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complex cortical dysplasia with other brain malformations 2
Description
Complex Cortical Dysplasia with Other Brain Malformations 2 (CCDMB2)
Complex cortical dysplasia with other brain malformations 2, also known as CCDMB2, is a rare genetic disorder characterized by abnormal neuronal migration and axonal guidance in the brain. This condition is caused by mutations in the KIF5C gene [1].
Key Features:
- Abnormal neuronal migration and axonal guidance
- Microcephaly (small head size)
- Ataxia (coordination and balance problems)
- Severe delayed psychomotor development
- Recurrent seizures (epilepsy) [2]
- Delayed speech and swallowing development
Causes and Genetics:
CCDMB2 is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The KIF5C gene plays a crucial role in neuronal migration and axonal guidance during brain development [3].
References:
[1] CDCBM12 is an autosomal recessive disorder of developmental ... (Source 3) [2] Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and ... (Source 2) [3] A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor ... (Source 5)
Additional Characteristics
- Microcephaly (small head size)
- Recurrent seizures (epilepsy)
- Abnormal neuronal migration and axonal guidance
- Ataxia (coordination and balance problems)
- Severe delayed psychomotor development
- Delayed speech and swallowing development
Signs and Symptoms
Signs and Symptoms
Complex cortical dysplasia with other brain malformations (CDCBM) can manifest in various ways, depending on the severity and location of the malformation. Some common signs and symptoms include:
- Recurrent seizures: Seizures are a hallmark symptom of CDCBM, and they can range from mild to severe in intensity.
- Mild to severe mental retardation: Affected individuals may experience significant cognitive impairment, affecting their ability to learn new things and interact with their environment.
- Strabismus: Abnormal eye alignment or movement can be present in some cases of CDCBM.
- Axial hypotonia: Weakness or flaccidity of the muscles in the trunk and limbs can occur.
- Spasticity: Increased muscle tone, leading to stiffness and rigidity, can also be a feature.
These symptoms can vary widely among affected individuals, and not everyone will exhibit all of them. However, they are commonly reported in cases of CDCBM [1][3][5].
References: [1] - Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. [3] - Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. [5] - The most common symptom of cortical dysplasia is seizures. Some patients may also have problems with their ability to learn new things.
Additional Symptoms
- Strabismus
- Recurrent seizures
- Axial hypotonia
- Mild to severe mental retardation
- spasticity
Diagnostic Tests
Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder that can be challenging to diagnose, but various diagnostic tests are available to aid in the diagnosis. Here are some of the diagnostic tests associated with CDCBM:
- Brain Imaging: Brain imaging studies such as MRI and CT scans can reveal variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia [3]. These imaging studies can also show white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, and other cortical development malformations [5].
- Genetic Testing: Genetic testing for specific genes associated with CDCBM, such as TUBB3 gene, can be recommended for patients suspected to have the disorder [4]. Targeted testing is indicated for family members of individuals diagnosed with CDCBM.
- Diagnostic Exome Sequencing: Diagnostic exome sequencing in persons with severe intellectual disability has been associated with positive results of germline testing, including diagnosis of focal cortical dysplasia type 2A, epilepsy, and intellectual disability [6].
- KIF2A Sequencing: KIF2A sequencing is recommended for patients who are suspected to have cortical dysplasia. Targeted testing is indicated for family members of individuals diagnosed with CDCBM.
It's essential to note that a comprehensive diagnostic evaluation should be performed by a qualified healthcare professional, taking into account the individual's medical history, clinical presentation, and results from various diagnostic tests.
References: [3] - Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of ... [4] - Knowledge on rare diseases and orphan drugs · Search for a diagnostic test · Diagnosis of Complex Cortical Dysplasia with other Brain Malformations (TUBB3 gene). [5] - Brain imaging reveals various cortical development malformations, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, ... [6] - by B Straka · 2022 · Cited by 6 — Diagnosis of focal cortical dysplasia type 2A, epilepsy, and intellectual disability were associated with positive results of germline testing.
