Late Diagnosis of Narcolepsy With Cataplexy: A Novel Case of Cataplectic Facies Presenting in an Elderly Woman

Abstract

Cataplectic facies is an unusual feature described in children with narcolepsy and cataplexy. The typical manifestations of cataplectic facies consist of repetitive mouth opening, tongue protrusion, and ptosis. An interesting observation is that the usual emotional triggers associated with cataplexy such as laughter and joking are not always present, thus hampering diagnosis of the underlying syndrome. Cataplectic facies is thought to be a phenomenon observed in the early stages of narcolepsy type 1 and is thought to disappear by the time the patient reaches puberty. We present a unique case of an elderly woman with narcolepsy type 1 demonstrating cataplectic facies. The novel circumstances of this case highlight that facial cataplexy can present later in life, in contrast with previous descriptions that report resolution of cataplectic facies before puberty. Wider recognition of these features throughout the life course may aid in accurate diagnosis and thereby ensure swift access to appropriate treatment.

Citation:

Khalsa S, Qureshi K, Bagshaw AP, Rather A. Late diagnosis of narcolepsy with cataplexy: a novel case of cataplectic facies presenting in an elderly woman. J Clin Sleep Med. 2019;15(11):1687–1690.

INTRODUCTION

Cataplectic facies are increasingly recognized as an important indicator of underlying narcolepsy type 1 in children.^1,2 They include orofacial automatism, ptosis, tongue protrusion, and asymmetrical facial twitching. This has since been described as a feature commonly seen in the childhood disease, and in this group it may be mistaken for tics and focal seizures.² The clinical course and severity of narcolepsy in children is comparable to that in adults.³

Cataplectic facies is a distinguishing feature of narcolepsy type 1 in early childhood^1,2,4 as it is thought to generally resolve prior to puberty.^2,5 Here we present a case of an older adult with diagnostic features of narcolepsy type 1, including a long history of hypersomnolence and highly fragmented sleep and typical cataplectic facies. The patient’s initial diagnosis was complex partial seizures and subsequently nonepileptic attack disorder before being referred to our unit.

To our knowledge this is a unique case of cataplexy with facial manifestations in an elderly patient, which was initially misdiagnosed for years as epilepsy and then nonepileptic attack disorder. The correct diagnosis guided subsequent treatment in this patient, leading to a marked improvement in her life-limiting symptoms. The case highlights the importance of recognizing signs of cataplectic facies in later life, in order to ensure accurate diagnosis and swift access to treatment.

REPORT OF CASE

LD is a 77-year-old right-handed Caucasian woman who lives with her husband. She is a retired carpet machinist who worked in a local factory all her working life from age 15 years to 60 years.

She presented with a long history of poor, unrefreshing fragmented sleep, daytime hypersomnolence, and the onset of paroxysmal episodes described as “funny turns,” all of which began 32 years ago (age of onset around mid-30s). The semiology of these episodes consisted of sudden collapse or slumping with no prior warning or subjective aura. She described the sensation of her legs “going to jelly” and having to hold onto objects to avoid falling. An important diagnostic observation is her retained consciousness and full awareness of her surroundings during events. There is no associated amnesia; however, she is unable to speak during the episodes. These events are brief, lasting between a few seconds to 2 minutes. The onset and offset are abrupt, with a quick recovery and no associated cognitive deficits. Prior to treatment, the frequency of these attacks varied between three to six attacks per day.

In the medical history, she has chronic ailments including essential hypertension, ischemic heart disease, hypercholesterolemia, and hypothyroidism. She had an acute myocardial infarction in 2001. She also underwent total abdominal hysterectomy in 1985. She is an exsmoker and gave up smoking more than 5 years ago. She does not drink alcohol. There is no history of excessive tea or coffee intake.

