Video Monitoring Recording 02/24/2009

Date of Procedure: Date started: 02/24/2009
Date completed: 02/25/2009

Procedure: 23-hour Video Monitor Recording

Clinical History: This is a 3 yr old child with a history of bilateral perisylvian syndrome, infantile spasms.

Medications: Vigabatrin, continued during the recording

Recording Date: The scalp electrodes were applied according to the International 10/20 system of electrode placement. Zygomatic electrodes were also used. The recording was made on the Nihon Kohden digital EEG system.

Digital EEG Analysis: The automatic seizure-spike detection programs were applied.

Findings: Background activity: The background activity during the awake state consisted of posterior dominant theta activity at 5 Hz. No consistent focal slowing or inter hemispheric asymmetry was noted. During sleep, sleep spindles were noted bilaterally.

Interictal Findings: frequent spikes as well as runs of spike were seen in the left frontal-central-temporal regions involving electrodes F7, T3, and C3, which occasionally showed secondary bilateral synchrony. Additionally, independent spikes were also frequently noted int he right temporal-central-parietal regions. The frequency of interictal epileptiform discharge were more dominant in the left hemisphere and tend to increase while the patient was asleep. However, no ongoing seizures were captured.

Clinical Events: No paroxysmal events were recorded by the family.

Impression: This was a normal video monitor recording.
1) The background activity was diffusely slow for age suggesting diffuse neuronal dysfunction.
2) The presence of frequent interictal spike in the left frontal-central-temporal as well as right temporal-central-parietal which was more dominant in the left hemisphere particularly while the patient was asleep suggested increased risk of epileptic seizure with multi-focal onset.
3) No ongoing seizures or habitual events were captured during the recording.

Video Monitoring Recording

Date of Procedure: Date started: 01/12/2009
Date completed: 01/13/2009

Procedure: 23-hour Video Monitor Recording

Clinical History: This is a 3 yr old child with a history of bilateral perisylvian syndrome, infantile spasms, now having startle episodes again.

Medications: None

Recording Date: The scalp electrodes were applied according to the International 10/20 system of electrode placement. Zygomatic electrodes were also used. The recording was made on the Nihon Kohden digital EEG system.

Digital EEG Analysis: The automatic seizure-spike detection programs were applied.

Findings: Background activity: The background activity during the awake state consisted of posterior dominant theta activity at 5-6 Hz which was bilaterally symmetrical.

During sleep, sleep spindles were seen bilaterally.

Interictal Findings: Interictally there was presence of right temporal-central as well as right temporal-central spike and wave activity seen.

Clinical Events: There were spasms captured. These spasms showed minimal EEG correlation or sometimes the EEG correlation was obscured by EMG activity. Some spasms showed diffuse spike wave activity followed by attenuation. We would not localize the seizure onset..

Impression: This is an abnormal video EEG monitoring. The background activity is slow for age which suggests diffuse neuronal dysfunction. There is present of multi-focal spike and wave activity as well as multiple spasms captured during the recording.

Video Monitoring Recording

Date of Procedure: Date started: 06/28/07
Date completed: 06/29/07

Procedure: 24-hour Video Monitor Recording

Clinical History: This is a 22 month old male with seizure like episodes

Medications: Vigabatrin and Zonegran

Recording Date: The scalp electrodes were applied according to the International 10/20 system of electrode placement. Zygomatic electrodes were also used. The recording was made on the Nihon Kohden digital EEG system.

Digital EEG Analysis: The automatic seizure-spike detection programs were applied.

Findings: Background activity: The background activity during the awake state consisted of posterior dominant theta activity at 5-6 Hz. No consistent background asymmetry was noted. Frequent independent spike and wave activity was noted in the left and right temporal region independently. The frequency of interictal spike and wave activity were higher on the left side. The frequency of interictal epileptiform activity was increased during sleep. Some of the spike and wave activity in the left temporal region showed secondary bilaterally synchrony.

During sleep, vertex waves, sleep spindles were noted bilaterally.

Interictal Findings: No electrographic seizures were captured on this recording.
Clinical Events: A total of six clinical events were documented by the family. The events consisted of either startling (brief body stiffening) or rapid eye twitching. None of the events showed significant evolution of epileptiform activity on EEG. No subclinical seizures were captured.

Impression: This is an abnormal video EEG monitoring. The background activity was within lower normal limits. Independent spike and wave activity in the left and right temporal regions may suggest increase risk of epileptic seizures. Otherwise, no subclinical seizures were captured. No electrographic seizures were captured. None of the clinical events showed EEG correlations. Therefore, these episodes are probably nonepileptic events.

