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Clinical Epilepsy Case Studies

Sep 23, 2014

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Clinical Epilepsy Case Studies. American Epilepsy Society. Medical Student Cases. Case 1: 5 year-old female with episodes of “Blanking Out”. American Epilepsy Society 2004. Case Study 1.

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Clinical EpilepsyCase Studies American Epilepsy Society

Medical Student Cases Case 1: 5 year-old female with episodes of “Blanking Out” American Epilepsy Society 2004

Case Study 1  A 5 y/o female is brought to your office because of episodic “ blanking out” which began 1 month ago. The patient has episodes in which she abruptly stops all activity for about 10 seconds, followed by a rapid return to full consciousness. The patient’s eyes are open during the episodes and she remains motionless with occasional “ fumbling” hand movements. American Epilepsy Society 2004

Case Study 1  After the episode the patient resumes whatever activity she was previously engaged with no awareness that anything has occurred  She has 30 episodes per day  No convulsions American Epilepsy Society 2004

Case Study 1  Past medical, physical and developmental histories are unremarkable.  No history of previous or current medications; No allergies  Family history is pertinent for her father having similar episodes as a child. American Epilepsy Society 2004

Case Study 1  General physical and neurological examination is normal.  Hyperventilation in your office replicates the episodes.

Case Study 1 EEG for Case Study 1

Case Study 1  What additional studies do you perform, if any?  What is the diagnosis?  How do you initiate medication? If so, Which?  Would you counsel the family regarding prognosis? American Epilepsy Society 2004

Medical Student Cases Case 2: “Nervous” Disorder? American Epilepsy Society 2004

Case Study 2  25 year-old right-handed marketing executive for a major credit card company, began noticing episodes of losing track of conversations and having difficulty with finding words.  These episodes lasted 2-3 minutes.  At times, the spells seemed to be brought on by a particular memory from her past.  No one at her job noticed anything abnormal. American Epilepsy Society 2004

Case Study 2  Patient had no significant past medical history, and took no medicines except for the birth control pill.  She was in psychotherapy for feelings of depression and anxiety, but was not taking medications for mood or anxiety disorder  Her therapist notes that she has been under significant stress from the breakup with her boyfriend. American Epilepsy Society 2004

Case Study 2  What is your differential diagnosis at this point? American Epilepsy Society 2004

Case Study 2  A careful medical history revealed that she had one febrile seizure at age three; no family members had epilepsy.  The psychiatrist prescribed a benzodiazepine sleeping pill to be used as needed, and scheduled her for an electroencephalogram (EEG). American Epilepsy Society 2004

Case Study 2  Prior to the EEG, the patient had an episode while on a cross country business trip, in which she awoke on the floor near the bathroom of her hotel room.  She had a severe headache and noted some blood in her mouth, along with a very sore tongue. She called the hotel physician and was taken to the local emergency room. American Epilepsy Society 2004

Case Study 2  What is your differential diagnosis now? • How would you classify her event?  How would you evaluate the patient in the ER if you saw her after this episode? American Epilepsy Society 2004

Case Study 2  In the ER, a diagnosis of nocturnal convulsion was made.  A head computerized tomographic (CT) scan was normal.  Laboratory tests including a CBC, chemistries and toxicology screen were normal. American Epilepsy Society 2004

Case Study 2  She was given fosphenytoin 1000 mg PE intravenously and observed.  She was discharged home on phenytoin 300 mg per day and referred to a neurologist.  What would the continued evaluation and treatment consist of? American Epilepsy Society 2004

Case Study 2  Neurologist took a complete neurologic and medical history and found patient had an uncomplicated febrile seizure as a toddler, but no other seizures.  There was no family history of epilepsy in her immediate family members.  Medical history is otherwise benign and she has no medication allergies. She had regular menstrual periods since age 13 and has never been pregnant, although she wants to have children.  General and neurologic examination was normal. American Epilepsy Society 2004

