Seizure-free after a rare epilepsy diagnosis

Thanks to the expertise of a CHOC Children’s epileptologist, a 12-year-old boy diagnosed with a rare type of epilepsy is seizure-free and has a bright future ahead – the significance of which is underscored in November, Epilepsy Awareness Month.

Gabriel Lucak had been a healthy, normally developing child until age 3, when he suddenly began experiencing seizures.

CHOC Children's Neuroscience Institute patient Gabriel Lucak poses by the ocean
CHOC Children’s Neuroscience Institute patient Gabriel Lucak

What began as a tonic-clonic seizure in May 2008 rapidly progressed to include myoclonic, atonic, and atypical absence seizures. On his worst days, Gabriel experienced up to 50 seizures a day.

“It was like living out a surreal nightmare,” said his mother, Nicole.

Gabriel was initially diagnosed with myoclonic-astatic epilepsy, also known as Doose syndrome. His seizures were difficult to control, and doctors attempted many different treatments, including eight months on a ketogenic diet. During this time, Gabriel was hospitalized numerous times to modify his medication and control his seizures.

Searching for answers

A low point for the Lucak family came about nine months after the seizures began. While hospitalized for respiratory syncytial virus, Gabriel’s seizures increased significantly. An electroencephalogram (EEG) recorded seizures occurring about once a minute and a slowing brain wave frequency. Magnetic resonance imaging (MRI) revealed decreased brain volume. Gabriel’s health was rapidly deteriorating.

Joe and Nicole desperately began looking elsewhere for help, and in March 2009 found a beacon nearly 1,400 miles away in Dr. Mary Zupanc, a pediatric neurologist and one of the nation’s leading epileptologists, who was then practicing in Wisconsin.

Under Dr. Zupanc’s care, Gabriel was placed on a new treatment program. He stopped following the ketogenic diet and began taking a new antiepileptic medication. He underwent a two-week long-term video EEG monitoring study, which revealed he was experiencing a fifth type of seizure – tonic – during sleep.

CHOC epileptologist Dr. Mary Zupanc holds a model of a human brain..
CHOC Children’s pediatric epileptologist Dr. Mary Zupanc

A new diagnosis

Dr. Zupanc then knew that Gabriel’s epilepsy had evolved into a more severe form called Lennox-Gastaut syndrome (LGS). This rare type of epilepsy is marked by seizures that are difficult to control, and typically persist through adulthood.

In addition, Dr. Zupanc diagnosed Gabriel with cerebral folate deficiency, a rare metabolic condition, following a spinal tap and extensive testing on his cerebral spinal fluid. He immediately began taking a folinic acid supplement and following a strict dairy-free diet.

Under this new treatment plan, Gabriel was seizure-free within two months. A second spinal tap showed a normal level of folate, and another MRI had normal results. The Lucaks were thrilled.

“Gabriel could have suffered severe brain damage, or he might not have survived at all,” Nicole said. “That’s how critical it was for us to have found Dr. Zupanc when we did.”

A bright future

Today, Gabriel is an intelligent, creative and artistic 12-year-old who dreams of being a paramedic when he grows up.

He remains under Dr. Zupanc’s care, traveling from San Diego to the CHOC Children’s Neuroscience Institute and its level 4 epilepsy center for appointments and annual long-term EEG monitoring.

Gabriel is also under the care of Dr. Jose Abdenur, chief of CHOC’s metabolics disorders division. Gabriel, his younger brother, Nolan, and his parents have all participated in several research studies involving genetic testing for both epilepsy and cerebral folate deficiency.

Recently, Gabriel was weaned off the antiepileptic medication and continues to be seizure-free.

“He has the opportunity to live a full life in good health, thanks to an amazing series of events that led to experienced doctors, correct diagnoses and effective treatment,” Nicole said.

Learn more about the CHOC Children’s Neuroscience Institute.

Dr. Mary Zupanc: Sharing My Story with Patients

Dr. Mary Zupanc

Undergoing brain surgery herself made Dr. Mary Zupanc a better, more sensitive clinician when working with epilepsy patients, the CHOC Children’s neurologist writes in The New York TimesWell Blog.

Following a late-night seizure and months of seemingly unrelated symptoms, Dr. Zupanc was diagnosed with a bifrontal meningioma in early 2014.