PET Scan

D, a 1 year 7 month old boy, was evaluated in the PET center as a participant in a research study. As part of this evaluation D's mother, completed the Vineland which is a questionnaire that asks about his functioning in numerous domains including communication, daily living, socialization and motor skills. The scores of this questionnaire are reported below, and indicate how mothers perception of D's functioning compares to the functioning of other children his age. It is important to note that this assessment was performed as part of a standardized research protocol and is not intended to be used in lieu of a full clinical evaluation. In addition, clinical history is required for appropriate interpretation of the results. A full clinical evaluation, or referrals, is available at the office. However, these results may be useful to school, medical and other professionals who are following D.

Vineland Adaptive Behavior Scales, Second Edition

COMPOSITE Subscale V-Scaled Score (M=15: SD=3) Standard Score (m=100; SD=15)

Communication Composite Stand. Score 77 Descriptive Range: Borderline
Receptive Communication Scaled Score 12
Expressive Communication Scaled Score 11
Daily Living Skills Composite Stand. Score 80 Descriptive Range: Low Average
Personal Scaled Score 11
Domestic Scaled Score 12
Community Scaled Score 13
Socialization Composite Stand. Score 90 Descriptive Range: Average
Interpersonal Relationship Scaled Score 12
Play and Leisure Time Scaled Score 12
Coping Skills Scaled Score 16
Motor Skills Composite Stand. Score 57 Descriptive Range: Low
Gross Motor Scaled Score 6
Fine Motor Scaled Score 8
Adaptive Behavior Composite Stand. Score 72 Descriptive Range: Borderline

Clinic Letter

*Final Report*
Age: Patient is an 18-month boy.
CHIEF COMPLAINT: Perisylvian syndrome/polymicrogyria

HISTORY OF PRESENT ILLNESS: Parents report that "D" has had no recent seizures or spasms. His last seizure occurred over a year ago. He will occasionally startle with loud noises. Parents report that he will extend his neck and flex his arms forward when this occurs. It appears that D has lost 1 pound since his last visit. The dietitian was consulted and met with the parents to discuss methods for increasing D's caloric intake.

CURRENT DEVELOPMENT: D is in EI program where he receives PT and OT. He also receives PT/OT and speech at Beaumont Hospital twice a week each. D has been making small gains in his development. He has started using his upper extremities more frequently. He is reaching out for objects. He is able to roll from side to side. He is using a gait trainer, taking a few steps in physical therapy. He is babbling a few consonants, but has no speech yet.

PHYSICAL EXAMINATION: D weighs 23 lbs; heart rate is 101 and blood pressure 103/66. D is well-nourished, well-developed, in no acute distress. He is alert, interactive and making good eye contact. Of note, he is drooling quite a bit. Lungs are clear to auscultation bilaterally. Heart has a regular rate and rhythm. Abdomen is soft and not tender. On musculoskeletal exam, strength is 4/5 in upper and lower extremities. D has good head and neck control, but very poor trunk control. He has increased tone in his bilateral upper extremities, bilateral lower extremities. NO parachute reflex was noted.

NEUROLOGICAL EXAMINATION: D is alert, interactive. Pupils are equal, round and reactive. Extraocular movements are intact. There is a positive red reflex. Fundi are not well visualized. NO facial asymmetry. Palate elevates with phonation. Deep tendon reflexes are +2 throughout.

PREVIOUS DIAGNOSTIC STUDIES: D has a VMR in November 2006 which was abnormal with a slow background, occasional spike and wave activity was seen in the right temporo-parieto-occipial region. There were ten events by the parents that were not associated with epileptic activity. D had a CT scan in August 2006 which showed PMG along the perisylvian areas of the brain with a moderate degree of ventriculomegaly. There was no evidence of craniosynostosis on this exam. D also has a barium swallow recently which showed no aspiration, but did show some oral motor dysfunction

IMPRESSION: Perisylvian syndrome, polymicrogyria and epilepsy

TREATMENT PLAN: Continue vigabatrin 250 mg in the morning and 500 mg at bedtime. D will be scheduled for a PET scan. Parents are to call with any questions or concerns. D should return to clinic in four months.

