Biomedical subjects

Douglas R Nordli

Publications and source records attributed to Douglas R Nordli.

15 recordsLinked to original sources

PubMed2006

Epilepsy syndromes undetermined whether focal or generalized in infants.

PURPOSE: To describe the seizures in infants with epilepsy syndromes undetermined whether focal or generalized. METHODS: This was a retrospective video-EEG study of seizures recorded at Children's Memorial Hospital (CMH), Chicago, IL, in infants diagnosed with epilepsy syndromes undetermined whether focal or generalized. RESULTS: Of 69 infants with seizures recorded, 23 (33%) had epilepsies undetermined whether focal or generalized with both generalized and focal seizures, 17 of which (25% of the total) had epilepsies with both focal and generalized seizures not further specified. The predominant seizure type was spasms with focal seizures. CONCLUSIONS: We propose several small modifications to the existing 1989 ILAE epilepsy syndrome classification: epilepsies with both focal and generalized seizures could be re-labeled "pleomorphic epilepsies" for simplicity and should include idiopathic and symptomatic subgroups. We believe these epilepsies are not uncommon in the group of infants with intractable seizures and may have yet to be discovered metabolic and genetic determinants.

Electroencephalography↗

PubMed2006

The clinical-electrographic expression of infantile seizures.

PURPOSE: To describe the electro-clinical expression of seizures in infants (1-24 months). METHODS: We reviewed the video and EEG files of all infantile seizures recorded at Children's Memorial Hospital, Chicago, IL, from 2000 to 2005. Electrographic and clinical features were entered into separate databases. The electrographic component of the database analyzed the predominant location and pattern at onset, the evolution, the termination and the duration of each seizure. The clinical data sheet included 25 items. Each seizure was assigned to a specific category according to its most prominent clinical feature, according to the opinion of both observers. RESULTS: Thirteen seizure types were identified. In a significant number of cases, the EEG correlate could not be predicted on the basis of clinical observations only. Generalized seizures were observed, on average, at a later age than focal seizures. Excluding spasms, the mean duration of seizures was short (36 s). CONCLUSIONS: The results of this study are useful in describing the clinical and electrographic repertoire of infantile seizures. The findings show that video-EEG recordings in infants with frequent, recurrent seizures are useful by fully allowing complete recognition of subtle events, and in fully categorizing the true nature of the ictus. Video-EEG findings and accurate seizure classification may add fundamental information with regards to epilepsy syndrome diagnosis and specific treatment options, including surgery.

Electroencephalography↗

PubMed2006

Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.

BACKGROUND: Microangiopathy has been well described in the brain and muscle of patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). OBJECTIVE: To describe a patient with the common A3243G/MELAS point mutation who had aortic rupture and whose mother also died of large vessel rupture. DESIGN: Case report. SETTING: Collaboration between a primary care hospital and 2 academic tertiary care hospitals. RESULTS: Histologically, there was marked disarray of the smooth muscle architecture of the aorta, and immunohistochemical staining with antibodies against the mitochondrial DNA-encoded cytochrome-C oxidase I subunit showed uniformly decreased immunostaining of the endothelial and smooth muscle cells of the aorta and vasa vasorum. Polymerase chain reaction and restriction fragment length polymorphism analysis showed that the mutation load was 40.5% in blood but 85.3% in the blood vessels. CONCLUSIONS: The severe vasculopathy in this patient is probably directly related to the high mutation load in the blood vessels. Although aortic rupture is an unusual manifestation of MELAS, it is an important potential complication in patients undergoing minor surgical procedures.

Adolescent↗

PubMed2006

Epilepsy syndromes in infancy.

An increasing number of infantile epilepsy syndromes have been recognized. However, a significant number of infants (children aged 1-24 months) do not fit in any of the currently used subcategories. This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures. Issues related to their classification are addressed.

Electroencephalography↗

PubMed2006

Abruptly attenuated terminal ictal pattern in pediatrics.

PURPOSE: We examined the ictal discharges at the end of pediatric seizures and categorized the various patterns. One particular pattern, termed "abruptly attenuated termination" was studied in detail. METHODS: Ictal segments captured on video-EEG monitoring during a 26-month interval were analyzed for a variety of ictal termination patterns, including one that we rigorously defined as abruptly attenuated termination pattern (AAT). We studied the associations between AAT and the other ictal EEG and clinical features. RESULTS: AAT was noted in 16 of 200 (8%) pediatric seizures. All 16 were immediately preceded by repetitive spikes or spike-waves. The presence of AAT also correlated with ictal spread pattern, initial ictal pattern, laterality of onset, seizure duration, age, and epilepsy etiology. AAT is more often noted in children older than 6 months and in children with idiopathic or cryptogenic forms of epilepsy. CONCLUSIONS: The minority of pediatric seizures recorded in a tertiary epilepsy monitoring unit end with diffuse, synchronized abrupt attenuation. AAT probably is the result of an active process that is developmentally related. It appears to require some degree of mature and intact neurophysiology and may involve the thalamocortical circuit.

