obsolete infantile epileptic encephalopathy

Obsolete Infantile Epileptic Encephalopathy (IEE): A Rare Neurological Disorder

Obsolete infantile epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE), is a rare and severe form of age-related epileptic encephalopathies. This neurological disorder is characterized by the onset of tonic spasms within the first 3 months of life that can be generalized.

Key Features:

• Age of Onset: Typically begins within the first 3 months of life
• Seizure Type: Tonic spasms, which can be generalized
• Developmental Delays: Impaired global development is a common feature
• Refractory Seizures: Seizures are often unresponsive to medication

Other Related Conditions:

• Ohtahara syndrome or early infantile epileptic encephalopathy (EIEE)
• Early myoclonic encephalopathy (EME)
• Malignant migrating partial seizures in infancy

These conditions are part of a group of disorders known as early infantile epileptic encephalopathies, which are characterized by severe and refractory seizures that can lead to significant developmental delays.

References:

• [1] - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.
• [5] - IESS is characterized by the onset of epileptic spasms between 1 and 24 (peak 3 and 12) months of age, although later onset may occur.
• [15] - Early Infantile Epileptic Encephalopathies. This group of disorders comprises Ohtahara syndrome or early infantile epileptic encephalopathy (EIEE), early myoclonic encephalopathy (EME), and malignant migrating partial seizures in infancy.

Early Infantile Epileptic Encephalopathy (EIEE) Signs and Symptoms

Early Infantile Epileptic Encephalopathy (EIEE), also known as Ohtahara syndrome, is a rare disorder characterized by severe seizures in infants. The symptoms of EIEE can vary depending on the specific type of epilepsy, but some common signs and symptoms include:

• Tonic Seizures: These cause the baby's arms and legs to suddenly stiffen [13].
• Myoclonic Seizures: These cause short, jerking movements of the face, arms, legs or sometimes just a single eyebrow, lip or finger [13].
• Focal Motor Seizures: These cause jerking (called clonic) movements in one area of the body [13].
• Infantile Spasms: Also known as "jack-in-the-box" seizures, these are characterized by brief, sudden contractions of the muscles that can occur up to 150 times a day [11].
• Seizure Clusters: Some babies with EIEE may experience clusters of seizures, where multiple seizures occur in quick succession [11].

It's essential to note that these symptoms can be severe and may require immediate medical attention. If you suspect your baby is experiencing any of these symptoms, it's crucial to consult a pediatrician or a neurologist for proper evaluation and treatment.

References:

[13] - Symptoms of Epileptic Encephalopathy. (Context 13) [11] - Also known as infantile spasms, it is characterized by seizures that last a few seconds and occur in clusters (up to 150 seizures at a time). Some babies will experience up to 60 clusters in a day. ... Symptoms of Epileptic Encephalopathy. (Context 11)

Diagnostic Tests for Obsolete Infantile Epileptic Encephalopathy

Obsolete infantile epileptic encephalopathy (EIEE) is a severe form of epilepsy that affects infants and young children. Diagnostic tests play a crucial role in identifying the underlying cause of EIEE, which can lead to more effective treatment and management of the condition.

Electroencephalogram (EEG)

An EEG is a non-invasive test that measures the electrical activity of the brain. It is a critical diagnostic tool for EIEE, as it can help identify abnormal brain wave patterns associated with the condition [1]. An EEG should include both sleep and wake states to accurately diagnose EIEE [4].

Magnetic Resonance Imaging (MRI)

An MRI scan can help rule out other conditions that may be causing the seizures. While an MRI is not a direct diagnostic test for EIEE, it can provide valuable information about the brain's structure and any potential abnormalities [4].

Genetic Testing

Genetic testing, such as exome sequencing, can identify genetic mutations associated with EIEE. This type of testing can be particularly useful in cases where the underlying cause is unknown or when there are multiple family members affected [3]. The KCNQ2 gene has been identified as a potential contributor to EIEE, and genetic testing may help confirm this diagnosis [6].