Modified Barium Swallow

Procedure done: 01/08/2007

Procedure: Modified Barium Swallow

Notes: D is a 17 month old infant male who has a diagnosis of congential bilateral perisylvian syndrome, polymicrogyria, and infantile spasms. He is presently recieving out patient OT/PT and speech. D was referred by OT for a modified barium swallow (MBS) to rule out aspiration and assess swallowing safety. Mom reported that Daniel presently eats baby food (stage 2 and some 3's), thick liquids and mashed potatoes. He will eat crackers that will melt in his mouth but nothing that requires mastication. Mom reports that D does not demonstrate any side to side movements with his tongue. D was evaluated this pm before radiology for a MBS. His mother was present. D was positioned upright in the red tumble form feeding chair for the assessment. He was offered the following foods mixed with barium.
Milk via a bottle: D demonstrated severe oral motor dysfunction with the bottle. He demonstrated lingual cupping and stripping of the tongue. He is able to compression and express milk from the bottle. However noted increased spillage from his oral commissions along with increased drooling. Noted consistent protrusion beyond the labial border with a wide jaw excursion. Quality of his suck is poor, but functional for him. No penetration or aspiration noted.
Sweet Potatoes mixed with cereal via a spoon: oral motor central remaining the same as above with no penetration or aspiration noted.
Cheese puff and meat stick: D was given a small (cheerio-sized) piece of meat stick and cheese puff on the lateral sides of his oral cavity. Noted slightly better mobility of the food when placed on the Right vs. the Left. Ability to manipulate the bolus with his tongue and gums is poor. However, he is sensorily aware of the bolus. Oral transit time is significantly delayed. NO penetration or aspiration noted.
Impression: D is a delightful 17 month old little boy with significant oral motor dysfunction. His mother has done an excellent job working with him at home. He receives outpatient OT/PT a& speech and has made gains (per his mother) Mom has a home program that she with with D on.
Recommendations: Offer D thick liquids and pureed foods, soft mechanical diet, soft semi-solid foods to work on mobility lip function and facial tone.
Increase OT oral motor therapy to 2-3x per week

Video EEG

Date of Procedure: November 18, 2006

CLINICAL HISTORY: D is a 15 month male born at full-term with history of infantile spasms and developmental delay

RECORDING DATA: Scalp electrodes were applied according to the International 10/20 system of electrode placement. Zygomatic electrodes were also used. The recording was made on the Nihon Kohden digital system.

DIGITAL EEG ANAYSIS: Automatic spike and seizure detection programs were applied.
Background activity: The background during the awake state consisted of a mixture of felta, theta, and alpha activities ranging from 4-7 Hz, which was bilaterally symmetrical. During sleep, the background consisted of a mixture of delta and theta activity ranging from 2-5 Hz. Sleep spindles, vertex waves, and K complexes were seen bilaterally.

INTERICTAL FINDINGS: Occasional spike and wave activity was seen in the right temporal-partietal-occipital region and independently occasionally spike and wave activity was seen at left temporal-parietal-occipital region. No ongoing seizure was noted.

CLINICAL EVENTS: A total of 10 events were recorded by the parents. These events were characterized by rapid eye blink. None of these episodes showed evolution of epileptiform activity.

IMPRESSION: This was an abnormal video monitoring recording.
1) The background was slow. This finding may suggest diffuse neuronal dysfunction.
2) Occasional spike and wave activity was seen in the tight temporal-parietal occipital region and independently occasional spike and wave activity was seen in the left temporal parietal occipital region. These findings may suggest increased risk of epileptic seizures.
3) A total of 10 events were recorded by the parents. These events were characterized by rapid eye blink and staring. None of these episodes showed evolution of epileptiform activity so therefore; these events were probably nonepileptic in nature.
Clinical correlation was suggested.

Speech and Language Pathology

Evaluation date: 10/12/06

Initial Evaluation

Age: 14 months
Initial Communicative Diagnosis: Severe oral motor delay, Severe expressive language delay, Moderate receptive language delay
Mother accompanied her son, D, to our Center for Childhood Speech and Language Disorders on 10/12/2006 for a speech and language evaluation.

Background Information: information was obtained through a case history and parent interview. Developmental milestones for early speech and language development were reported to be delayed. D did vocalize and babble as an infant. Babbling and some jargon persist. First words have not yet emerged. Mom reported that she first became concerned regarding D's speech and language development following his diagnosis of CBPS, IS, PMG. In February of 2006 D began therapy with Carol, physical therapist. Mom indicated that D has been receiving both PT and OT from February 2006 to the present.

Dr. Cukrowski, Ophthalmolgist, and Dr. Dobyns, Genetics, Neurology, Pediatrics both indicated that D's vision is good with no apparent issues.

Mom reported that audiological screening was conducted during D's hospital stay following his birth. No apparent difficulty with hearing acuity was revealed at that time.

Dr. Alpiner, Pediatric and Adult Physical Medicine and Rehabilitation indicated that D is behind on his motor skills.

Mom reported that D will be seen by the early intervention program through the public school system in June of 2007 for PT, OT and speech and language treatment.

Behavioral Observation:
Upon meeting D int eh waiting room, he was seating in a reclining position within his stroller. He was noted to be smiling and quite interactive with his mother. Separation was not attempted and mom and D accompanied this clinician to the diagnostic suite where they remained for the entire 45 minute session. D was cooperative throughout the evaluation and demonstrated good eye contact and facial expression. Play skills were clearly delayed due to D's reduced upper extremity control.