Case Study 2  EEG showed right anterior temporal spike and wave discharges.  An MRI of the brain was normal.  Complaint of persistent sedation led to change from phenytoin to lamotrigine, at a dose starting at 50 mg BID increasing by 50 mg/day every two weeks to reach a target dose of 300 mg/day. American Epilepsy Society 2004

Case Study 2  Side effects were explained to the patient. She was also started on folic acid 1 mg per day and was advised to take a multivitamin daily. American Epilepsy Society 2004

Case Study 2 What are the most reasonable choices of antiseizure treatment for this patient? Was an appropriate choice made? What considerations must be made since she is a woman of child-bearing potential? American Epilepsy Society 2004

Case Study 2 Are there considerations regarding the oral contraceptive pill? What is the reason for the extra folic acid and multivitamin? What advice should be given regarding lifestyle (sleep habits, alcohol intake) and driving? American Epilepsy Society 2004

Medical Student Cases  Case 3: 70 yo man with his first seizure American Epilepsy Society 2004

Case Study 3  70 y/o male presents to the ER with a history of a single seizure.  His wife was awakened at 5:30 am by her husband making an odd gurgling noise with his head deviated to the left and left arm tonically stiffened.  This was followed by generalized body jerking  Patient was unresponsive  Event lasted 2 minutes with 10 minutes until full recovery American Epilepsy Society 2004

Case Study 3  In the ER, initially the patient is weaker in the left hand than the right side and is fully responsive and his wife feels that he has returned to baseline.  PMH: Non-insulin dependent diabetes  Family history: Negative for seizures  Social history: No smoking or alcohol use.  Neurological examination: Normal American Epilepsy Society 2004

Case Study 3  Current medications: Glyburide 5 mg/day  Vital signs: BP 200/130, HR 75 ( regular)  RR 14, Temp 100.1 American Epilepsy Society 2004

Case Study 3 Hematocrit 44% Hemoglobin 15.4 g/dL  WBC 12,000/ 80% Neutrophils Platelets 180,000  Sodium 141 meq/L  Potassium 4.2 meq/L  Chloride 99 meq/L  Bicarbonate 27 meq/L  BUN 8 mg/dL  Cr 0.7 mg/dL  Glucose 60 mg/dL American Epilepsy Society 2004

Case Study 3  Urine analysis: 15 WBC/HPF, nitrite positive  ABG: pH 7.3, pCO2- 36, pO2- 86, O2 saturation 93%  CT scan: normal  EEG: minimal bitemporal slowing American Epilepsy Society 2004

Case Study 3 CT Scan American Epilepsy Society 2004

Case Study 3  What work-up is needed after a single seizure?  What are the causes of seizures, including what conditions lower the seizure threshold?  Would you treat this patient or not? If you choose to start a medication, which drug would you choose and why?  What are the predictors of seizure recurrence? American Epilepsy Society 2004

Medical Student Cases  Case 4: A 62 yo male with Continuous Seizures American Epilepsy Society 2004

Case Study 4  A 62 y/o male without significant previous history of seizures presents to the E R following one generalized tonic-clonic seizure.  Initial assessment after the first seizure revealed poorly reactive pupils, no papilledema or retinal hemorrhages and a supple neck. American Epilepsy Society 2004

Case Study 4  Oculocephalic reflex is intact.  Respirations are rapid at 22/min and regular, heart rate is 105 with a temperature of 101.  As you are leaving the room, the patient had another seizure. American Epilepsy Society 2004

Case Study 4  What should the initial management be?  What initial investigations should be performed in this setting?  What is the appropriate management with continued seizures if initial therapy does not terminate the seizures? American Epilepsy Society 2004

Case Study 4  Creatinine- 1.0  Mg 1.0  Na- 132  K- 4.5  Ca- 9.0  Glucose- 90  Laboratory study results: CBC  WBC- 13.1  HGB 11  Plt 200,000 American Epilepsy Society 2004

Case Study 4 What are indications for lumbar puncture in this case?  CSF color- clear  Cell count tube # 1 – 500 RBC/ 35 WBC- 100% Neutrophils  Tube # 3 - 100 RBC/ 11 WBC  Protein 65  Glucose 60 American Epilepsy Society 2004

