eMedicine Specialties > Neurology > Pediatric Neurology

Infantile Spasm (West Syndrome): Differential Diagnoses & Workup

Author: Tracy A Glauser, MD, Professor, Departments of Pediatrics and Neurology, University of Cincinnati College of Medicine, Children's Comprehensive Epilepsy Program, Children's Hospital Medical Center of Cincinnati
Coauthor(s): Diego A Morita, MD, Assistant Professor of Pediatrics and Neurology, Department of Pediatrics, Division of Neurology, Cincinnati Children's Hospital Medical Center, University of Cincinnati
Contributor Information and Disclosures

Updated: Apr 10, 2006

Differential Diagnoses

Epilepsy in Children with Mental Retardation
Epileptic and Epileptiform Encephalopathies

Other Problems to Be Considered

Benign myoclonus of early infancy
Myoclonic-astatic epilepsy

Workup

Laboratory Studies

  • Prior to initiating therapy, consider obtaining some or all of the following laboratory studies:
    • Complete blood count with differential, liver panel, renal panel with electrolytes and glucose, calcium, magnesium, phosphorus, and urinalysis with microscopic examination
    • Metabolic workup including glucose, liver panel, serum lactate and pyruvate, plasma ammonia, serum and urine amino acids, urine organic acids, and serum biotinidase
    • Blood, urine, and cerebrospinal fluid cultures if an infection is suspected
    • Cerebrospinal fluid analysis for cell count, glucose, protein, bacterial and viral culture, lactate, pyruvate, and amino acids

Imaging Studies

  • Overview
    • About 70-80% of patients have abnormal findings on neuroimaging studies.
    • Magnetic resonance imaging (MRI) of the brain provides a more detailed evaluation than does a computed tomography (CT) scan of the brain.
    • Imaging studies should be obtained prior to starting ACTH or steroid therapy, as these therapies are associated with the appearance of apparent brain atrophy as treatment continues.
  • CT scan
    • Structural brain anomalies such as hydrocephalus, hydranencephaly, schizencephaly, and agenesis of corpus callosum can be recognized easily by CT scans.
    • In addition, cerebral calcifications can be observed in patients with tuberous sclerosis or congenital infections.
  • MRI: MRI scans are superior to CT scans in detecting areas of cortical dysgenesis, disorders of neuronal migration, or disorders of myelination.

Other Tests

  • Electroencephalogram
    • Always perform an EEG in patients with suspected infantile spasms, since the diagnosis depends on the presence of specific EEG findings.
    • If possible, obtain prolonged video-EEG telemetry to record both waking and sleep EEG to assist in confirming a suspected diagnosis. A routine 20-minute EEG may not capture the patient while both awake and asleep and thus may miss specific important EEG findings.
  • Interictal electroencephalogram
    • Hypsarrhythmia is the characteristic interictal EEG pattern and consists of chaotic, high- to extremely high-voltage polymorphic delta and theta rhythms with superimposed multifocal spikes and wave discharges (see Image 1). Multiple variations of this pattern are possible, including focal or asymmetric hypsarrhythmia.
    • In one study of 77 patients with infantile spasms, unilateral hypsarrhythmia and asymmetric ictal EEG changes during spasms often occurred together and correlated with focal or asymmetric cerebral lesions on imaging studies. Patients with symmetric hypsarrhythmia and infantile spasms rarely had focal or asymmetric cerebral lesions on imaging studies (most had structural diffuse brain lesions) and overall had better chances for a normal outcome.
    • In a study of 26 patients with infantile spasms, 6 patients (23%) had asymmetric hypsarrhythmia. All 6 had symptomatic infantile spasms and 5 had focal abnormalities on examination or imaging study (4 ipsilateral to the lesion, 1 contralateral). These focal abnormalities may identify a subset of patients with West syndrome who are candidates for focal cortical resections.
  • Ictal electroencephalogram
    • Eleven different types of ictal patterns have been identified in patients with West syndrome.
    • In one study, the most common pattern found in 38% of patients with seizures was a high-voltage, frontal dominant, generalized slow-wave transient followed by voltage attenuation, also termed an electrodecremental episode. These electrodecremental episodes were a feature in 71% of the seizures.
    • No close correlation exists between the type of seizure and the EEG pattern.
  • Ophthalmic examination: Ophthalmic examination may reveal chorioretinitis from congenital infections, chorioretinal lacunar defects in patients with Aicardi syndrome, or retinal tubers in patients with tuberous sclerosis.
  • Wood lamp: Tuberous sclerosis is the single most common recognizable cause of West syndrome. Therefore, a careful examination of the skin for the characteristic hypopigmented lesions of tuberous sclerosis is mandatory. The unaided bedside identification of these lesions may be more difficult in patients with light complexions.

Procedures

  • Lumbar puncture
    • In young infants with early onset of West syndrome, consider a lumbar puncture as part of a full sepsis workup to look for signs of meningitis.
    • In older infants in whom no clear signs of infection are present, a lumbar puncture also is useful in evaluating metabolic causes of West syndrome such as nonketotic hyperglycinemia.

More on Infantile Spasm (West Syndrome)

Overview: Infantile Spasm (West Syndrome)
Differential Diagnoses & Workup: Infantile Spasm (West Syndrome)
Treatment & Medication: Infantile Spasm (West Syndrome)
Follow-up: Infantile Spasm (West Syndrome)
Multimedia: Infantile Spasm (West Syndrome)
References
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Further Reading

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Keywords

infantile spasms, hypsarrhythmia, developmental delay, West syndrome, mental retardation, epilepsy syndrome

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Contributor Information and Disclosures

Author

Tracy A Glauser, MD, Professor, Departments of Pediatrics and Neurology, University of Cincinnati College of Medicine, Children's Comprehensive Epilepsy Program, Children's Hospital Medical Center of Cincinnati
Tracy A Glauser, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

Coauthor(s)

Diego A Morita, MD, Assistant Professor of Pediatrics and Neurology, Department of Pediatrics, Division of Neurology, Cincinnati Children's Hospital Medical Center, University of Cincinnati
Diego A Morita, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and American Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Robert Baumann, MD, Program Director, Professor, Departments of Neurology and Pediatrics, University of Kentucky
Robert Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American College of Epidemiology, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Selim R Benbadis, MD, Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital
Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association
Disclosure: Nothing to disclose.

Chief Editor

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

 
 
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