Adolescent↗

PubMed2006

Usefulness of video-EEG monitoring.

Video-EEG (vEEG) was originally used in specialized centers as part of the evaluation for epilepsy surgery. It is now widely available and often utilized for other indications including: clarifying the nature of paroxysmal events, quantifying the frequency of seizures, and identifying the epilepsy syndrome. Ictal recordings can be obtained in children with refractory seizures during relatively brief studies (recordings lasting less than 24 h) in many circumstances. The information gleaned from an analysis of the ictal events can be very helpful in clarifying the true nature of the epilepsies. Several illustrative clinical cases will be briefly discussed to highlight these points.

Adolescent↗

PubMed2005

Do generalized tonic-clonic seizures in infancy exist?

OBJECTIVE: To determine the frequency of generalized tonic-clonic seizures (GTCS) in infants (1 month to 2 years). METHODS: From a total of 2,112 patients monitored in our video-EEG lab from May 2000 through January 2005, 109 distinct seizures in 77 infants were reviewed. Eight events in eight patients were excluded because of video files insufficiently reliable to determine the clinical characteristics with precision. The clinical manifestations and electrographic features of the remaining 101 seizures in 69 infants were retrospectively analyzed. RESULTS: The authors did not observe a single GTCS. Four patients had icti that resembled GTCS, but careful analysis of these episodes revealed that three of them had a focal onset and that the fourth had a slightly different sequence of events. CONCLUSIONS: Generalized tonic-clonic seizures are rarely, if ever, seen in infants younger than age 2 in a tertiary-care pediatric epilepsy unit. Instead, they more commonly occur in older children, particularly in the well-characterized epilepsy syndromes of childhood and adolescence.

Age Factors↗

PubMed2005

Notched delta, phenotype, and Angelman syndrome.

The notched delta pattern is one of the characteristic EEG features found in Angelman syndrome patients. The purpose of this study was to evaluate the possibility of using the notched delta pattern as a detection tool for Angelman syndrome patients by analyzing its frequency in a tertiary care pediatric center, its specificity for Angelman syndrome, and the age at which it was observed. The authors performed a retrospective review of the video-EEG recordings of all the patients who had either the notched delta pattern or a phenotype consistent with Angelman syndrome. The notched delta was observed in 1.1% of all the EEGs performed. Its specificity for Angelman syndrome was evaluated at 38%. The youngest age at which it was noted was 14 months. The results indicate that the notched delta pattern is relatively rare, but more frequent than expected, and is easily recognizable. The pattern was observed not only in Angelman syndrome patients, but also in children with a spectrum of conditions wider than reported. It is a powerful detection tool for Angelman syndrome when correlated to a suggestive phenotype, and the association of these features should raise suspicion for Angelman syndrome in both infants and adults.

Adolescent↗

PubMed2005

Idiopathic generalized epilepsies recognized by the International League Against Epilepsy.

There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only. All of these syndromes can be easily diagnosed when distinctive features are present. In some cases, such features are not present or only appear later in the course of the disease, making it challenging to distinguish the various syndromes. Electroencephalogram (EEG) is the most helpful laboratory test and often will strongly support the diagnosis of IGE, but may not be very helpful in discriminating between several of the syndromes with overlapping features. The same applies for genetic testing, although it is expected that further research exploring the genotype-phenotype relationships will enhance our abilities to make definitive diagnoses. At the current time, clinical features are still the cornerstone of accurate classification, and accurate classification, in turn, is the best predictor of outcome.

Child↗

PubMed2005

Paroxysmal events in infants: persistent eye closure makes seizures unlikely.

OBJECTIVE: Paroxysmal events are frequent in infancy. A precise diagnosis is often difficult to assign despite adequate history and physical examination. Certain clinical signs may help to suggest the diagnosis, thereby avoiding unnecessary and costly investigations. The aim of this study was to determine the frequency of eye opening during infantile seizures and evaluate the potential usefulness of this simple observation in the differential diagnosis of acute events in infants. METHODS: We performed a retrospective video electroencephalogram review of the seizures recorded in infants at our Epilepsy Center, paying specific attention to eye opening. RESULTS: Ninety-one seizures in 69 infants were included. Eyes were open in 85 (93.4%) cases. CONCLUSIONS: Infants whose eyes are closed throughout the paroxysmal event are most likely not having seizures.