Case Study 4  Urinalysis- (+) ketones  No White Blood Cells or bacteria  Tox screen: negative for alcohol positive for benzodiazepines American Epilepsy Society 2004

Case Study 4 You obtain an MRI of the brain with the following images American Epilepsy Society 2004

Case Study 4 American Epilepsy Society 2004

Case Study 4  Which of the above studies helps to explain the current seizures?  Would you ask for other studies?  What are the CSF findings during repeated convulsions? American Epilepsy Society 2004

Case Study 4  Define Status Epilepticus.  Describe the systemic manifestations of status epilepticus.  What causes status epilepticus?  What is the role of EEG in status epilepticus management? American Epilepsy Society 2004

Medical Student Cases  Case 5: 51 year old female with frequent seizures American Epilepsy Society 2004

Case Study 5  Seizure History: Her birth was unremarkable except that she was born with syndactyly requiring surgical correction.  Early developmental milestones were met at appropriate ages.  She had her first convulsive episodeat age 2 in the setting of a febrile illness. American Epilepsy Society 2004

Case Study 5  How would you evaluate and treat a patient with a febrile seizure?  What clinical features are important in guiding your evaluation? American Epilepsy Society 2004

Case Study 5  She began to develop a new type of episode in the third grade.  The attacks consisted of her seeing a pink elephant that was sitting on various objects and waving to her.  The patient has subsequently found a ceramic model of an elephant that was the same as the elephant that she saw during her seizures. American Epilepsy Society 2004

Case Study 5  How are her symptoms different from most patients with schizophrenia? American Epilepsy Society 2004

Case Study 5  She was not diagnosed with seizures until the age of 15.  Initially, the seizures were controlled with medicine.  After a few years, however, the attacks re-occurred despite treatment with anticonvulsants. American Epilepsy Society 2004

Case Study 5  At age 20, the seizures changed in character to the current pattern.  The seizures begin with an aura of “a chilling sensation starting at the lower back with ascension to the upper back over the course of 10-20 seconds”. American Epilepsy Society 2004

Case Study 5  Observers then note a behavioral arrest.  She tends to clench her teeth and breath heavily, such that her breathing sounds “almost as if she were laughing”.  She is unable to fully respond to people for 5-10 minutes.  Typically, she experiences 4-5 seizures per month. American Epilepsy Society 2004

Case Study 5  She has had several EEGs in the past; the most recent available report is from seven years ago, which revealed mild, diffuse slowing of background elements with no abnormalities noted during three minutes of hyperventilation and photic stimulation.  She had an MRI 13 years ago with no reported abnormalities. American Epilepsy Society 2004

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Epilepsy Case Presentation and Diagnostic Process

A key opinion leader presents the case of a 16-year-old male with epilepsy, and considers the diagnostic process to accurately determine the classification. 

Trevor Resnick, MD : The case that forms the basis for this discussion is a 16-year-old boy who presents with a convulsion while eating lunch at school. And the convulsion started with him flinging his soda up into the air. He had no prior history of any risk factors other than sensitivity to bright lights and video games.

He was seen by a neurologist. The neurologist did an examination, some blood testing, an MRI, which was normal, and then did an EEG [electroencephalogram], which demonstrated a 4-Hz generalized spike-and-wave pattern, and a photoparoxysmal response at flash rates of 12, 14, 16, and 18 Hz.

Two months after that first incident he had another convulsion, and his teachers reported that he would stare into space in class. He was ultimately diagnosed with partial seizures, with secondarily generalized tonic-clonic seizures. He was initially treated with levetiracetam, 500 mg twice a day, but soon after starting therapy he experienced fatigue and dizziness, and his parents observed that he was more aggressive, more irritable at home, and this was also being reported to the parents by his teachers.

