Harlequin syndrome in a young girl: An opportunity to rethink the terminology.

Harlequin syndrome is a rare disorder of the autonomic nervous system, presenting as unilateral reduced flushing and sweating of the face induced by exercise, stress, or heat. It is caused by a cervical sympathetic deficit located at the preganglionic or postganglionic level on the non-flushing side. We present a case of an 8 year old with harlequin syndrome and review the other dermatological conditions for which the term "harlequin" is part of the nomenclature.

Patient with Cluster Headache and Harlequin Sign - Related or Not?

BACKGROUND: The harlequin sign or syndrome is a rare cranial autonomic condition characterized by unilateral diminished flushing and sweating of the face (and sometimes arm), in response to heat or exercise. It results from autonomic, mainly sympathetic dysfunction. Although the idiopathic form is the most common, underlying structural abnormalities in the head, neck, and thorax need to be excluded. METHODS AND RESULTS: Here, we describe the first case of the combination of primary cluster headache and the harlequin syndrome in a 49-year-old female patient. The patient presented with a first bout of cluster headache with persisting Horner syndrome and new harlequin sign after the bout. Additional neuroimaging did not reveal underlying pathologies. This report provides an overview of cases from the literature and then discusses the association between primary headaches and the harlequin syndrome. Relevant anatomy, diagnostic tools, and therapeutic options are all considered. CONCLUSION: This case reports a rare combination of cluster headache and harlequin sign that warrants further testing to exclude pathology in the brain, neck or mediastinum. It also illustrates the underlying anatomy and physiology of the autonomic nervous system.

Congenital Cases of Concomitant Harlequin and Horner Syndromes.

We report three pediatric cases of concomitant congenital Horner and Harlequin syndromes. This association suggests a lesion at the superior cervical ganglion or just inferior. Often, no underlying lesion is documented.

Harlequin sign due to an upper thoracic paravertebral lesion. A systematic review of the literature.

INTRODUCTION: Harlequin syndrome (HS) is an uncommon condition affecting the sympathetic nervous system, characterized by asymmetrical flushing and sweating impairment, which can affect the face or half of the body. When the dysfunction results from external factors like damage or compression, it's referred to as Harlequin Sign. Our objective was to document an exceedingly rare presentation of Harlequin Sign caused by a T3-T4 paravertebral mass and conduct the first systematic literature review on this subject. METHODS: We conducted a systematic review of English-language studies using PubMed, Scopus, and Embase databases. We excluded abstracts, posters, congenital and idiopathic Harlequin Syndrome cases, as well as iatrogenic and secondary Harlequin Sign cases related to pathologies other than upper thoracic lesions. RESULTS: We employed the PRISMA protocol and reviewed 1,538 papers, identifying 8 single case reports describing the Harlequin sign resulting from upper thoracic paravertebral lesions. The mean age of the patients was 41.25 years, with 6 (75 %) being female. The average time from onset to presentation was 8 months, and all patients (100 %) exhibited hemifacial flushing, while 4 (50 %) also had hemifacial anhidrosis. Stress or exercise exacerbated these symptoms in 50 % of cases. Additionally, 3 patients (37.5 %) presented with associated Horner Syndrome. The most commonly used diagnostic tool was a CT scan (50 %), revealing an average tumor diameter of 3.95 cm, with 50 % of cases located at T2-T3. Diagnosis indicated 57 % of cases as schwannomas and 29 % as lung adenocarcinoma (Superior Sulcus). Unfortunately, surgical treatment resolved symptoms in only 25 % of patients. CONCLUSIONS: Hemifacial or hemibody autonomic symptoms should raise concern for paraspinal lesions in the thoracic spine. In addition to the first comprehensive review on this topic, we present a rare case of a T3/4 paraspinal schwannoma causing Harlequin Syndrome successfully managed with neurosurgical intervention.

[Dysautonomic syndrome of the face with Harlequin sign and syndrome: Three new cases and a review of the literature]. / Syndromes dysautonomiques du visage avec signe et syndrome d'Harlequin : étude de trois cas et revue de la littérature.

INTRODUCTION: Harlequin phenomenon is characterized by a strictly unilateral erythrosis of the face with flushing and hyperhydrosis, and controlaterally a pale anhydrotic aspect. This syndrome can occur alone or associated to other dysautonomic phenomena such as Horner syndrome, Adie syndrome or Ross syndrome. PATIENTS AND METHODS: We report three cases: two patients presented a Harlequin sign, associated with Horner syndrome for one and Ross syndrome for the second. The etiologic investigation was normal, allowing recognizing the idiopathic nature of the disorder. For the third patient, Harlequin syndrome was observed in a neoplastic context due to breast cancer, metastatic dissemination, and bone metastases involving the right side of the T2 body. DISCUSSION: We reviewed the literature: 108 cases have been described. This syndrome occurred alone in 48 patients and was associated with other dysautonomic syndromes such as Horner syndrome in 38 patients, Holmes Adie syndrome in six, and Ross syndrome in six; both Ross and Holmes Adie syndrome were associated five cases and associations were not reported in five patients. The pathophysiological mechanisms of this autonomic cranial neuropathy, the possible etiologies, and therapeutic management were discussed. CONCLUSION: Harlequin phenomenon with flushing and unilateral hyperhydrosis is rare, occurring alone or in combination with other autonomic syndromes of the face. Idiopathic in two-thirds of cases, Harlequin phenomenon does not require specific treatment; sympathectomy may be discussed in the severe cases with a significant social impact.

Congenital Harlequin syndrome as an isolated phenomenon: A case report and review of the literature.

UNLABELLED: Harlequin syndrome (HS) is a rare autonomic disorder due to a hemifacial cutaneous sympathetic denervation. It is characterized by unilateral diminished sweating and flushing of the face even though after heat or prolonged exercise. It is typically acquired. Congenital cases only represent a 6% of all individuals with HS. All congenital HS cases reported so far showed a concomitant Horner syndrome, probably due to a stellate ganglion involvement. HS represents an uncommon autonomic disorder due to a hemifacial cutaneous sympathetic denervation. It is clinically characterized by a dramatic alteration in facial appearance: ipsilateral denervated pale and dry half from the other intact red and moist half. CONCLUSION: We present, to the best of our knowledge, the first case of a patient with a congenital HS as an isolated phenomenon.