Painful Tic Convulsif Syndrome
Painful Tic Convulsif Syndrome (PTCS) is a rare syndrome characterized by the coexistence of trigeminal neuralgia (TN) and ipsilateral hemifacial spasm (HS). While PTCS has a specific characterization, it has a variety of potential etiologies. It is a debilitating disease that severely impacts patients' quality of life.
“Painful tic convulsif” was coined by Cushing in 1920, but the relation of TN and HS was identified by Campbell and Keedy in 1947. Until recently, PTCS has only been reported in case reports or small case-series, making the syndrome thought to be very uncommon. In 2020, a retrospective study of 40 cases was published by Liu et al. Furthermore, in 2021, the first individual patient data meta-analysis of PTCS (192 cases) was published by Yin et al. In this study, Yin et al. ascertained previously unidentified characteristics of PTCS (e.g., epidemiological features, relative frequency of etiologies, and risk factors).
Data from Yin et al. suggested that PTCS is more likely to occur in women aged 40 to 60 and more commonly seen on the left side. Liu et al. discovered that PTCS more often initiated as HS rather than TN. Moreover, increased age is correlated with higher rates of recurrence.
Risk Factors for HS include arteriosclerosis, family history, facial nerve injury (e.g., Bell’s palsy, compression, trauma, etc.), and facial trauma. Risk Factors for TN include arteriosclerosis, hypertension, trigeminal nerve injury (e.g., compression, trauma, infection, etc.), family history, age, race, and stress; TN is rarely congenital.
Etiology is variable for PTCS. Common etiologies of HS and TN include vascular compression (85%), tumors (8%), and vascular diseases (5%-6%). For single vascular compression, common vessels include the vertebral artery, basilar artery, anterior inferior cerebellar artery (AICA), and posterior inferior cerebellar artery (PICA). Other space-occupying lesions include meningiomas, Schwanomas, bony abnormalities of the skull, and arachnoid cysts. Examples of vascular disease include aneurysms and venous malformations.
Ocular manifestations may occur in PTCS, but are not required for diagnosis. Moreover, the exact ocular manifestations are dependent on underlying etiology and pathophysiology. This is because trigeminal and facial nerve dysfunction can manifest as distinct ophthalmic and non-ophthalmic features in addition to TN and HS, respectively.
In trigeminal nerve dysfunction, involvement of the V1 branch can result in pain around the eye as well as corneal hypoesthesia or anesthesia. Corneal anesthesia can result in absence of the corneal reflex, and this may contribute to dry eye syndrome and corneal lesions.
In facial nerve palsy, ophthalmic clinical features mainly include dry eye syndrome, corneal lesions, and eyelid malposition. Other manifestations include lagophthalmos, epiphora, eyelid swelling, chemosis, and conjunctival injection.
The pathophysiology of PTCS is variable and dependent on underlying etiology. Either a single unifying pathology or multiple independent pathologies may cause PTCS provided that trigeminal neuralgia and ipsilateral hemifacial spasm are manifested simultaneously. Additional symptoms from trigeminal and facial nerve involvement are coincidental and occur on a case-by-case basis. Moreover, the pathogenesis of PTCS can be seen more as a coexistence of the respective pathophysiologies of TN and HS rather than an independent pathology.
In TN, the trigeminal nerve transitions from peripheral to central myelination at its entrance into the pons. This transition area is vulnerable to demyelination (e.g., compression, mechanical trauma, multiple sclerosis). Demyelination of axons can result in the inability to pump out sodium ions, causing the axons to become hyperexcitable. This hyperexcitability is characterized by ephaptic transmission to neighboring axons and ectopic generation of impulses with high-frequency discharges. Moreover, the nerve fibers most at risk of demyelination are the A-β fibers. It has been proposed that high-frequency discharges resulting from A-β fiber demyelination are redirected by brainstem neurons to be perceived as paroxysmal pain.