Collateral history from LD’s husband described her going limp and slumping down to the ground. An important observation is that the attacks typically begin with unilateral facial twitching (usually on the right) as well as tongue protrusion (a phenomena commonly observed in cataplectic facies in children.^1,3 During the attack her husband stated her head and jaw may drop and her eyes close, at which point she tends to hold on to something. If the attack progresses, she will then slump to the floor. The attacks are triggered by tiredness or sudden loud noises (surprise). These tend to occur mostly when she is startled by a sound of a doorbell or the phone ringing. The attacks can also be triggered by laughing and sometimes appear to be spontaneous. There are no other clear emotional triggers such as anger or stress and no hypnagogic hallucinations, but she reported having very occasional episodes of sleep paralysis.

In hindsight, it appears that her tongue protrusion and lateralized facial twitching were mistaken for focal epilepsy when she initially presented to neurologists more than 20 years ago. She had been treated for presumed epilepsy since 1998, and was prescribed several different antiepileptic medications (lamotrigine, carbamazepine, valproate, levetiracetam, topiramate, ethosuximide), to no effect. She stopped taking antiepileptic agents in 2013. Interestingly, she had experienced attacks in the clinic settings that were witnessed by general physicians and other hospital doctors.

She was subsequently referred to the tertiary neurology center and underwent ambulatory electroencephalography (EEG). She was reviewed by another neurologist at this point and her diagnosis was revised to nonepileptic attack disorder in 2017. She was then referred to our center for management of “nonepileptic attacks.” However, the clinical history raised strong suspicions of narcolepsy type 1. She was booked for overnight polysomnography (PSG) with video and Multiple Sleep Latency Testing (MSLT) to confirm the diagnosis. Her sleep was staged according to the American Academy of Sleep medicine guidelines.⁶

In the clinic, the patient’s Epworth Sleepiness Scale score⁷ was 11/24, and Insomnia Severity Index⁸ was 20/28. Her routine blood work included HLA typing. Notably, she was positive for the HLA-DBQ1*06:02 allele.⁹ Cerebrospinal fluid hypocretin levels were not measured as we did not think it was necessary to put the elderly patient through the risk and discomfort of a lumbar puncture¹⁰ as the aforementioned tests and clinical history were adequate in order to establish a diagnosis of narcolepsy type 1.¹¹

Investigations

Previously, routine outpatient EEG had been performed several times and all results were reported as normal. She underwent ambulatory 72-hour EEG in 2015, during which several of her habitual events were captured with no abnormal EEG correlates. Also, 24-hour electrocardiogram was reported as normal and there was no postural drop in blood pressure during her attacks. Her brain magnetic resonance imaging scan (2014) showed moderate small vessel disease with a small amount of generalized brain atrophy but no focal pathology.

Prior to the overnight PSG, LD underwent 7 days of actigraphy (mean sleep latency 7 minutes, mean actual sleep time 6 hours 9 minutes, mean sleep efficiency 76.01%, mean fragmentation index 54.46). Subsequently, she underwent overnight inpatient PSG (Table 1) with video and MSLT.

Table 1.

Overnight polysomnography sleep study statistics.

The daytime PSG record demonstrated brief daytime sleep on day 1 with some sleep-onset rapid eye movement sleep (SOREM) noted. On day 2, LD completed MSLT, which demonstrated short sleep latencies and SOREM (Figure 1). During her admission, the patient had three typical daytime episodes of right facial twitching and tongue protrusion, slumping to one side (hypotonia), and drooping of the eyelids. These episodes demonstrated clear atonia on the electromyography electrodes. One of these episodes was associated with laughing where the patient also went weak at the knees and another was in response to surprise auditory stimuli (door slamming, Video 1 in the supplemental material). There were no paroxysmal EEG changes associated with these events.

Figure 1. Multiple sleep latency testing hypnogram.

The blue line signifies awake and the red line sleep-onset rapid eye movement. The numbers and letters on the y-axis (U = unreadable, M = movement, W = wake, R = REM, 1 = N1, 2 = N2, 3 = N3) represent sleep stages according to 2018 American Academy of Sleep Medicine guidelines for scoring sleep.The gray areas represent 2-hour periods of wakefulness between naps.