The questions and fear surrounding her subsequent surgery, as well as the recovery process, have clarified Dr. Zupanc’s understanding of the patient and family experience, she writes.

In The New York Times column, Dr. Zupanc tells her story and explains how becoming a patient herself has changed her practice and how she works with patients and families. Read the column to learn more.

Mental Health Effects of Concussions on Adolescents and Teens

By Jonathan E. Roman, Ph.D. and Sharief Taraman, M.D.
Pediatric News

A concussion or mild traumatic brain injury is defined as a transient neurologic change resulting from a biomechanical impact to the head. Given this broad definition, it is not surprising that concussion represents the most common type of traumatic brain injury (TBI). Concussions can be complicated and multifaceted, as patients usually present with various combinations of neurologic, cognitive and psychiatric Concussion Effectssymptoms.

Fortunately, these injuries tend to have a more favorable outcome than do more severe brain injuries, with the vast majority of patients returning to usual functioning within days to weeks, with time and a guided return-to-activity plan. However, there is a subset of patients whose symptoms persist into what has been loosely defined as postconcussive syndrome. These individuals tend to be the greatest challenge for clinicians, and usually benefit from a multidisciplinary team approach, including neurologists, neuropsychologists, physical therapists, and speech pathologists.

Adolescents represent a commonly seen subgroup within the concussion population, most notably because of their frequent involvement in sports and higher-risk activities. Additionally, when injuries do occur at the high school and college level, the impact velocities tend to be at a higher rate than is seen in younger athletes, potentially resulting in more pronounced concussions. Further complicating the situation is that adolescents tend to have busy schedules and multiple responsibilities throughout the school year (when most concussions occur). Thus, when a concussion is sustained, the student athlete not only needs to deal with the immediate symptoms of the injury, but also the potential for academic and social derailment during the recovery process. Combine these issues with a strong body of literature suggesting adolescents tend to have slower resolution than do adults, and you have the recipe for a very bumpy recovery.

Neurologic symptoms usually present as headache, light and noise sensitivity, dizziness, and balance issues. Cognitive symptoms manifest as slower processing speed, feeling foggy, and occasional forgetting or transient confusion. Psychiatric symptoms often include irritability, lability and sadness. A child may have one or many of these symptoms, although more often these symptoms overlap. The patient and their family may not recognize how persistent symptoms of headache and dizziness, for example, can contributeConcussions Teens to memory problems and difficulty concentrating, irritability, and feelings of depression and hopelessness. Children with prolonged symptoms also can feel isolated from their peers while they are sitting out of play and school.

The treatment strategy for managing the emotional and mental health needs of the adolescent concussion patient is dictated by the underlying etiology. It is reasonable to suspect that irritability, a short fuse, and frequent crying during the first few days following injury are a direct result of neurologic disruption, which are not amenable to reason and behavioral interventions. In these cases, the best treatment is to educate the family that this is a transient neurologic state, while ensuring that the patient is protected from environmental stressors. One analogy that parents and patients find helpful is “weathering the storm,” and with time, these symptoms tend to abate. The key here is to normalize the recovery process and provide parents with a realistic recovery trajectory.

The more challenging patient is the child whose symptoms persist for weeks or develop over time, or, even more complicated, the child who had preexisting known or unknown mental health issues. A common theme in working with TBI patients is that brain injuries tend to exacerbate preexisting conditions. In these cases, good history taking is the foundation for good mental health management.

Key questions include: Is there a preexisting history of learning disability and/or attention-deficit/hyperactivity disorder (ADHD)? Are there preexisting or current family stressors? Has the child ever been in therapy before? How much school has the child missed? How has the school responded to the child missing tests and assignments? Is the child being pressured by teachers or coaches to return to activity? The answer to these and other questions will dictate how mental health issues should be addressed.