Metabolic Tests

Metabolic tests on blood, urine, or spinal fluid can help identify any metabolic disorders that may be contributing to the seizures. These tests are particularly useful in cases where there is suspicion of a treatable metabolic etiology, such as pyridoxine deficiency [15].

Other Diagnostic Tests

Other diagnostic tests, such as an electroencephalogram (EEG) and magnetic resonance imaging (MRI), may also be used to help diagnose EIEE. These tests can provide valuable information about the brain's electrical activity and structure, which can aid in diagnosis and treatment planning.

In summary, a combination of EEG, MRI, genetic testing, metabolic tests, and other diagnostic tests can help identify the underlying cause of obsolete infantile epileptic encephalopathy (EIEE). Early and accurate diagnosis is essential for effective management and treatment of this severe form of epilepsy.

References:

[1] ILAE Commission Report. (2020). Epileptic Encephalopathies: Definition, Classification, and Treatment.

[3] Ohtahara syndrome. (n.d.). In Encyclopedia of Epilepsy and Epileptic Syndromes.

[4] Diagnostic tests for EIEE. (n.d.). In Early Infantile Epileptic Encephalopathy (EIEE) - Diagnosis and Management.

[6] KCNQ2 gene. (n.d.). In Genetic Testing for EIEE.

[15] Metabolic etiologies of EIEE. (n.d.). In Overview of EIDEE Syndrome.

The differential diagnosis for obsolete infantile epileptic encephalopathy (EIEE) involves a range of conditions that can present with similar symptoms and EEG findings.

Conditions to Consider:

• Hypoxic-Ischemic Encephalopathy: This condition can cause seizures and abnormal EEG patterns, making it a differential diagnosis for EIEE.
  • [7] states that "Acute provoked seizures due to hypoxic ischemic encephalopathy, metabolic etiologies, electrolyte disturbances, and other acute causes should be considered in the differential diagnosis of EIEE."
• Metabolic Disorders: Certain metabolic disorders can cause seizures and abnormal EEG patterns, making them a differential diagnosis for EIEE.
  • [3] mentions that "Treatable neurometabolic disorders causing early infantile-onset epileptic encephalopathy should be included in the differential diagnosis."
• Electrolyte Disturbances: Electrolyte imbalances can cause seizures and abnormal EEG patterns, making them a differential diagnosis for EIEE.
  • [7] states that "Acute provoked seizures due to hypoxic ischemic encephalopathy, metabolic etiologies, electrolyte disturbances, and other acute causes should be considered in the differential diagnosis of EIEE."
• Other Acute Causes: Other acute causes such as infections or trauma can cause seizures and abnormal EEG patterns, making them a differential diagnosis for EIEE.
  • [7] states that "Acute provoked seizures due to hypoxic ischemic encephalopathy, metabolic etiologies, electrolyte disturbances, and other acute causes should be considered in the differential diagnosis of EIEE."

Genetic Causes:

• SCN1A Gene: The SCN1A gene is associated with several epilepsy phenotypes, including early infantile epileptic encephalopathy.
  • [13] mentions that "The SCN1A gene, which codes for the alpha subunit of the voltage-gated sodium ion channel, is associated with several epilepsy phenotypes including the rare Dravet syndrome, genetic epilepsy with febrile seizures plus (GEFS+), familial febrile seizures, focal epilepsies, and an early infantile epileptic encephalopathy."

Other Conditions:

• Ohtahara Syndrome: Ohtahara syndrome is a rare form of epilepsy that can present with similar symptoms to EIEE.
  • [12] mentions that "Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome..."
• Neonatal Hypoxic-Ischemic Encephalopathy: Neonatal hypoxic-ischemic encephalopathy can cause seizures and abnormal EEG patterns, making it a differential diagnosis for EIEE.
  • [14] mentions that "A discontinuous EEG pattern with resemblances to S-B can be seen in neonatal hypoxic ischemic encephalopathy..."

It's essential to consider these conditions when differentiating between obsolete infantile epileptic encephalopathy and other causes of seizures and abnormal EEG patterns.