Receptive Language Functioning:
Mom was invited to remain in the diagnostic suite and act as an informant as the Rosetti Infant Toddler Language Scale (RITLS) was administered. The RITLS is a developmental checklist, which assesses different areas of development in different age ranges. This test is based on development in different age ranges. This test is based on developmental norms.

Receptive Language Functioning:
Results of the RITLS placed D receptive language skills within the six to nine month range. He demonstrated most of the skills in the upper age range such as recognizing family members names, attending to music or singing, responding to "no" most of the time, stopping when name is called, attending to pictures and occasionally waving "bye-bye" During the evaluation D demonstrated difficulty gesturing in response to verbal requests, following simple commands that required movement, and verbalizing or vocalizing in response to verbal requests. It should be noted that vocalizations and verbalization were present but were delayed in nature. It appeared that D had difficulty initiating oral/vocal motor movement. Based on observation and developmental checklist of the RITLS D is demonstrating a moderately severe receptive language delay. It should be noted that it is probably that demonstration of auditory comprehension is greatly effected by D's difficulty with initiation of motor movements as well as difficulty with gross and fine motor planning.
Play Skills:
The RITLS also assesses play skills. D is demonstrating a severe delay in play skills at this time as his scores are falling the three to six month age range. D's delay in development of play skills is clearly directly related to his decreased motor planning. For example, D smiles at himself in the mirror and enjoys frolic play, however, he had great difficulty initiating reaching for objects or participating in games with adults due to his decreased upper extremity motor planning.
Oral Motor Development:
D presented with symmetrical facial features. He appeared to have proper lip closure. D demonstrated production of numerous vowel sounds and when babbling he produced age appropriate phonemes such as /p, b, m, g,d/. An oral peripheral examination was not completed on this date due to D's young age and inability to imitate oral motor movements at this time. Motor planning for oral motor movement was reduced, however, spontaneous smiling was frequent.

Mom reported that D is receiving feeding treatment by an OT. She reported that D sometimes chokes on food, does not yet chew, and is taking stage 3 baby foods.

Expressive Language Functioning:
The RITLS was used to assess D's expressive language skills. At the time of evaluation D demonstrated the ability to vocalize four different syllables and vocalization of two syllable combinations such as "mama" is emerging. Mom reported that D is beginning to repeat syllables but only for the word "mama' at this time. D is demonstrating a severe expressive language delay.

Summary:
D is a 14 month old child who participated in a speech and language evaluation at WBH. Based on parent reported, informal observation and development checklist, D is presenting with a moderate receptive language delay, a severe oral motor delay and a severe expressive language delay.

Recommendations:
A conference was held immediately following the diagnostic session with mom. At that time the above mentioned diagnostic impressions as well as treatment recommendations were discussed. Recommendations are as follows:
1) That D participate in an individual speech and language treatment stimulation program within our center one time weekly for one half hour session.
2) That the family continue with the early intervention program at home and within their public school system

Long Term Goals:
Goal for the first interim may include, but are not limited to the following:
1)Provide the family with an intensive language stimulation home program.
2) Provide a speech and language stimulation treatment program within our center with Anna, SLP. Anna is a speech and language Pathologist who has certification in neurodevelopmental training.

University of Chicago

Letter to Dr. Harry Chugani-

D was seen in the company of his parents in the Medical Genetics Clinic at the University of Chicago on 8/29/2006. He is a 12 month old boy with previous infantile spasms associated with bilateral perisylvian polymicrogyria (PMG). The PMG is relatively extensive, and he has associated seizure disorder, developmental delay and spasticity that more marked in his arms. However, his level of alertness and mobility are good considering the PMG. His parents had questions about cause and especially questions about the outcome. Given the extent of the PMG, mildly small head circumference and spasticity, I think that D will have continuing problems from the PMG including a reverse (arms greater than legs) spastic diplegia, mental handicap and ongoing risk for seizures. The severity of his mental handicap is unclear, but I expect at least a moderate mental retardation, although it is possible it could be more severe. As always, time will tell.

The appropriate genetic testing for D has not all been done. He should have chromosome analysis, telomere FISH, and FISH for deletion 22q11.2 (DiGeorge). None of these tests results were included in his records from the office and his parents are not sure they have been done. So I hope that you can order any not done at his next visit. We also obtained samples for PMG research.

His family history is negative for any similar developmental problems. He is his parents' first child but his mother has four older children, all girls. His mothers pregnancy was complicated by gestational diabetes treated with diet. She has never been on insulin. She had no problems with blood pressure or any other illnesses or trauma during pregnancy. She had 3 to 4 prenatal ultrasounds, all normal, and was age 38 at time of birth. He weighed 5 pounds 8 ounces and length 19 inches. His head size was described as small but his parents did not recall the specifics. His Apgar scores were good. He had slightly elevated bilirubin but fed well and went home at age 2 days.