As a pediatrician, a release to talk with the school can clear up many of the return-to-activity stressors or may help to better understand the contribution of preexisting learning struggles or ADHD. Again, it is particularly important to have an awareness of premorbid history, as head injuries tend to exacerbate or accentuate preexisting symptoms. The full utility of the multidisciplinary team is accentuated in these situations, and a referral to a psychologist familiar with concussion is often the next step. Short-term medication management also may be considered, with additional referral to a psychiatrist for long-term management as necessary.Concussions Teens

Although fairly uncommon, the circumstances of a concussion can result in posttraumatic stress disorder (PTSD) or acute stress disorder, particularly when considering that concussions do not have to result in loss of consciousness during the event. It is important to at least screen for PTSD in situations in which there is the strong potential for this (in other words, an event that involved threatened death or serious injury to self or other, was the result of an assault, and resulted in intense fear or horror). Some symptoms to look for include intense psychological distress, recurrent distressing recollection, and frequent nightmares of the event, flashbacks, hypervigilance, and exaggerated startle response, and feelings of detachment from others. If these symptoms are present, a mental health evaluation and treatment would be the next logical step.

Concussion is a relatively common occurrence in adolescence and has received increased interest in recent years. It is important for pediatricians to be aware of the neurologic, cognitive, and psychiatric/emotional symptoms of concussion and how these symptoms often overlap. The management of mental health issues in concussion depends on the stage of recovery, the impact of the concussion on academic and social functions, whether preexisting issues exist, and the circumstances of the injury. In certain situations, mental health symptoms can be headed off in the pediatrician’s office, while more complicated and protracted recoveries necessitate a multidisciplinary team that includes mental health professionals.

Dr. Romain is a neuropsychologist at the Children’s Hospital of Orange County, Calif., and was the primary author of this commentary. He provides neuropsychological evaluations at the CHOC multidisciplinary concussion clinic. Dr. Taraman is a pediatric neurologist at the hospital. Dr. Romain and Dr. Taraman said they have no relevant financial disclosures.

Originally published on Sept. 3, 2014 in Pediatric News. Republished onto the CHOC Docs Blog with permission from Pediatric News.

Epilepsy Syndromes You Should Recognize

By Dr. Mary ZupancCHOC
Pediatric News

Epilepsy is common, occurring in approximately 1 percent of people, with peak onset in infancy and childhood. It can have severe consequences in the developing brain, resulting in “hard wiring” for continued seizures and permanent cognitive, psychosocial, and motor delays. The critical factor in determining treatment and prognosis is recognizing the specific epilepsy syndrome.

The types of seizures factor into identifying epilepsy syndromes. One type, gene ralized seizures, includes generalized tonic-clonic seizures (formerly called “grand mal” seizures), tonic seizures, atonic seizures, or absence seizures (formerly called “petit mal” seizures).

Partial seizures, the other type, start in focal area of the brain and can spread to other areas. Simple examples of partial seizures (with no consciousness alteration) are “auras,” such as detecting a bad odor or taste, or experiencing déjà vu, jamais vu, or a feeling of dread. An example of a complex partial seizure (focally generated, but with alteration of consciousness) would be a staring spell, followed by head and eye deviation, with associated automatisms or stereotypic, repetitive movements.

Other signs and symptoms also help identify epilepsy syndromes: age of onset; clinical seizure semiology; medical history; developmental/academic history; family history; physical examination (including a complete neurologic examination); and diagnostic tests, including EEG, MRI, and other exams.

Infantile spasms

This is a commonly missed generalized epilepsy syndrome because the spasms can easily be confused for normal baby movements.

This syndrome typically occurs between 4 and 10 months. It is characterized by clusters of flexor or extensor “spasms” that frequently occur when an infant awakens, during drowsiness, or upon sleep. Spasms can be subtle, perhaps characterized only by a slight head drop or eye rolling, in clusters.

Causes of infantile spasms include brain malformations, infection, chromosomal abnormalities, stroke, inborn metabolism errors, or tumors. Early recognition is critically important as infantile spasms can develop into intractable epilepsy. If they are recognized within four to six weeks of onset, the ability to eliminate the infantile spasms and hypsarrhythmia EEG pattern is improved. The prognosis also is improved.

The therapy mainstay is adrenocorticotropic hormone (ACTH), injected daily for six to eight weeks. Prospective studies indicate that three-quarters of patients experience remission with this therapy. However, for children with tuberous sclerosis and infantile spasms, many physicians will use vigabatrin (Sabril) as a first-line therapy.

Infants with infantile spasms generally have a poor prognosis, with high risks of continued epilepsy, cognitive impairments, and developmental delays. This is a testament to the catastrophic consequences of even brief, recurrent seizures in developing brains.

