Harlequin Syndrome: Symptoms, Causes, Treatment

What are the symptoms of Harlequin syndrome?

Harlequin syndrome, also known as Harlequin sign or Horner syndrome with pseudo-Anhidrosis, typically presents with the following symptoms:

1. Asymmetric Sweating: One side of the face or body perspires excessively (hyperhidrosis), while the other side does not sweat normally or may exhibit decreased sweating (anhidrosis).
2. Flushing or Blushing: The affected side of the face or body may experience flushing or reddening due to dilated blood vessels.
3. Pupil Constriction: Miosis, or constriction of the pupil, on the affected side of the face.
4. Drooping Eyelid: Ptosis, or drooping of the upper eyelid on the affected side, which can be mild to moderate.
5. Slight Elevation of the Lower Eyelid: Sometimes, there may be a subtle elevation of the lower eyelid (lower lid retraction) on the affected side.

These symptoms arise due to dysfunction or damage to the sympathetic nervous system, which controls involuntary bodily functions such as sweating, blood vessel dilation, and pupil size. Harlequin syndrome is typically benign but can result from various causes, including injury, surgery, or neurological conditions affecting sympathetic nerves.

What are the causes of Harlequin syndrome?

Harlequin syndrome, characterized by asymmetrical sweating and other symptoms on one side of the face or body, has several potential causes. These include:

1. Idiopathic: In many cases, the exact cause of Harlequin syndrome remains unknown (idiopathic). It may arise spontaneously without an identifiable underlying condition.
2. Trauma or Injury: Damage to the sympathetic nerves, which control sweating and blood vessel dilation, can occur due to trauma or injury. This might include surgical procedures near the neck, chest, or spine, where sympathetic nerves are located.
3. Surgery: Certain surgical procedures, especially those involving the neck, chest, or upper spine, can inadvertently damage sympathetic nerves, leading to Harlequin syndrome as a complication.
4. Neurological Disorders: Conditions affecting the nervous system, such as stroke, multiple sclerosis, tumors, or spinal cord lesions, may disrupt sympathetic nerve function and lead to symptoms of Harlequin syndrome.
5. Congenital Anomalies: Rarely, congenital abnormalities affecting sympathetic nerve development or function may manifest as Harlequin syndrome.
6. Infections or Inflammatory Conditions: Infections or inflammatory processes affecting the sympathetic nerves or their pathways can potentially cause symptoms similar to Harlequin syndrome.
7. Autoimmune Disorders: Certain autoimmune conditions, although rare, can involve the autonomic nervous system and lead to dysregulation of sympathetic nerve function.

Diagnosis of Harlequin syndrome involves a thorough clinical evaluation, including history taking, physical examination, and sometimes imaging studies or specialized tests to assess sympathetic nerve function. Treatment depends on the underlying cause, if identified, and may involve managing any underlying conditions or providing symptomatic relief if the syndrome causes significant discomfort or functional impairment.

How is the diagnosis of Harlequin syndrome made?

Harlequin syndrome, also known as Harlequin pattern blanching, is a rare condition characterized by an asymmetrical distribution of the cutaneous manifestations of Horner’s syndrome, which is a neurological disorder that affects the sympathetic nervous system. The diagnosis of Harlequin syndrome is typically made through a combination of clinical evaluation, physical examination, and diagnostic tests.

Here are the steps involved in making a diagnosis of Harlequin syndrome:

