Panayiotopoulos Syndrome - Illustrative Cases

Illustrative Cases

In a typical presentation of Panayiotopoulos syndrome, the child looks pale, vomits, and is fully conscious, able to speak, and understand but complains of “feeling sick.” Two thirds of the seizures start in sleep; the child may wake up with similar complaints while still conscious or else may be found vomiting, conscious, confused, or unresponsive.

Case 1. A girl had 2 seizures in sleep at 6 years of age. In the first fit she was found vomiting vigorously, eyes turned to one side, pale, and unresponsive. Her condition remained unchanged for 3 hours before she developed generalized tonic-clonic convulsions. She gradually improved, and by the next morning was normal. The second seizure occurred 4 months later. She awoke and told her mother that she wanted to vomit, and then vomited. Within minutes her eyes turned to the right. Her mother, who was on her left, asked, "Where am I?" "There, there," the child replied, indicating to the right. Ten minutes later she closed her eyes and became unresponsive. Generalized convulsions occurred 1 hour from onset. Thereafter she recovered quickly. Her EEGs showed occipital paroxysms, but this normalized by the age of 10 years. The patient had in childhood infrequent vasovagal syncopes and/or syncope-like epileptic seizures. At last communication with her, she was 29 years of age and following a successful professional career.

Case 2. This case illustrates autonomic status epilepticus with behavioral disturbances that would be difficult to attribute to seizure activity before the motor focal ictal events. A 6-year-old normal boy had a seizure at 4 years of age while traveling on a train with his parents who vividly described the event: “He was happily playing and asking questions when he started complaining that he was feeling sick, became very pale, and quiet. He did not want to drink or eat. Gradually, he was getting more and more pale, kept complaining that he felt sick, and became restless and frightened. Ten minutes from the onset, his head and eyes slowly turned to the left. The eyes were opened but fixed to the left upper corner. We called his name but he was unresponsive. He had completely gone. We tried to move his head but this was fixed to the left. There were no convulsions. This lasted for another 15 minutes, when his head and eyes returned to normal and he looked better, although he was droopy and really not there. At this stage he vomited once. In the ambulance, approximately 35 minutes from the onset, he was still not aware of what was going on, although he was able to answer simple questions with yes or no. In the hospital he slept for three quarters of an hour and gradually came around, but it took him another half to an hour before he became normal again”. EEG showed occipital paroxysms and MRI was normal. A similar prolonged episode, preceded by behavioral changes, occurred 8 months later at school. He received no medication. Since then he has been well.

Case 3. This case illustrates autonomic status epilepticus with frequent vomiting witnessed from onset. An 8-year-old boy of mixed race had 2 prolonged seizures at the age of 5 years. The first seizure occurred during a brief nap. He woke up and walked with “shaking feet” to his mother, complaining that he felt sick. Within 2 to 3 minutes, his eyes and subsequently his head turned to the extreme right. His mother recalls: “I asked him to look at me, and he would not. If I moved his head to the front, it would go back to the right. Within a minute he vomited, and his eyes started blinking, and there were also tiny jerks of his body, legs, and arms that lasted for a minute. He became unresponsive to anything I said to him. He then was rigid, and he went to a deep sleep like in a coma. In the hospital he continued to be in this unconscious state, ever so often just getting up to be sick, and straight back down again. He did not start to regain consciousness or be aware of people around until about 3 hours later. He was well the next morning and discharged home.” The second seizure occurred 6 months later on a ferryboat trip: “He told me that he felt sick, and on his way to the toilet his eyes and head turned to the right and he was talking out of context, and then he was sick. I thought he was having another fit. He was still able to converse with me in and out of sleep. He did not become unconscious, but he was continuously sick for several hours. By the time we arrived in a hospital 3 hours later, he was improving; he just seemed tired. The doctors told us that this was due to dehydration, for which treatment was provided. He was normal the next morning”. Awake EEG 1 month after the first seizure showed only 1 left-sided occipital and a possible frontal midline spike. A second EEG at 8 years of age showed infrequent central, frontal, and midline spikes during sleep.