The nighttime overnight PSG record demonstrated short sleep latencies and SOREM (Table 1). There was fragmented sleep with a high wake after sleep onset index of over 200, with anything above 50 being regarded as above-average fragmentation. Although the patient’s sleep was poor with efficiencies of around 50%, all sleep stages were still present including N3 and rapid eye movement sleep. Overnight, her apnea-hypopnea index was mildly elevated (12, normal range < 5). The periodic limb movement index was normal (1.1, normal range < 5). Overall, her overnight PSG, MSLT, and video findings were consistent with a diagnosis of narcolepsy type 1 and cataplectic facies.

Outcome

Following the test, she was seen in clinic and proceeded with a combination of low-dose modafinil 50 mg and venlafaxine 37.5 mg. She showed a remarkable response with improvement in hypersomnolence and cataplectic attacks, which went into full remission. Although her tongue protrusion persisted, these symptoms were not troublesome to her. Her Epworth Sleepiness Scale score reduced significantly to 6/24. Moreover, her blood pressure remained stable. She remarked “I’ve got my life back.”

At follow-up at 3, 7, and 12 months, she maintained improvement in her symptoms and is “attack free” on venlafaxine 75 mg and modafinil 150 mg. However, she has had a long-standing problem of initial insomnia and remains on clonazepam 1 mg and phenergan 10 mg initiated by her general practitioner.

DISCUSSION

Cataplexy is typically defined as an “episodic, bilateral loss of muscle tone, triggered by emotions and with preserved consciousness.”¹² The clinical presentation of cataplexy in children can differ significantly from that in adults.³ In children, cataplexy presents with dyskinetic and dystonic movements,³ and a prominent facial involvement, for which the term “cataplectic facies” has been coined. Cataplexic facies and dyskinetic and dystonic movements are known to completely resolve as the disease progresses. It is possible that disease onset and progression may follow a path similar to the proposed model of disease progression for type 1 diabetes.¹³ Applying this model, individuals with a genetic predisposition to narcolepsy type 1 may initially be exposed to an environmental trigger. This subsequently activates the disease-causing antibodies resulting in a gradual decrease in hypocretin-secreting neurons (the preclinical disease condition¹³). Subsequently the loss of hypocretin-secreting neurons would reach a threshold at which point the typical clinical symptoms of type 1 narcolepsy would be manifested, including classic cataplexy.¹³

Cataplectic facies have been described in children¹ and can confound or delay diagnosis of narcolepsy² It is possible in children that this may be the transitional phase between the preclinical disease condition just described and onset of typical narcolepsy type 1 at puberty or in adulthood. This may result in delays to treatment, as was demonstrated in the case of LD. The presence of asymmetrical facial twitching and tongue protrusion can cause diagnostic confusion. In the case of LD it is possible, due to the complexities of this disease and the genetic predisposition of our patient; the hypocretin-secreting neuronal damage may have progressed in such a way as to clinically manifest as atypical cataplectic facies.

In our case, the diagnosis of narcolepsy type 1 was established based on a long-standing history of excessive daytime sleepiness; description and observation of the patient’s habitual episodes from the patient and her partner; as well as from using video overnight PSG. The presentation of tongue protrusion and asymmetrical facial twitching is atypical for narcolepsy type 1 in adults and is mostly seen in children together with dyskinetic and dystonic movements.^1,3,5

The novel circumstances of this case highlight that facial cataplexy can present late in life, in contrast with previous descriptions that report resolution of cataplectic facies before puberty.⁵ It has previously been stated that cataplexic facies is underreported in children.^2,3We suspect this is also the case with respect to atypical presentations of facial cataplexy in the older population. Wider recognition of these features throughout the life course may aid in accurate diagnosis and thereby ensure swift access to appropriate treatment.

DISCLOSURE STATEMENT

All authors have seen and approved this manuscript. The authors report no conflicts of interest.