D seemed to do well at first including apparently normal early development. He had good head control as well as active smiling and laughing early on and learned to roll stomach to back by about three and half months of age. He was having no feeding or other problems at that time. He had the onset of seizures at this time as I will describe below. The seizures were associated with striking regression of his developmental skills, particularly after treatment with the seizure medications Topamax and Klonopin. He did not regain his developmental skills until after successful treatment of his seizures with Vigabatrin. He, thus, began rolling again at about 7 months of age. At present, he had fairly good head control but is still unable to sit except for sitting very briefly when propped.

His parents first saw brief little episodes in which his eyes would open wide as if with a brief stare, followed by a quick return to normal. Within a week they were seeing his tongue out and his mouth help open for a few brief moments. Within another week after that, his arms were flying up and these spells were clearly occurring in clusters. Over the next several weeks, the clusters were obviously occurring more while he was waking until they got to be very frequent, at which time they were occurring at any time of day. His maximum frequency was about 8-15 clusters per day. He saw a nearby neurologist who ordered a routine EEG that was normal, and then a 24-hour EEG, which showed some abnormality leading to diagnosis of infantile spasms. I presume this was hypsarhythmia. He was started on treatment with Topamax and two days later with Klonopin. Very soon after, he began a striking developmental regression.

His parents sought second opinion in your clinic 6 to 8 weeks later, at which time he was sleeping most of the time and irritable. Seizures were continuing although they were hard to see because he was sleeping most of the time. I do not have results of his EEG's at this time. Treatment was changed to vigabatrin with fast tapers of the other two medicines, resulting in much improved alertness and no recurrence of seizures. He actually has had no seizures since that time. His parents do see an occasional stare now, but they are not sure that these are really seizures. An EEG in April 2006, continued to show the "potential for seizures" per his parents, which suggests to me that you saw continuing spike discharges.

Developmentally, he is making progress. He has good visual tracking and will play peek-a-boo. He has had no significant illnesses and had not been in the hospital except for video monitoring. His feeding has been good. When he was quite young, he was a poor feeder because of a lot of spitting up, but still gained weight well. This seemed to get better quite quickly at about 10 months of age. Since then, he has fed well with little if any coughing or gagging. He will occasionally choke on juice. He now takes a full 8 ounce bottle in about 20 minutes and a full meal in 30 to 40 minutes. His parents are adding a little bit of rice or oatmeal cereal to his baby foods to thicken them up. Review of systems was mostly negative except for the problems noted above. He has had no problems with HEENT. He does have consistent drooling and somewhat slow feeding. He has had no problems with his lungs, heart, abdominal organs or kidneys. He has had no problems with hormones or allergies. His developmental problems are noted in the HPI.

On examination, his weight was 9.81 kg., length was 78.5 cm and OFC 43.6 cm. His OFC was -2.5 standard deviations. His pulse was 109, blood pressure 92/54 in the right arm, respiration 24 and temperature 36.6 C. His head appeared slightly small but his facial appearance was normal. He did drool most of the time. I found no other external congenital anomalies. HEENT examination was unremarkable other than the drooling. He had good respiratory effort, clear lung sounds and normal heart. His skin was normal. His abdomen was soft without masses and he had normal male genitalia. His limbs were completely normal except for some mildly deep palmar creases. Neurologically, he was alert and did make good visual contact. I did not hear him produce any words or use any other communication skills. His eye movements were full with no nystagmus. His face was symmetric but he did drool. His motor examination showed normal muscle bulk, but abnormal tone. He had moderate spasticity in the legs and moderate to severe in the arms with brick 3+ tendon reflexes. I also saw some arching, which his parents say has gotten slowly better.

his brain MRI showed extensive PMG involving 80+% of the brain. This was clearly symmetric and most severe in the perisylvian regions. It spared the occipial and anterior frontal regions at lower or inferior levels of the scan. He had mildly enlarged ventricles, which is typical of PMG but normal structures otherwise.

In summary, D had typical moderately severe perisylvian PMG. This is associated with a mild microcephaly, moderate spasticity and infantile spasms, which have fortunately responded favorably to treatment. His overall prognosis is most likely for moderate mental retardation although this could be more severe. This may relate to in part to your continued success in controlling his seizures. I expect he will make some continued progress with his motor skills, but of course the spasticity will not completely resolve given the PMG. More than 90% of children with PMG go on to have recurrent seizures, so he needs to be monitored carefully. I would encourage relatively aggressive treatment of any future seizures.