Case 4. This case illustrates pure autonomic status epilepticus with EEG midline spikes and subsequent rolandic seizures with centrotemporal spikes. A 9-year-old boy returned from school one day looking tired and pale. Five minutes later, he complained of headache and became agitated and paler. Within 5 minutes, he started banging his head on the wall and soon became unresponsive and floppy “like a rag doll,” as well as incontinent of urine and feces with his eyes widely open and pupils markedly dilated. At this stage, he vomited vigorously. This condition continued on his way to the hospital where he arrived by ambulance half an hour from onset. Three hours later, he was still confused, partly unresponsive, pale, and quiet, and he vomited again. Recovery started 4 hours from onset. He did not convulse at any stage. He was apyrexial, and other autonomic functions were normal. He slept and was entirely normal the next morning, discharged home with the diagnosis “epileptic seizure? probably atypical migraine.” EEG had midline spikes at central midline electrode. On follow-up exam 1 year later, he had 2 typical rolandic seizures, and EEG showed centrotemporal spikes. At last follow-up at 11 years of age, he was well with no further seizures.

Case 5. This case involved seizures manifesting mainly with syncope-like epileptic seizures without emesis. A 7-year-old boy had from 5 years of age approximately 12 episodes of collapse at school. All episodes were stereotyped but of variable duration from 2 to 35 minutes. While standing or sitting, he slumped forwards and fell on his desk or the floor and became unresponsive as if in “deep sleep.” There were no convulsions or other discernible ictal or postictal symptoms.Four EEGs consistently showed frequent multifocal spikes predominating in the frontal regions.

Case 6. This case also illustrates the features of syncope-like epileptic seizures together with other variable autonomic symptoms (emesis, respiratory abnormalities, pallor, mydriasis) in Panayiotopoulos syndrome. A 5-year-old boy at age 13 months woke up vomiting profusely and then, while he was still in bed, became unresponsive and floppy with shallow breathing for 20 minutes. Later the same night, he woke up, vomited, and then collapsed in the bath. He remained flaccid and unresponsive for 1 hour, and his mother, described him as “flat” and pale with dilated nonreactive pupils. At age 20 months, he collapsed on the floor pale, unresponsive, and flaccid for approximately 10 minutes. On another occasion, he was found in bed unresponsive, floppy, and pale for 5 minutes. The last seizure occurred at age 28 months in the nursery. He fell on the floor and remained unresponsive and flaccid for 20 minutes and then he rapidly recovered. EEGs consistently showed multifocal spikes in various brain locations. Cardiologic assessment was normal.

Case 7. This case demonstrates that Panayiotopoulos syndrome can also occur with consistently normal interictal EEGs. At the age of 2 years, a girl had an autonomic status epilepticus during sleep. This was characterized by pallor, progressive impairment of consciousness, and vomiting that lasted 45 minutes. A second episode occurred after 11 months, during sleep, and consisted of impairment of consciousness, hypotonia, deviation of the eyes to the right, hypersalivation, and right-sided clonic convulsions. It was terminated after 45 minutes with rectal diazepam. Treatment with carbamazepine was initiated. After 6 months, she had a third episode similar to the previous ones, but shorter. At the age of 4 years 9 months, during an ambulatory EEG, she had another autonomic seizure with marked ictal EEG abnormalities, but again, the interictal did not show any spikes. Carbamazepine was replaced with phenobarbital. All 12 interictal EEGs during the active seizure period, 6 of them during sleep, were normal. At last follow-up at the age of 16 years, she was well, a good student, unmedicated, and seizure-free for 11 years.

Case 8. This case illustrates that children with Panayiotopoulos syndrome may be misdiagnosed and treated for encephalitis. This boy had a first seizure at age 4 years and 2 months. Whilst sleeping in his mother’s lap, he suddenly vomited. Then his eyes stared into the space upwards, his head deviated to the right, his face turned green and he became incontinent of urine and faeces. The seizure lasted for 15 min and there were no convulsions. Abdominal ultrasound performed because of the vomiting was normal. A second seizure occurred 16 months later at age 5 years and 6 months. At around 10 in the morning he walked into lounge looking pale and irritable. He fell to the floor and developed writhing movements, shaking arms and legs, hypersalivation and incontinence of urine. Convulsions stopped 15 min later with rectal diazepam. He recovered but remained very sleepy. He was febrile ~38.5 °C. He was treated in a major teaching hospital with triple therapy for suspected encephalitis but in the third day after admission this was stopped and he was discharged home. Brain CT scan, EEG and CSF were normal. Subsequent EEGs showed infrequent occipital and frontal spikes. At follow-up aged 7, he was normal and had experienced no further seizures.