Other generalized epilepsy syndromes include childhood absence epilepsy, juvenile absence epilepsy, and juvenile myoclonic epilepsy (JME) – all idiopathic with a probable genetic predisposition. Many such syndromes are secondary to mutations in the T-type calcium channel or gamma-aminobutyric acid channel.

Childhood absence epilepsy

It typically presents between ages 4 and 9 years. It is associated with absence seizures – brief episodes of staring, with no postictal phase, occurring multiple times daily – with a 17 percent chance of comorbid generalized tonic-clonic seizures. Ethosuximide and valproate are the only antiepileptic drugs with proven efficacy.

Juvenile absence epilepsy

It presents similarly to childhood absence epilepsy, but after age 10 years. The risk of generalized tonic-clonic seizures, in addition to absence seizures, is 80 percent.

Juvenile myoclonic epilepsy

JME presents at puberty, usually with generalized tonic-clonic seizures and myoclonic seizures in the morning. Absence seizures are less prominent or nonexistent. JME is lifelong epilepsy. Appropriate treatments include valproate, lamotrigine, or levetiracetam.

Benign rolandic epilepsy

Also called benign epilepsy with central-temporal spikes, it is the most common childhood epilepsy syndrome. Benign rolandic epilepsy is idiopathic, with a probable genetic predisposition, and generally surfaces in otherwise healthy, cognitively normal children between the ages of 5 and 8 years.

Seizures generally occur soon after falling asleep or in the morning between 4 a.m. and 6 a.m. They usually begin focally with facial twitching and drooling, followed by rapid secondary generalization to a tonic-clonic seizure. Typically infrequent, the seizures are commonly associated with sleep deprivation. The physical examination is normal, but a sleep-deprived EEG demonstrates drowsy and sleep-activated central-temporal spikes, usually bilateral. This syndrome goes into remission at puberty and does not always require antiepileptic medication.

Localization-related epilepsy syndromes

These syndromes that result from remote symptomatic lesions in the brain are more problematic. If the first one to two antiepileptic medications do not control the epilepsy, it is unlikely that additional antiepileptic medication trials will work. Even with complete seizure control, patients can rarely taper off medication. For patients whose seizures continue, epilepsy surgery may be the best option.

Studies confirm that surgery has a 67 to 90 percent chance of obtaining complete seizure control without yielding new neurologic deficits. Clinical studies also demonstrate improved quality of life and developmental outcomes.

Patients undergoing epilepsy surgery have less than 5 percent risk of bleeding, infection, and stroke, and less than 1% chance of death. When comparing these risks with those of continued seizures – depression, anxiety, suicidal ideation, academic failure, poor employment record, and sudden unexpected death in epilepsy or SUDEP – surgery is favorable.

Dravet syndrome

Pediatricians should also not miss Dravet syndrome, or severe myoclonic epilepsy of infancy. This syndrome usually presents at 4-6 months as complex febrile seizures.

Initially, the child’s development and interictal EEGs are normal. However, between age 1 and 4 years, the child develops febrile and afebrile seizures of multiple types, including generalized tonic-clonic, complex partial, tonic/atonic and myoclonic seizures. Interictal EEGs become epileptogenic, with multifocal and generalized discharges. Development falters and a slow but steady cognitive, psychosocial, and motor decline begins; 70 percent have autistic spectrum disorder.

As they age, patients have pes planus (flat feet) and a stooped ataxic gait. They often have sleep disturbances and cardiac abnormalities. These children have higher risks of SUDEP, and 18 percent have immunologic disorders. This epilepsy syndrome is difficult to control, but seizure management is typically optimized with a combination of antiepileptic medications: valproate, topiramate, clobazam, and ketogenic diet. Some common antiepileptic medications will worsen Dravet syndrome seizures: phenytoin, carbamazepine, oxcarbazepine and lamotrigine.

Dr. Zupanc is director of the Pediatric Comprehensive Epilepsy Program at Children’s Hospital of Orange County in Orange, California, and is professor of neurology and pediatrics at the University of California, Irvine. Dr. Zupanc disclosed she is on the advisory board and speakers bureau for Lundbeck and is a consultant to Questcor.

This article was originally published on July 30, 2014 in Pediatric News. Republished onto the CHOC Docs Blog with permission from Pediatric News.