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Tethered spinal cord syndrome
Spinocerebellar ataxia (NORD)
Transient ischemic attack
Concussion and traumatic brain injury
Shaken baby syndrome
Early infantile epileptic encephalopathy (NORD)
Idiopathic intracranial hypertension
Cavernous sinus thrombosis
Lewy body dementia
Normal pressure hydrocephalus
Restless legs syndrome
Opsoclonus myoclonus syndrome (NORD)
Central pontine myelinolysis
Acute disseminated encephalomyelitis
JC virus (Progressive multifocal leukoencephalopathy)
Adult brain tumors
Acoustic neuroma (schwannoma)
Pediatric brain tumors
Cauda equina syndrome
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Cavernous sinus thrombosis
von Hippel-Lindau disease
Amyotrophic lateral sclerosis
Spinal muscular atrophy
Thoracic outlet syndrome
Carpal tunnel syndrome
Lambert-Eaton myasthenic syndrome
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
Jahnavi Narayanan, MBBS
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.
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.
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