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Myoclonic epilepsy masquerading as a tic disorder
Clinical Neurology and Neurosurgery 109 (2007) 509–511
Case report
Myoclonic epilepsy masquerading as a tic disorder N.K. Sethi a,∗ , D. Labar a , J. Torgovnick b a
b
Comprehensive Epilepsy Center, NYP-Weill Cornell Medical Center, K-619, 525 E 68th Street, New York, NY 10021, United States Department of Neurology, Saint Vincent’s Hospital and Medical Centers, New York, NY 10011, United States Received 8 February 2007; received in revised form 21 February 2007; accepted 22 February 2007
Abstract Myoclonic epilepsies comprise a heterogeneous group of epileptic syndromes characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes absence seizures (multiplicity of seizure types). JME (Juvenile Myoclonic Epilepsy) is relatively common and usually responds well to treatment with appropriate anticonvulsants. Others like the progressive myoclonic epilepsy syndromes are relentlessly progressive, associated with cognitive decline and respond poorly to anticonvulsants. Myoclonic epilepsy is frequently misdiagnosed until the patient is specifically asked about the leading symptom, i.e., jerky movements occurring in the morning. We present here a patient who had been misdiagnosed as a tic disorder and treated for the past many years before the correct diagnosis of myoclonic epilepsy was made during an admission for Video-EEG monitoring. © 2007 Elsevier B.V. All rights reserved. Keywords: Myoclonic epilepsy; Myoclonic jerks; Seizures; JME; Tics; Video-EEG
1. Introduction
2. Case report
Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized epilepsy syndrome with multiplicity of seizure types. Patients may present with myoclonic jerks, generalized tonic-clonic seizures or absence seizures, though usually it is the generalized seizure which first brings them to medical attention. Myoclonic jerks typically occur in the morning shortly after awakening and are characterized by quick startle like movements involving the limbs and the trunk. As there is no loss of consciousness with these jerks, these patients may be misdiagnosed as having a movement disorder like a tic disorder and treated inappropriately. It is imperative to enquire specifically about early morning jerks whenever a seizure diagnosis is being considered. Prolonged Video-electroencephalography (Video-EEG) monitoring may further help to clarify the diagnosis.
A-21-year-old right-handed woman was referred to our institution for Video-electroencephalography (Video-EEG) monitoring. She had apparently been well till about a week prior to presentation when she was noticed to have a convulsion by her mother. This prompted admission to a nearby hospital where her neurologist of many years ordered a routine EEG and magnetic resonance imaging (MRI) of the brain. EEG and MRI was reported normal. She was transferred to our institution with a presumptive diagnosis of complicated tics versus non-epileptic seizures. She had been in good health till the age of 16 when she was noticed to have sudden jerks of her arms and legs. These jerks were unaccompanied by loss or impairment in consciousness and their frequency varied from a couple a day to days where she had a clustering of these jerks. She was seen by her neurologist and diagnosed with a tic disorder. Over the ensuing years she was treated for tics with various medications including lamotrigine (Lamictal) and pregabalin (Lyrica). At one point these “movements” were thought to be of psychogenic origin by her treating physicians. Her birth
∗
Corresponding author. Tel.: +1 646 515 5168. E-mail address: [email protected] (N.K. Sethi).
0303-8467/$ – see front matter © 2007 Elsevier B.V. All rights reserved. doi:10.1016/j.clineuro.2007.02.013
510
N.K. Sethi et al. / Clinical Neurology and Neurosurgery 109 (2007) 509–511
history was uneventful and she had no history of meningoencephalitis or significant head trauma. She had no other co-morbidities and was in college majoring in finance. There was no family history of seizures. Neurological examination revealed a thin anxious young lady. Higher mental and cranial nerve examination was normal. Power was 5/5 MRC (medical research council) grade in all four limbs. Deep tendon reflexes were 2(+) symmetrically and plantars were bilaterally downgoing. Video-EEG monitoring was initiated to better characterize these “jerks” and “shakes” as described by the patient. The background was organized. The posterior rhythm was 9 Hz, reactive to eye-opening and eye-closure. Patient had multiple push button events. During these she was noted to have sudden jerks of her right or left arm, at other times there were jerks of the trunk and the head. Multiple myoclonic body jerks occurred during the early morning hours awakening her from sleep. Some of these involved her entire body throwing her off-balance while in bed. Electrographically they were time locked with generalized polyspikes on the EEG record (Fig. 1). A seizure disorder of generalized myoclonic epilepsy was diagnosed and she was started on valproic acid (depakote). At the time of this writing she is “seizure” and “tic” free.