The genetics of PMG is just getting worked out. Most PMG is sporadic, although X-linked forms are known. The empiric recurrence risk is probably in the 10% range for D's parents, a little higher for male probands than for female probands. PMG has only rarely been seen as an autosomal recessive syndrome and has been associated with ~10 chromosomal deletions or duplications. Chromosome analysis and FISH for telomeres and DiGeorge are the way to start looking for these. I may be able to look for other loci on a research basis. I counseled his parents for a 10% recurrence risk, although they plan no further children. Given the modest risk of X-linked inheritance, his maternal half sisters need to be counseled for a small risk of PMG prior to their childbearing years. They certainly could receive counseling in Detroit, but I would need to speak with the geneticist or genetic counselor ahead of time to provide them some unpublished data. Thank you for sending D for additional opinion and review of the PMG.

From William B. Dobyns

Clinic Letter

D was follwed up in the clinic today. he is an 11-month old boy being seen in the clinic for infantile spasms. He also has bilateral perisylvian syndrome. He is accompanied by both of his parents. He was last seen in teh clinc on 05/17/06.

He started having seizures at 4 1/2 months of age. His seizures at the time were happening at a frequency of about 10-12 clusters per day and during each cluster, we would have approximately 15 spasms. He was tried at first on Topamax and Klonopin without much affect.

He was seen at Children's and was started on vigabatrin during Feb. of 2006 His parents reported that within a few days of starting Vigabatrin, he had significant improvements, and his last spasm was on 02/14/06, which is two days after starting the vigabatrin. At the time of the last visit, he also used to have daily episodes of blank stares with pupillary dilatation. THe family did not report any episodes of blank stares since he was started on Vigabatrin.

He is attaining his developmental milestones fasher, as per the parents. As per the parents, he has attained good head support; he can sit up unsupported. He stands up with support. He started doing that a month back. He tracks, he recognizes peop.e. He mostly babbles. He has started sayng "Ma". He laughs. He is learning how to drink out of a suppy cup. He is eating mostly mashed food at presen, but he has started eating some solid food.

He is getting OT/PT and is on the Early Intercention program. He also had a recent ophthamology ev aluation. There have been no interval medical problems since the last visit.

He sleeps well. There has been no behavioral abnormalities. He was born full-tern. He weighed 5 pounds 8 ounces. He is on vigabatrin 250 mg in the a.m. and 500 mg at night.

Review of System: Review of systems is negative for 10 systems unless otherwise mentioned.

Physical Examination: We couldn't obtain his blood pressure or heart rate. His height is 76.7, weight 9.6 kg. He was well nourished. His head circumference was 42, which is below the two standard deviations for his age. He had persistent drooling. He was awake, alert. He ws trackign well. He was smiling. He was interactive. He had good eye contact.

His pupils were 3mm reacting well to 2 mm. He had full range of conjugate eye movements. Facee appeared symmetric on smiling. He had mildly increased tone in both upper extremities, but the tone in the legs seemed normal. He had good strength in the limbs. His deep tendon reflexes were 2+ symmetrically. His planars were equivocal.

A review of the previous evaluations showed a VEP and WERG done during 07/11/06. which was normal. He had a VMR during April of 2006 which showed interictally frequent independant spikes in teh right temporal, central and parietal and occassional independant spikes int eh bilateral occipial area. There was one cluster of habitual epileptic spasns, which was manifested as a subtle body jerk. The EEG at this time of this spasm showed diffuse seizure onset.

He had an MRI during February of 2006 whcih showed Polymicrogyria with evidence of cortical dysplasia, predominantly in perisylvian distribution.

Impression: D has infantile spasms. He has been seizure free since vigabatrin was started. We would like to repeat his VMR after the next visit. We have advised the parents to continue the vigabatrin at the same dose.

He has a brain malformation with bilateral perisylvian synfrome and polymicrogyria. Considering that he has microcephaly, we would like to frule out cranial synostosis. We have requested a CT of the head with bony reconstructions to look for cranial synostosis. If cranial synostosis is present, we may have to consider surgery.

We have advised the parents on the importance of PT/OP and continuing with the early intervention program. We also discussed in detail with the family the future prognosis rearding perisylvian syndrome.

Visual Evoked Potential and ERG

Date of Procedure: 07/11/2006

Procedure: Visual Evoked Potential and Electroretinogram

Clinical History: D is an 11 month old male w/history of Infantile Spasms
Medications: Current medication include Vigabatrin
Recording Data: The visual evoked potentials were recorded by stroboscopic flash to each individual eye using a rate of 1.7 Hz, a duration of 100 microseconds, and filter setting of 5-100 HZ. A total of 100 sweeps were averaged each time and the study was repeated at least once for confirmation. The recordings were made MO.

Findings: The visual evoked potential by flash P100 peak on the left side was 82 and P100 peak on the right side was 83.5.

Electroretinogram. Wave A on the right side was 24.5 and wave B on the right side was 35.8. Wave A on the left side was 23.0 and wave B on the left side was 37.0.

