. Moreover, he is the author of over 60 peer-reviewed articles.

Rik Kranenburg

Rik Kranenburg, PhD is a senior lecturer at the Hanze University of applied sciences in Groningen, The Netherlands. He also works in a private practice. His main clinical research are interest have been in differential diagnosis of head and neck, neck pain and associated disorders, and spinal manipulation.

Alan Taylor

Alan Taylor, MSc MCSP is an Assistant Professor in the Faculty of Medicine & Health Sciences at the University of Nottingham, UK. His main clinical and research interests are vascular flow limitations and clinical reasoning. He also works as an ‘expert witness’ in the field of medical negligence related to vascular issues.

Roger Kerry

Roger Kerry is Associate Professor in the Faculty of Medicine and Health Sciences at the University of Nottingham, UK. He is a qualified Chartered Physiotherapist, and an honorary Fellow of the UK’s Musculoskeletal Association of Chartered Physiotherapists. His main clinical research interests have been in adverse events and physiotherapy interventions of the head and neck, particularly on the causal nature of the interventions. He has been a regular key note speaker at numerous courses and conferences worldwide. He published numerous articles about cervical arterial dysfunction and is one of the authors of the recent published International IFOMPT Cervical Framework (2020).

Nathan Hutting

Dr. Nathan Hutting is an associate professor at the HAN University of Applied Sciences in the Netherlands. He also works as a physiotherapist in a private practice. His current research topics include musculoskeletal conditions, self-management, patient-centered care, occupational health and vascular conditions. Nathan has published over 50 peer-reviewed articles. He has made numerous international congress presentations and has chaired focused symposia at the World Physiotherapy congresses in 2017, 2019, 2021 and 2023.