Multiple hypotheses have been posed to explain the pathophysiology of HS. The root-exit zone of the facial nerve is ensheathed by only an arachnoidal membrane and is without an epineurium. The root-exit zone is also an area of transition from central to peripheral myelination. Lastly, there is no connective tissue septa that traverse the individual fascicles of the root-exit zone. These features in combination leave the root-exit zone particularly vulnerable to compression. The “Peripheral” Hypothesis states that ectopic and ephaptic excitations occur in the root-exit zone due to the compressive effects of either vascular compression or space-occupying lesions (e.g., meningiomas, Schwanomas, arteriovenous malformation, aneurysms, bony abnormalities of the skull, arachnoid cysts). The “Central" Hypothesis states that injury to the facial nerve induces hyperexcitability of the facial nerve nucleus in the brainstem. The inappropriate excitation in both hypotheses then elicits involuntary muscle activation and subsequent movement, resulting in HS.
An example of a unifying pathology is the PICA becoming dilated in a way that it somehow simultaneously compresses both the trigeminal nerve and the facial nerve. An example of separate pathologies is dilation of the AICA compressing the trigeminal nerve and inadvertent trauma to the facial nerve from a neurosurgical procedure. However, both examples would be exceedingly rare.
Diagnosis of TN and HS is mostly clinical, and a diagnosis of PTCS is likely if a patient fulfills the following criteria:
For TN, there are three main criteria:
1) Pain is restricted to the territory of one or more divisions of the trigeminal nerve. 2) Pain is paroxysmal and is sudden, intense, and short (< 2 minutes typically). 3) Pain is triggered by usually innocuous stimuli, or even no stimuli, to the face or intraoral territory of the trigeminal nerve.
For HS, criteria include
For a complete diagnosis of PTCS: 1) Trigeminal neuralgia and hemifacial spasm are simultaneously manifested on the ipsilateral side.
Electromyography (EMG) and other electrodiagnostic tests can be used to help diagnose TN, HS, and thereby PTCS. For example, in EMG, non-invasive neuromodulation of muscles innervated by the trigeminal or facial nerve may elicit irregular or enhanced excitability patterns of activity. This may help illuminate a trigeminal neuropathy as well as a facial neuropathy, aiding in the diagnosis of PTCS.
Neuroimaging can be helpful in identifying the etiology of a PTCS diagnosis. Computed tomography (CT) with contrast and magnetic resonance imaging (MRI) with and without contrast of the head may show compressive tumors, cysts, and vessels. Computed tomography angiography (CTA) and magnetic resonance angiography (MRA) of the head are helpful in evaluating for tortuous and ectatic vessels.
While TN and HS may have relatively straightforward diagnoses, they are oftentimes misdiagnosed. Therefore, PTCS may be under-diagnosed.
TN has been misdiagnosed as dental issues (e.g., toothache, periodontal abscess, dental caries, dental granulomas, etc.), sinusitis, migraine, cluster headache, tension headache, etc.
Continued education and awareness are necessary for more accurate diagnoses of TN and HS as well as PTCS potentially.
PTCS due to vascular compression is commonly treated with microvascular decompression (MVD) surgery. In MVD, the offending vessel is moved away from the compressed nerve, and implant material (e.g., Teflon pledget or Ivalon sponge) is inserted between the vessel and nerve to reduce recurrence risk.
Other treatments may be performed, especially for different causes of PTCS (e.g., resection for tumors and cysts, botulinum toxin, radiofrequency ablation, thermocoagulation, and Gamma Knife radiosurgery).
Prognosis of PTCS is dependent on underlying etiology. For example, PTCS due to vascular compression tends to have a good prognosis when treated by MVD (>80% cure rate). However, the predictive value of a successful MVD operation is dependent on the specific offending vessel. Involvement of the AICA or PICA has a higher success rate than involvement of other vessels (e.g., vertebrobasilar artery, superior cerebellar artery, or veins). Older age is also associated with higher recurrence rates.
There is less data on PTCS due to uncommon causes (e.g., tumors, cysts, vascular disease, or trauma). There have been anecdotal reports of partial to complete relief from PTCS after resection of tumors; however, further investigation is necessary to evaluate the efficacy of the treatments (e.g., tumor resection, Gamma Knife Radiosurgery, or thermocoagulation) for less common causes of PTCS.
PTCS is a rare syndrome characterized by the coexistence of TN and ipsilateral HS. PTCS may present with other features of trigeminal or facial nerve involvement, but these are dependent on the underlying etiology and pathophysiology. Although ocular manifestations are not required for diagnosis of PTCS, ophthalmologists can play a crucial role in diagnosis if a patient presents with cornea or eyelid involvement. PTCS is typically treated with MVD when the cause is vascular compression, but multiple treatment options are possible depending on etiology.
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