Impression: There was a normal visual evoked potential and electroretinogram

Clinic Letter

*Final Report*
Date of Visit: 05/17/2006

Medication: Vigabatrin 500 mg tablet, half a tablet in the a.m. and one table in the evening sine last three months (18mg/kg per day)

Medication Tried: Topamax and Klonopin

Allergies: No known drug allergies

Interval History: D is a 9 month old boy who came to the Neurology clinic for follow-up of infantile spasms.

Full-term normal delivery. Birth weight 5 pounds 8 ounces. NO history of admission in the NICU. Seizure onset at 4 1/2 months of age. It started with infantile spasms. He was getting 10-12 clusters a day and each cluster consisted of approximately 15 spasms. The second day after starting the Vigabatrin he stopped having seizures. He was started on 250 mg b.i.d. A month later it was increased to 250 mg in the a.m. and 500 mg int eh evening because off and on he was having dilation of his pupils without any behavioral arrest. The parents have not seen any spasms. His last spasm was 02/14/06, second day after starting Vigabatrin.

He is gaining skills. He has started holding the head better. He started eating solids baby food, sitting up, smiling, laughing, tracking and recognizing people.

He is getting OT and PT 3 days a week. He is also involved in the Early Intervention.

His behavior is good, He is interacting, Sleep is good.

He was seen by an ophthalmologist and his next appointment will be the end of this month.

Past Medical and Surgical History: Infantile Spasms and Developmental delay

Family History: He is the only son of his father. He has four half siblings. Family history is significant for seizures in mom's brother and mom's niece.

Developmental History: He is 9 months old. He can sit with support and babbles. He is interacting.

On Examination: Today his weight is 9.3 kg, height 71.5 cm, heart rate 97 per minute and regular, and blood pressure 100/57. Heart S1 and S2 are heard. Lungs are clinically clear. Abdomen is soft, no mass. Bowel sounds are present. He had a small head, but he is falling sometime. He has no other dysmorphic features. No neurocutaneous stigmata.

Neurological Exam: He is alert, interactive. Pupils are 2mm in size, reacting to light equally on both sides. Visual acuity is good. Field of vision is normal. Fundus is normal. Extraocular movements are normal. No facial asymmetry. Tongue and uvula in center. He has mild drooling of the saliva.

He has generalized hypotonia. Deep tendon reflexes are 2+. No ankle clonus.

Investigations Done: His MRI done on 02/09/2006 showed polymicrogyria with evidence of cortical dysplasia predominately in perisylvian distribution. VMR done on 04/24/2006 for one day showed the background is slow for age. Some segments of the sleep showed hypsarrhythmia. One cluster of habitual events was captured with the EEG showing diffuse seizure onset.

Impression: D is a 9 month baby boy with a falling problem.
1. Brain malformation/bilateral perisylvian syndrome.
2. Infantile Spasms

Video EEG

Date of Procedure: April 24, 2006
CLINICAL HISTORY: Patient is a 8 month old male with history of infantile spasms. Patient is now having daily episodes of blank staring where the patients pupils were dilated.
Medications: Current medications include Vigabatrin
RECORDING DATA: Scalp electrodes were applied according to the International 10/20 system of electrode placement. Zygomatic electrodes were also used. The recording was made on the stellate digital system.
DIGITAL EEG ANALYSIS: Automatic spike and seizure detection programs were applied.
Findings: background activity: the awake background activity showed posterior dominant delta activity at 2Hz, which were reactive to eye opening and eye closure. No significant background asymmetry was seen. No focal slow wave activity was seen. During the sleep state, mixtures of 1-3 Hz delta and 4-6 Hz theta activities were noted. Sleep spindles and vertex waves appeared bilaterally. Some portions of sleep EEG resembled hypsarrhythmia.
INTERICTAL FINDINGS: Interictally, there was frequent spike wave activity in the right temporal region involving t4-t6. In addition, there was frequent independent spike activity in the left temporal-central-parietal region involving t5-t3-p3. There was also occasional independent spike wave activity in the bilateral occipital regions involving o1-o2-oz..
CLINICAL EVENTS: One cluster of habitual seizures was captured. The seizure occurred on day 1A-3 at 11:05. the seizure occurred during the awake state and was characterized by slight dilation of the pupils and subtle body jerks. the cluster consisted of six spasms and lasted 10 minutes.
ICTAL EEG FINDINGS: Ictal EEG showed diffuse slow-wave activity with minimal superimposition of fast wave activities.
IMPRESSION: This is an abnormal one day video monitor recording. The overall background activity was slow for age. In addition, some portions of sleep EEG resembled hypsarrhythmia. These findings may suggest diffuse neuronal dysfunction. Interictally, there were frequent independent spike wave activities in the right temporal region as well as in the temporal-central-parietal region. There was also occasional independent spike wave activity in the bilateral occipital regions. These findings may suggest increased risk of epileptic seizures arising from these bilateral multiple foci. We captured one cluster of habitual epileptic spasms. The seizure occur ed during the awake state and consisted of subtle body jerks associated with slight dilation of the pupils. Ictal EEg showed diffuse seizure onset.