Additional Diagnostic Tests
- Genetic Testing
- Brain Imaging
- Diagnostic Exome Sequencing
- KIF2A Sequencing
Treatment
Treatment Options for Complex Cortical Dysplasia with Other Brain Malformations 2
Complex cortical dysplasia with other brain malformations (CDCBM) is a rare disorder that affects the development of the cerebral cortex. While there is no cure for CDCBM, various treatment options are available to manage its symptoms and improve quality of life.
- Medications: The primary goal of medication therapy in CDCBM is to control seizures, which are a common symptom of the condition. Anticonvulsant medications such as phenobarbital, valproate, and levetiracetam may be prescribed to reduce seizure frequency and severity [1][2].
- Everolimus: A study published in 2021 found that everolimus, an mTOR inhibitor, reduced seizure frequency by at least 50% in patients with tuberous sclerosis complex (TSC), a condition closely related to CDCBM [3]. However, the efficacy of everolimus in treating CDCBM specifically is unclear.
- Gene therapy: Researchers are exploring gene therapies as potential treatments for CDCBM. A study published in 2024 investigated the use of AAV9-CAMK2A-EKC gene therapy in a mouse model of mTOR-related malformations, including CDCBM [4]. The results showed promising therapeutic effects, but further research is needed to confirm its efficacy and safety in humans.
- Dietary interventions: Some patients with CDCBM may benefit from dietary changes, such as the ketogenic diet, which can help reduce seizure frequency by altering the body's metabolic state [5].
It is essential to note that each individual with CDCBM may respond differently to these treatment options. A healthcare professional should be consulted for personalized advice and guidance on managing symptoms and improving quality of life.
References:
[1] Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals may experience seizures, among other symptoms [6].
[2] Treatment for CDCBM typically involves controlling seizures with anticonvulsant medications [7].
[3] Everolimus reduced seizure frequency by at least 50% in patients with TSC, a condition closely related to CDCBM [8].
[4] AAV9-CAMK2A-EKC gene therapy showed promising therapeutic effects in a mouse model of mTOR-related malformations, including CDCBM [9].
[5] The ketogenic diet may be beneficial for some patients with CDCBM by reducing seizure frequency through metabolic alterations [10].
Recommended Medications
- Anticonvulsant medications (e.g. phenobarbital, valproate, levetiracetam)
- Gene therapy (AAV9-CAMK2A-EKC)
- Dietary interventions (ketogenic diet)
- everolimus
💊 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
Complex cortical dysplasia with other brain malformations (CCD) is a rare and severe form of cortical dysplasia, characterized by the presence of multiple brain malformations in addition to cortical dysplasia. The differential diagnosis for CCD involves considering various other conditions that may present with similar symptoms and imaging findings.
Conditions to consider:
- Polymicrogyria: A condition characterized by an excessive number of small gyri on the surface of the brain, which can be associated with cortical dysplasia.
- Lissencephaly: A rare congenital disorder characterized by a smooth appearance of the brain's surface due to the absence or underdevelopment of the normal convolutions (gyri).
- Heterotopia: A condition where small islands of gray matter are found in abnormal locations, such as the white matter.
- Cobblestone malformation: A rare congenital disorder characterized by a cobblestone-like appearance of the brain's surface due to the presence of small, rounded gyri.
Additional Differential Diagnoses
- Heterotopia
- Cobblestone malformation
- lissencephaly
- polymicrogyria
Additional Information
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- https://w3id.org/def/predibionto#has_symptom_4341
- owl#annotatedSource
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- disease_ontology
- oboInOwl#id
- DOID:0090133
- core#notation
- DOID:0090133
- oboInOwl#hasDbXref
- MIM:615282
- IAO_0000115
- A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23.
- oboInOwl#hasExactSynonym
- CDCBM2
- rdf-schema#label
- complex cortical dysplasia with other brain malformations 2
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- http://purl.obolibrary.org/obo/DOID_0090131
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- http://www.w3.org/2002/07/owl#Class
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