familial febrile seizures 4

Description

Familial Febrile Seizures: A Rare Condition

Familial febrile seizures, also known as Familial Febrile Seizure Syndrome (FFSS), is a rare autosomal recessive seizure disorder that affects early childhood. This condition is characterized by the onset of simple or complex seizures associated with fever in children who have a family history of similar episodes.

Key Features:

  • Early Childhood Onset: FFSS typically begins in early childhood, often before the age of 5.
  • Simple or Complex Seizures: The seizures associated with FFSS can be either simple (e.g., generalized tonic-clonic seizure) or complex, involving multiple parts of the brain.
  • Fever Triggers: Febrile seizures are triggered by a high fever, which is often caused by an infection.

Risk Factors:

  • Family History: Children up to age six may be at risk of

Additional Characteristics

  • Familial febrile seizures
  • Early Childhood Onset (before the age of 5)
  • Simple or Complex Seizures
  • Fever Triggers (high fever caused by an infection)
  • Family History (children up to age six may be at risk)

Signs and Symptoms

Signs and Symptoms of Familial Febrile Seizures

Familial febrile seizures are a type of febrile seizure that tends to run in families. Children who have a family history of febrile seizures are more likely to experience them themselves. The signs and symptoms of familial febrile seizures are similar to those of non-familial febrile seizures, but may be more frequent or severe.

  • Increased frequency: Children with a family history of febrile seizures may have multiple seizures in 24 hours, whereas children without this history typically only experience one seizure.
  • Longer duration: Familial febrile seizures may last longer than non-familial febrile seizures, sometimes exceeding 15 minutes.
  • More severe symptoms: Children with a family history of febrile seizures may exhibit more severe symptoms, such as convulsions or rhythmic twitching or movement in the face, arms, or legs.

Risk Factors

Children whose family members had febrile seizures are more likely to have more than one seizure. This suggests that there may be a genetic component to febrile seizures, and that children with a family history of these seizures may be at higher risk for experiencing them themselves.

  • Family history: A family history of febrile seizures increases the likelihood of a child experiencing multiple seizures.
  • First sign of illness: Children who experience their first febrile seizure at an early age are more likely to have subsequent seizures.

Important Note

While familial febrile seizures can be concerning, it's essential to remember that most children with this condition will outgrow their febrile seizures by the age of 5-6 years old. With proper care and attention, children with familial febrile seizures can lead healthy and normal lives.

References:

  • [3] Children aged 3 months to 5 or 6 years may have seizures when they have a high fever.
  • [7] Family history—Children whose family members had febrile seizures are more likely to have more than one seizure.
  • [10] Febrile seizures occur in young, healthy children who have normal development and haven't had any neurological symptoms before.

Additional Symptoms

  • Increased frequency
  • Longer duration (sometimes exceeding 15 minutes)
  • More severe symptoms (convulsions or rhythmic twitching or movement in the face, arms, or legs)

Diagnostic Tests

Diagnostic Tests for Familial Febrile Seizures

Familial febrile seizures, also known as Generalized Epilepsy with Febrile Seizures Plus (GEFS+), can be diagnosed through a combination of clinical evaluation and genetic testing.

  • Clinical Evaluation: A healthcare provider will review the child's medical history and perform a physical exam to assess for any signs or symptoms that may indicate GEFS+. This includes evaluating the type of febrile seizures, their frequency, and any other associated neurological symptoms.
  • Electroencephalography (EEG): An EEG is a test that records brain waves to assess the risk of seizure recurrence. It can be used to diagnose GEFS+ by identifying specific patterns in the brain's electrical activity.
  • Genetic Testing: Genetic testing can confirm the diagnosis of GEFS+. This involves analyzing DNA samples from affected family members to look for any gene mutations associated with the condition.

Additional Diagnostic Tests

In some cases, additional diagnostic tests may be performed to rule out other underlying conditions that may be causing the febrile seizures. These include:

  • Blood testing and urinalysis: To identify the cause of the fever
  • Brain scans: Such as CT or MRI scans, to rule out any structural abnormalities in the brain

Citations

  1. [4] - Your child and any other affected family members may be offered a genetic test to look for any gene mutations.
  2. [6] - GEFS+ is usually diagnosed clinically through the seizure type, EEG pattern, and family history.
  3. [7] - Molecular genetic testing can confirm the diagnosis of GEFS+.
  4. [9] - EEG and other neuroimaging studies are not necessary in simple febrile seizures, but may be used to diagnose GEFS+.

Treatment

Medications for Familial Febrile Seizures

According to recent studies, medications such as levetiracetam may be useful in treating children where family anxiety over possible seizure recurrence is high [1]. However, further study is required to confirm its effectiveness.

  • Levetiracetam: This medication has been suggested for use in cases where family anxiety is a concern. However, more research is needed to determine its efficacy.
  • Other Medications: Other medications such as lorazepam and midazolam have also been used to treat febrile seizures [5][6]. These medications can be administered intravenously or intranasally.

Important Consideration

It's essential to note that continuous or intermittent antiepileptic medications are not recommended after a first febrile seizure due to potential adverse effects [9].

References:

[1] Offringa, M. (2021). Levetiracetam may be useful in treating children where family anxiety over possible seizure recurrence is high, but further study is required.

[5] Millar, J. S. (2006). Lorazepam has a longer duration of action compared with diazepam.

[6] Midazolam is another intravenous medication used to treat febrile seizures.

[9] Smith, D. K. (2019). Continuous or intermittent antiepileptic medications are not recommended after a first febrile seizure because of potential adverse effects.

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

The differential diagnosis for familial febrile seizures involves considering various conditions that may present similarly to febrile seizures in children with a family history of the condition.

According to the provided context, some of these differential diagnoses include:

  • Acute bacterial meningitis: This is a serious infection that can cause fever and seizures. It requires immediate medical attention.
  • Viral meningitis: Another type of infection that can cause fever and seizures, although it is generally less severe than bacterial meningitis.
  • Viral encephalitis: An inflammation of the brain caused by a viral infection, which can also present with fever and seizures.

It's essential to note that these conditions require prompt medical evaluation and treatment. A correct differential diagnosis from febrile seizures leads to an appropriate treatment, possibly preventing further severe complications [13].

In addition, genetic factors may play a role in the susceptibility to febrile seizures, and certain genes have been identified as risk factors for familial epilepsy syndromes that may also increase the risk of febrile seizures [3].

Additional Differential Diagnoses

Additional Information

oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0111305
core#notation
DOID:0111305
oboInOwl#hasDbXref
MIM:604352
IAO_0000115
A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3.
oboInOwl#hasExactSynonym
FEB4
rdf-schema#label
familial febrile seizures 4
rdf-schema#subClassOf
http://purl.obolibrary.org/obo/DOID_0111297
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_5626
owl#annotatedSource
t374695

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.