Diagnosis, Differential↗

PubMed2004

The management of epilepsy in children: cognitive and behavioral side effects.

Despite the fact that epilepsy disproportionately affects children, a lack of information exists on cognitive and behavioral side effects of anticonvulsant drug (AED) use in children. This review discusses suggested approaches to optimizing the neurological and psychological well-being of children with epilepsy. Recommended is a multifaceted approach that focuses on evaluating cognitive and behavioral issues in children with epilepsy, staying vigilant to the potential adverse effects of several older AEDs, and employing a wide range of multidisciplinary treatments.

Adolescent↗

PubMed2003

Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

PURPOSE: To characterize seizure types and electroencephalographic features of glucose transporter type 1 deficiency syndrome (Glut-1 DS). METHODS: Twenty children with clinical and laboratory features of Glut-1 DS were evaluated. Age at seizure diagnosis, seizure classification, and response to treatment were determined by chart review. Thirty-two continuous 24-h EEG monitoring sessions and reports of 42 routine EEG studies were assessed. RESULTS: Age at seizure diagnosis was between 4 weeks and 18 months (mean, 5 months). Seizure types were generalized tonic or clonic (14), absence (10), partial (nine), myoclonic (six), or astatic (four). During 24-h EEGs, background activity showed generalized 2.5- to 4-Hz spike-wave discharges (41%), generalized slowing or attenuation (34%), no abnormalities (34%), focal epileptiform discharges (13%), or focal slowing or attenuation (9%). No seizures were captured during 69% of the studies; the remainder had absence (19%), myoclonic (9%), or partial seizures (3%). On evaluation of routine and 24-h EEG studies, focal epileptiform discharges (24%) and slowing (11%) were more frequent in ages 0-24 months. In older children (2-8 years), generalized epileptiform discharges (37.5%) and slowing (21%) were more common. CONCLUSIONS: In all ages, a normal interictal EEG was the most common EEG finding. When abnormalities occurred, focal slowing or epileptiform discharges were more prevalent in the infant. In older children (2 years or older), a generalized 2.5- to 4-Hz spike-wave pattern emerged. Seizure types observed included, absence, myoclonic, partial, and astatic.

Cerebral Cortex↗

PubMed2002

Infantile seizures and epilepsy syndromes.

Despite difficulties in precisely identifying and classifying infantile seizures, most infantile epilepsy syndromes can be classified, at least in broad categories. Infants with intractable epilepsy, however, may be difficult to accurately classify. These patients have complex presentations that do not easily allow labeling into "focal" or "generalized" categories. Within each category of infantile epilepsy, there appear to be benign and severe forms. Classifications based on semiology may be easier to use for all infants with epilepsy. At least three broad categories of epilepsy can be identified: infants with myoclonic seizures, infants with spasms, and infants with focal seizures. Within each category benign and severe presentations exist, with clearly defined, unique features. Whether the various presentations of epilepsy in infants can be cleanly separated into these categories, or need to be considered as points along a biologic spectrum, will require further research.

Adult↗

PubMed2002

Diagnostic difficulty in infants and children.

Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to revise traditional International League Against Epilepsy classifications to make it easier for physicians to accurately diagnose and effectively treat epilepsy in infants and young children. A simplified approach can be formed by combining some of the International League Against Epilepsy recommendations with new findings on the clinical manifestations of pediatric seizures. Refinements in the new system will occur as knowledge of the pathophysiology of epilepsy and genetic susceptibilities expands, but even in its early stages the new classification system has much to offer, resulting in improved patient care and more effective management of the disease.

Child↗

PubMed2002

Classification of infantile seizures: implications for identification and treatment of inborn errors of metabolism.

Metabolic disorders constitute an important cause of neurologic disease, including infantile epilepsy. The inability to characterize seizures and epilepsy syndromes precisely in infants impedes the recognition of features suggestive of specific underlying metabolic and neurodegenerative etiologies. Classification systems using simple descriptions of ictal behaviors can be reliably applied and may aid in the recognition of these disorders. Myoclonic seizures in infancy in particular suggest an inborn error of metabolism. In addition, certain epileptic syndromes are known to be associated with metabolic disorders, including some forms of neonatal seizures, West's syndrome, early myoclonic encephalopathy, and early infantile epileptic encephalopathy. Occasionally, there are distinctive electroencephalographic patterns that may suggest a specific metabolic disease. Earlier recognition of metabolic disorders may be accomplished by careful study of clinical and electrographic characteristics. There are important treatment considerations associated with these disorders.

Electroencephalography↗