3. Discussion Myoclonic epilepsies comprise a heterogeneous group of epileptic syndromes characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes absence seizures (multiplicity of seizure types). Myoclonic epilepsy is frequently misdiagnosed unless a specific history of jerks specially clustered in the early morning hours on awakening is asked for. In 1989 the Commission on Classification and Terminology of the International League Against Epilepsy defined JME (impulsive petit mal) as follows: “impulsive petit mal appears around puberty and is characterized by seizures with bilateral, single or repetitive, arrhythmic, irregular myoclonic jerks, predominantly in the arms”. Jerks may cause some patients to fall suddenly or drop objects from their hands. No disturbance of consciousness is noticeable, even if the jerks occur in clusters or in myoclonic status epilepticus. Often it is the GTCS or atypical absences that bring these patients to medical attention. The seizures usually occur shortly after awakening and are often precipitated by sleep deprivation, fatigue, stress and alcohol consumption. Because the jerks occur in the morning on awakening, frequently these patients are misdiagnosed as being clumsy
Fig. 1. EEG showing spike and polyspikes and wave discharges time locked to the patient’s myoclonic jerks.
N.K. Sethi et al. / Clinical Neurology and Neurosurgery 109 (2007) 509–511
or just having “a bad case of nerves”. Our patient’s jerks were misdiagnosed as tics until a generalized tonic-clonic convulsion warranted admission to the hospital. Even then she was initially misdiagnosed with non-epileptic seizures as routine EEG and neuroimaging was normal. Seventy-four percent of patients have epileptiform interictal EEG patterns [1]. Interictal EEG may show paroxysmal, generalized, bilaterally symmetrical, 4- to 6-Hz polyspikeand-wave discharges [2]. Classical 3-Hz spike-and-wave complexes or 3-Hz polyspike-and-wave complexes characteristic of typical absence seizures occur in approximately 17% of EEGs. The ictal EEG is characterized by 10- to 16-Hz medium-high amplitude spikes followed by irregular slow waves. Therapy with sodium valproate is the treatment of choice though newer anticonvulsants like lamotrigine, levetriacetam or topiramate can also be tried. Clonazepam controls the myoclonic jerks well but not the GTCS [3,4].
511
As neuroimaging is invariably normal in patients with JME, the diagnosis rests on a comprehensive history and EEG. Prolonged EEG monitoring or overnight Video-EEG monitoring in a comprehensive epilepsy center may help to clarify the diagnosis and prevent unwarranted and potentially harmful treatment decisions as in our case.
References [1] Obeid T, Panayiotopoulos CP. Juvenile myoclonic epilepsy: a study in Saudi Arabia. Epilepsia 1988;29:280–2. [2] Asconape J, Penry JK. Some clinical and EEG aspects of benign juvenile myoclonic epilepsy. Epilepsia 1984;25:108–14. [3] Cavazos JE, Lum F. Article on Juvenile Myoclonic Epilepsy in emedicine. http://www.emedicine.com/NEURO/topic416.htm. [4] Wolf P. Article on Juvenile Myoclonic Epilepsy. http://www.ilaeepilepsy.org/Visitors/Centre/ctf/juvenilemyoclonic.cfm.
Case report
Myoclonic epilepsy masquerading as a tic disorder N.K. Sethi a,∗ , D. Labar a , J. Torgovnick b a
b
Comprehensive Epilepsy Center, NYP-Weill Cornell Medical Center, K-619, 525 E 68th Street, New York, NY 10021, United States Department of Neurology, Saint Vincent’s Hospital and Medical Centers, New York, NY 10011, United States Received 8 February 2007; received in revised form 21 February 2007; accepted 22 February 2007
Abstract Myoclonic epilepsies comprise a heterogeneous group of epileptic syndromes characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes absence seizures (multiplicity of seizure types). JME (Juvenile Myoclonic Epilepsy) is relatively common and usually responds well to treatment with appropriate anticonvulsants. Others like the progressive myoclonic epilepsy syndromes are relentlessly progressive, associated with cognitive decline and respond poorly to anticonvulsants. Myoclonic epilepsy is frequently misdiagnosed until the patient is specifically asked about the leading symptom, i.e., jerky movements occurring in the morning. We present here a patient who had been misdiagnosed as a tic disorder and treated for the past many years before the correct diagnosis of myoclonic epilepsy was made during an admission for Video-EEG monitoring. © 2007 Elsevier B.V. All rights reserved. Keywords: Myoclonic epilepsy; Myoclonic jerks; Seizures; JME; Tics; Video-EEG
1. Introduction
2. Case report
Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized epilepsy syndrome with multiplicity of seizure types. Patients may present with myoclonic jerks, generalized tonic-clonic seizures or absence seizures, though usually it is the generalized seizure which first brings them to medical attention. Myoclonic jerks typically occur in the morning shortly after awakening and are characterized by quick startle like movements involving the limbs and the trunk. As there is no loss of consciousness with these jerks, these patients may be misdiagnosed as having a movement disorder like a tic disorder and treated inappropriately. It is imperative to enquire specifically about early morning jerks whenever a seizure diagnosis is being considered. Prolonged Video-electroencephalography (Video-EEG) monitoring may further help to clarify the diagnosis.