The interictal and ictal EEg findings were consistent with the diagnosis of infantile spasms. The habitual events that the patient is having may be subtle epileptic spasms. Clinical and neuroimaging correlation is recommended.

MRI-Brain/Stem (W/O Contract)

*Final Report*

Date of Test: 02/09/2006

Exam: MRI OF THE BRAIN WITHOUT CONTRAST

History: A 6 month old male born at 40 weeks gestation with new onset of seizures x2 to 3 weeks

Technique:
1. No comparison
2. MRI of the brain was preformed without contrast with multiplanar, multi sequential imaging
3. Sedation utilizing chloral hydrate per the Sedation Team

Findings: This study is limited secondary to motion artifact. As visualized, there is cortical thickening involving the posterior aspects of the bilateral frontal and temporal lobes and the anterior occipital lobe and the bilateral parietal lobes, predominantly with a perisylvian distribution. There is fine cortical undulation. There is sparing of the anterior aspects of the frontal and temporal lobes. These findings are compatible with cortical dysplasia, specifically polymicrogyria. There is a moderate degree of ventriculomegaly involving the third and lateral ventricles, being less prominent within the bilateral occipital horn which may be secondary to the cortical dysplasia versus less likely hydrocephalus. The cerebellar tonsils are in normal position with normal signal. There is no acute hemorrhage, midline shift, or abnormal extra axial fluid collections. The basal cisterns appear within normal limits. There is no evidence of acute ischemia on diffusion imaging. There are normal flow voids within the anterior and posterior circulations.

Impression:
1. Study limited secondary to motion artifact.
2. Findings compatible with a polymicrogyria, cortical dysplasia in a predominately perisylvian distribution as described above.
3. Moderate degree of ventriculoegaly involving the third and lateral ventricles which is likely secondary to the cortical dysplasia with less likely consideration including hydrocephalus.

24 hr. Video EEG

*Final Report*

Date of Test: 02/07/2006

Procedure: Video Monitor Recording

Clincal History: A 6 month old male who is being evaluated for infantile spasms

Medications: Medications at this time include Topamax

Recording Data: This is a video EEG study using a 32 channel EEg system with simulatneous video recording. An even button was used by the mother to identify suspicious episodes

Findings: background activity: This study lasted 24 hours. The background activity was chaotic with no organization. No definite posterior rhythm could be identified. The amplitude was high ranging between 100 and 400 mcv. Frequent spike wave complexes were seen in a multifocal distribution and generalized polyspike and wave dischanges were also noted. The event button was pressed twice. The fist awas at 21:15 when the patient had woken up from sleep. There was a cluster lasting 3-4 minutes compromising of very mild spasms involving the head, trunk, and the legs. Each spasm was associated with a slow giant wave with superimposed fast wave activity. There were about 20 spasms in this cluster. The event button was pressed again at 2:40 a.m. when an arousal was noted and mild spasms in association with crying and giant waves.

Impression: This is a several abnormal recording. It is significant for a positive diagnosis of infantile spasms, since typical events were captured. However, these spasms were attenuated possibly because of medical treatment. In addition, the chaotic high amplitude background with multifocal spikes is consistent with the electrophysiological diagnosis of hypsarrhythmia

EEG Report 30 Minute 01/20/06

Age at test: 5 months old

Sixteen channel EEg performed on this patient using the standard complement of electrodes and utilizing the 10-20 system of electrode placement.

Findings: The patient was awake at the onset of the recording. The background consisted of mixed frequency activity non reactive activity in the posterior and rolandic head regions. There was some 4-5Hz polymorphic theta seen. the Child did become drowsy with diffuse 5-6 Hz theta but did not enter sustained sleep with sleep spindles and V waves. There was no definite epileptiform acticity seen. Movement and EMG artifact ws noted. No asymmetry seen. There were generalized burts of high amplitude sharp waves and spike and waves, follwered by periods of attenuation. There were also independent spike and shart waves seen in a multifocal manner.

Hyperventilation: Not performed

Photic Stimulation: Produced bioccipital recruitment at some flash frequencies.

Clinic comment: This EEG is abnormal for the age of child during the awake state with mild to moderate diffuse neuronal dysfunction. the generalized paroxysmal activity described above can have the potential for generalized seizures. No epileptiform activity or lateralizing features seen. Clinical correlations recommended.