If we put the EEG aside, because the EEG is part of the testing that takes this from a diagnosis of a seizure or 2 seizures and moves it in a direction of a classification of an epilepsy or an epilepsy syndrome. And there are various things that can do that. It can be either an EEG, it can be an imaging study, it can be a genetic mutation. It can even be family history. All these things go into the piece of the puzzle that enables us, or sometimes doesn’t enable us, to make the diagnosis of an epilepsy syndrome.

In this case we have 2 clinical seizures in a previously healthy adolescent who then has an EEG that provides additional information. If we take it a step at a time, the first piece of information is that he has a seizure that is characterized initially by him throwing a soda into the air, and then him having what is described as a generalized tonic-clonic seizure, and then a week later another similar seizure.

If we start at the top and we say, “OK, this is a seizure that clinically looks like a generalized tonic-clonic seizure, the first question is, is this a generalized seizure, or is this a focal seizure that has evolved into a generalized seizure?” And with the information that we have from the clinical story, one would have to say, “I don’t know, it could be either.”

And then the question is, “Well, how do we then look into it further?” Looking into it further to see whether it’s one or the other would require either more clinical information, which we don’t have, or additional tests like an EEG and/or an MRI. In this case the only information we have is an EEG, and the EEG shows findings that are very typical and consistent with a generalized seizure, and not a focal seizure evolving into a generalized seizure. I think that’s the first point of discussion in this case.

It’s perfectly reasonable under the circumstances to say, this adolescent had a generalized seizure, and I don’t know whether it’s A or whether it’s B. However, after you’ve done the EEG, then it would be more appropriate to say the EEG findings are more consistent with a generalized seizure, and therefore, he would have to be treated as if he had a generalized seizure.

Video EEG monitoring is a significant tool that we use in diagnosing patients with epilepsy, or in characterizing the nature of the seizure. This case that we’ve been discussing, assuming the EEG wouldn’t have shown us something that was classic for a generalized seizure, assuming it was normal and the patient was having more frequent seizures, a video EEG may have helped us to characterize the nature of the EEG because it’s a longer study. And also, to be able to capture these episodes and enable us to actually diagnose a more specific epilepsy syndrome.

The other scenario is in patients who are having events that appear to be seizures but are not clearly seizures, and under those circumstances video EEG may enable us to discriminate between one and the other.

Another question that comes up, and it comes up in this patient as well, is what tools do you use to get the maximum information from the patients to come up with a diagnosis that is as specific as possible? In many cases you can’t do that. But that’s often where you have to go back in terms of the clinical history, where if you’re suspicious that they have a specific seizure type, you are going to ask about certain things in the history that the patient may not have volunteered because they thought they weren’t important, or they’re so overwhelmed with having had a generalized tonic-clonic seizure that they don’t think to mention the other issue.

I think added clinical information is really important. Family history is significant. Especially in 2020, highly evolved genetic mutation testing that’s ever expanding has provided us with a diagnosis of a genetic mutation as the cause of the patient’s seizures that really wasn’t available to us 20 years ago. And our ability to say this patient has generalized seizures with this specific mutation is a very different way of describing epilepsy than it had been previously.

So genetic mutation testing, imaging studies, family history, clinical history, EEG, a lot of those things we already had, but being able to add these other parameters in has allowed us be much more specific with a diagnosis.

To get back to this adolescent, in this case if you weren’t sure whether the seizure was focal at onset or generalized, then doing an imaging study would be perfectly appropriate to see if there was structural pathology that was causing the patient’s seizures. Once you have an EEG that demonstrates a generalized spike wave on the EEG, the likelihood of the imaging study providing any additional information is very small. This is the kind of case though where doing genetic mutation studies, or an epilepsy panel, may provide additional information, especially if there’s a positive family history of seizures.

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Bromfield EB, Cavazos JE, Sirven JI, editors. An Introduction to Epilepsy [Internet]. West Hartford (CT): American Epilepsy Society; 2006.

An Introduction to Epilepsy [Internet].

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• Cite this Page Bromfield EB, Cavazos JE, Sirven JI, editors. An Introduction to Epilepsy [Internet]. West Hartford (CT): American Epilepsy Society; 2006. Slide 22, [Case Study 2].
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