A-21-year-old right-handed woman was referred to our institution for Video-electroencephalography (Video-EEG) monitoring. She had apparently been well till about a week prior to presentation when she was noticed to have a convulsion by her mother. This prompted admission to a nearby hospital where her neurologist of many years ordered a routine EEG and magnetic resonance imaging (MRI) of the brain. EEG and MRI was reported normal. She was transferred to our institution with a presumptive diagnosis of complicated tics versus non-epileptic seizures. She had been in good health till the age of 16 when she was noticed to have sudden jerks of her arms and legs. These jerks were unaccompanied by loss or impairment in consciousness and their frequency varied from a couple a day to days where she had a clustering of these jerks. She was seen by her neurologist and diagnosed with a tic disorder. Over the ensuing years she was treated for tics with various medications including lamotrigine (Lamictal) and pregabalin (Lyrica). At one point these “movements” were thought to be of psychogenic origin by her treating physicians. Her birth
∗
Corresponding author. Tel.: +1 646 515 5168. E-mail address: [email protected] (N.K. Sethi).
0303-8467/$ – see front matter © 2007 Elsevier B.V. All rights reserved. doi:10.1016/j.clineuro.2007.02.013
510
N.K. Sethi et al. / Clinical Neurology and Neurosurgery 109 (2007) 509–511
history was uneventful and she had no history of meningoencephalitis or significant head trauma. She had no other co-morbidities and was in college majoring in finance. There was no family history of seizures. Neurological examination revealed a thin anxious young lady. Higher mental and cranial nerve examination was normal. Power was 5/5 MRC (medical research council) grade in all four limbs. Deep tendon reflexes were 2(+) symmetrically and plantars were bilaterally downgoing. Video-EEG monitoring was initiated to better characterize these “jerks” and “shakes” as described by the patient. The background was organized. The posterior rhythm was 9 Hz, reactive to eye-opening and eye-closure. Patient had multiple push button events. During these she was noted to have sudden jerks of her right or left arm, at other times there were jerks of the trunk and the head. Multiple myoclonic body jerks occurred during the early morning hours awakening her from sleep. Some of these involved her entire body throwing her off-balance while in bed. Electrographically they were time locked with generalized polyspikes on the EEG record (Fig. 1). A seizure disorder of generalized myoclonic epilepsy was diagnosed and she was started on valproic acid (depakote). At the time of this writing she is “seizure” and “tic” free.
3. Discussion Myoclonic epilepsies comprise a heterogeneous group of epileptic syndromes characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes absence seizures (multiplicity of seizure types). Myoclonic epilepsy is frequently misdiagnosed unless a specific history of jerks specially clustered in the early morning hours on awakening is asked for. In 1989 the Commission on Classification and Terminology of the International League Against Epilepsy defined JME (impulsive petit mal) as follows: “impulsive petit mal appears around puberty and is characterized by seizures with bilateral, single or repetitive, arrhythmic, irregular myoclonic jerks, predominantly in the arms”. Jerks may cause some patients to fall suddenly or drop objects from their hands. No disturbance of consciousness is noticeable, even if the jerks occur in clusters or in myoclonic status epilepticus. Often it is the GTCS or atypical absences that bring these patients to medical attention. The seizures usually occur shortly after awakening and are often precipitated by sleep deprivation, fatigue, stress and alcohol consumption. Because the jerks occur in the morning on awakening, frequently these patients are misdiagnosed as being clumsy
Fig. 1. EEG showing spike and polyspikes and wave discharges time locked to the patient’s myoclonic jerks.
N.K. Sethi et al. / Clinical Neurology and Neurosurgery 109 (2007) 509–511
or just having “a bad case of nerves”. Our patient’s jerks were misdiagnosed as tics until a generalized tonic-clonic convulsion warranted admission to the hospital. Even then she was initially misdiagnosed with non-epileptic seizures as routine EEG and neuroimaging was normal. Seventy-four percent of patients have epileptiform interictal EEG patterns [1]. Interictal EEG may show paroxysmal, generalized, bilaterally symmetrical, 4- to 6-Hz polyspikeand-wave discharges [2]. Classical 3-Hz spike-and-wave complexes or 3-Hz polyspike-and-wave complexes characteristic of typical absence seizures occur in approximately 17% of EEGs. The ictal EEG is characterized by 10- to 16-Hz medium-high amplitude spikes followed by irregular slow waves. Therapy with sodium valproate is the treatment of choice though newer anticonvulsants like lamotrigine, levetriacetam or topiramate can also be tried. Clonazepam controls the myoclonic jerks well but not the GTCS [3,4].
511
As neuroimaging is invariably normal in patients with JME, the diagnosis rests on a comprehensive history and EEG. Prolonged EEG monitoring or overnight Video-EEG monitoring in a comprehensive epilepsy center may help to clarify the diagnosis and prevent unwarranted and potentially harmful treatment decisions as in our case.
References [1] Obeid T, Panayiotopoulos CP. Juvenile myoclonic epilepsy: a study in Saudi Arabia. Epilepsia 1988;29:280–2. [2] Asconape J, Penry JK. Some clinical and EEG aspects of benign juvenile myoclonic epilepsy. Epilepsia 1984;25:108–14. [3] Cavazos JE, Lum F. Article on Juvenile Myoclonic Epilepsy in emedicine. http://www.emedicine.com/NEURO/topic416.htm. [4] Wolf P. Article on Juvenile Myoclonic Epilepsy. http://www.ilaeepilepsy.org/Visitors/Centre/ctf/juvenilemyoclonic.cfm.