1. Clinical evaluation: A thorough medical history is taken to identify any underlying conditions that may be associated with Harlequin syndrome, such as neurosurgical procedures, head and neck trauma, or tumors.
2. Physical examination: A physical examination is performed to assess the patient’s cranial nerves, particularly the ophthalmic division of the trigeminal nerve (V1) and the sympathetic trunk. The following signs may be observed:
   • Asymmetrical pupillary dilatation (anisocoria)
   • Ptosis (drooping) of one eyelid
   • Enophthalmos (retraction of the eyeball) or exophthalmos (protrusion of the eyeball)
   • Decreased sweating on one side of the face
   • Decreased skin temperature on one side of the face
3. Diagnostic tests: The following tests may be ordered to confirm the diagnosis:
   • Pupillary testing: Pupillary response to light and accommodation reflex are assessed to rule out other causes of anisocoria.
   • Imaging studies: Computed tomography (CT) or magnetic resonance imaging (MRI) scans may be performed to rule out structural lesions in the brain or spinal cord that may be causing the symptoms.
   • Stellate ganglion block: A local anesthetic is injected into the stellate ganglion (a ganglion of nerves in the neck) to assess for Horner’s syndrome and confirm the diagnosis.
   • Sweat test: A sweat test may be performed to assess for hypohidrosis (reduced sweating) on one side of the face.
4. Differential diagnosis: Other conditions that can cause similar symptoms, such as Horner’s syndrome, parotid gland disorders, or peripheral nerve damage, should be ruled out through a comprehensive evaluation.
5. Neurological consultation: A neurologist or neurosurgeon may be consulted to provide a more detailed assessment of the patient’s neurological symptoms and to develop a treatment plan.

In summary, the diagnosis of Harlequin syndrome involves a combination of clinical evaluation, physical examination, diagnostic tests, and differential diagnosis to rule out other conditions that may cause similar symptoms.

What is the treatment for Harlequin syndrome?

Harlequin syndrome, also known as Harlequin sign or Harlequin color change, is a rare condition characterized by sudden unilateral facial flushing and sweating in response to exertion, heat, or emotional stimuli. Treatment options for Harlequin syndrome are limited and primarily focused on managing symptoms rather than curing the condition. Here are some approaches that may be considered:

1. Avoidance of Triggers: Identifying and avoiding triggers such as heat, exercise, or emotional stress can help reduce the frequency and intensity of episodes.
2. Cooling Measures: Using cooling techniques such as applying cool compresses or sitting in a cool environment during episodes may provide relief.
3. Pharmacological Therapy: In some cases, medications that affect blood vessel dilation and sweating, such as anticholinergics or beta-blockers, may be prescribed to help manage symptoms.
4. Biofeedback Therapy: Biofeedback techniques can sometimes be used to help individuals learn to control their body’s responses to triggers.
5. Supportive Measures: Counseling or support groups may help individuals cope with the psychological and social impacts of living with Harlequin syndrome.

Since Harlequin syndrome is rare and its exact cause is not fully understood, treatment effectiveness can vary among individuals. Consulting with a healthcare provider, particularly a neurologist or dermatologist specializing in autonomic disorders, can provide personalized guidance and treatment options tailored to the individual’s symptoms and needs.

How long is the life expectancy of Harlequin syndrome?

Harlequin syndrome, also known as progressive external ophthalmoplegia with brainstem encephalopathy (PEO-BE), is a rare and complex condition characterized by degeneration of the brainstem and peripheral nerves.

The life expectancy of individuals with Harlequin syndrome can vary significantly depending on the severity of the condition, the extent of the brainstem involvement, and the presence of other associated conditions.

In general, patients with Harlequin syndrome typically have a poor prognosis, with many individuals experiencing significant disability and a reduced life expectancy. The median life expectancy is around 10-20 years after the onset of symptoms, although some individuals may live for 30-40 years or more with appropriate management.

Factors that can influence life expectancy include:

1. Severity of brainstem involvement: Patients with more extensive brainstem damage tend to have a shorter life expectancy.
2. Presence of other neurological conditions: Patients with additional neurological conditions, such as Parkinson’s disease, amyotrophic lateral sclerosis (ALS), or progressive supranuclear palsy (PSP), may have a shorter life expectancy.
3. Respiratory and cardiac complications: Patients with respiratory or cardiac complications, such as sleep apnea or arrhythmias, may have a shorter life expectancy.
4. Cognitive decline: Cognitive decline can significantly impact quality of life and overall prognosis.

It’s essential to note that each individual’s experience with Harlequin syndrome is unique, and life expectancy can vary widely. Regular monitoring and management by a multidisciplinary team of healthcare professionals can help optimize outcomes and improve quality of life for individuals with this condition.