Early infantile epileptic encephalopathy (NORD)
42,489views
00:00 / 00:00
Videos
Notes
Early infantile epileptic encephalopathy (NORD)
Pathology
Central nervous system disorders
Spina bifida
Chiari malformation
Dandy-Walker malformation
Syringomyelia
Tethered spinal cord syndrome
Aqueductal stenosis
Septo-optic dysplasia
Cerebral palsy
Spinocerebellar ataxia (NORD)
Transient ischemic attack
Ischemic stroke
Intracerebral hemorrhage
Epidural hematoma
Subdural hematoma
Subarachnoid hemorrhage
Saccular aneurysm
Arteriovenous malformation
Broca aphasia
Wernicke aphasia
Wernicke-Korsakoff syndrome
Kluver-Bucy syndrome
Concussion and traumatic brain injury
Shaken baby syndrome
Epilepsy
Febrile seizure
Early infantile epileptic encephalopathy (NORD)
Tension headache
Cluster headache
Migraine
Idiopathic intracranial hypertension
Trigeminal neuralgia
Cavernous sinus thrombosis
Alzheimer disease
Vascular dementia
Frontotemporal dementia
Lewy body dementia
Creutzfeldt-Jakob disease
Normal pressure hydrocephalus
Torticollis
Essential tremor
Restless legs syndrome
Parkinson disease
Huntington disease
Opsoclonus myoclonus syndrome (NORD)
Multiple sclerosis
Central pontine myelinolysis
Acute disseminated encephalomyelitis
Transverse myelitis
JC virus (Progressive multifocal leukoencephalopathy)
Adult brain tumors
Acoustic neuroma (schwannoma)
Pituitary adenoma
Pediatric brain tumors
Brain herniation
Brown-Sequard Syndrome
Cauda equina syndrome
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Syringomyelia
Friedreich ataxia
Neurogenic bladder
Meningitis
Neonatal meningitis
Encephalitis
Brain abscess
Epidural abscess
Cavernous sinus thrombosis
Creutzfeldt-Jakob disease
Central and peripheral nervous system disorders
Sturge-Weber syndrome
Tuberous sclerosis
Neurofibromatosis
von Hippel-Lindau disease
Amyotrophic lateral sclerosis
Peripheral nervous system disorders
Spinal muscular atrophy
Poliovirus
Guillain-Barre syndrome
Charcot-Marie-Tooth disease
Trigeminal neuralgia
Bell palsy
Winged scapula
Thoracic outlet syndrome
Carpal tunnel syndrome
Ulnar claw
Erb-Duchenne palsy
Klumpke paralysis
Sciatica
Myasthenia gravis
Lambert-Eaton myasthenic syndrome
Autonomic nervous system disorders
Orthostatic hypotension
Horner syndrome
Nervous system pathology review
Congenital neurological disorders: Pathology review
Headaches: Pathology review
Seizures: Pathology review
Cerebral vascular disease: Pathology review
Traumatic brain injury: Pathology review
Spinal cord disorders: Pathology review
Dementia: Pathology review
Central nervous system infections: Pathology review
Movement disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Demyelinating disorders: Pathology review
Adult brain tumors: Pathology review
Pediatric brain tumors: Pathology review
Neurocutaneous disorders: Pathology review
External Links
Transcript
Content Reviewers
Yifan Xiao, MDContributors
Jahnavi Narayanan, MBBS
Alex Aranda
Evan Debevec-McKenney
Elizabeth Nixon-Shapiro, MSMI, CMI
With early infantile epileptic encephalopathy, epilepsy means seizure disorder, encephalopathy means brain dysfunction, often due to damage, and ‘early infantile’ refers to the age of onset of the disease, which is usually within the first three months of life.
So, early infantile epileptic encephalopathy, or EIEE, is a disorder characterized by recurrent and unprovoked seizures during early infancy, which can result in severe brain damage.
The nervous system is made up of specialized cells called neurons which receive and send signals from other neurons.
The two neurons communicate at the synapse, where one neuron sends neurotransmitters to the next neuron.
Excitatory neurotransmitters, like glutamate, bind to the receptors on neurons and tell them to open up ion channels and relay an electrical signal.
Inhibitory neurotransmitters like GABA can close the ion channels and dampen down electrical signals.
The most common causes of EIEE are structural brain abnormalities like hemi-megalencephaly where one half of the brain is larger than the other; absence of the corpus callosum, which is a large fiber bundle connecting the left and right hemispheres; and dysplasia, or abnormal development of the cerebral cortex.
Other causes include metabolic disorders like nonketotic hyperglycemia; and mutations in the genes coding for normal development of the neurons.
These include the ARX, or Aristaless-related homeobox, gene, and STXBP1, or syntaxin-binding protein 1, gene.
Regardless of the cause, defective neurons fire synchronously (at the same time) and excessively, resulting in a seizure.
Infants with EIEE typically present with seizures within the first 3 months of life, often in the first 10 days.
The seizures can occur during wakefulness and sleep.
They’re usually generalized tonic-clonic seizures, which means that the muscles in the trunk and extremities suddenly become stiff, the tonic phase, and then jerk, the clonic phase.
Some individuals might have myoclonic seizures which cause short muscle twitches.
Summary
Early infantile epileptic encephalopathy (EIEE) is a severe, chronic neurological disorder that usually begins in the first few months of life. It is characterized by recurrent, severe, and unprovoked seizures which can lead to severe brain damage.
Other symptoms include intellectual disability, and developmental delays. EIEE is difficult to treat, and the long-term prognosis is poor. Treatment focuses on managing seizures and providing supportive care. Some children with EIEE eventually die from complications related to the disease.
Copyright © 2023 Elsevier, except certain content provided by third parties
Cookies are used by this site.
USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.
