4 free views remaining today

leukoencephalopathy with vanishing white matter 2

Description

Leukoencephalopathy with Vanishing White Matter (VWM): A Rare Neurological Disorder

Leukoencephalopathy with vanishing white matter, also known as childhood ataxia with central nervous system hypomyelination, is a rare autosomal recessive neurological disease. It is characterized by the progressive degeneration of the brain and spinal cord's white matter.

Key Features:

  • Autosomal Recessive Inheritance: The disease is inherited in an autosomal recessive pattern, meaning that both copies of the affected gene in each cell have mutations.
  • Progressive Degeneration: Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).
  • Variable Neurologic Features: The disease is characterized by variable neurologic features, including low muscle tone, seizures, vomiting, rapid breathing, regression of milestones, loss of vision, and a lack of coordination.

Causes and Symptoms:

The exact cause of leukoencephalopathy with vanishing white matter is unknown, but it is believed to be related to mutations in the EIF2B gene. The symptoms of the disease can vary widely among affected individuals, but common features include:

  • Low muscle tone
  • Seizures
  • Vomiting
  • Rapid breathing
  • Regression of milestones
  • Loss of vision
  • Lack of coordination

References:

  1. [1] Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). [6]
  2. The disease is inherited in an autosomal recessive pattern, meaning that both copies of the affected gene in each cell have mutations. [8]
  3. Affected individuals commonly have symptoms such as low muscle tone, seizures, vomiting, rapid breathing, regression of milestones, loss of vision, and a lack of coordination. [4]

Additional Characteristics

  • Vomiting
  • Seizures
  • Rapid breathing
  • Low muscle tone
  • Autosomal recessive neurological disease
  • Regression of milestones
  • Loss of vision
  • Leukoencephalopathy with vanishing white matter
  • Childhood ataxia with central nervous system hypomyelination
  • Progressive degeneration of the brain and spinal cord's white matter
  • Lack of coordination

Signs and Symptoms

Leukoencephalopathy with vanishing white matter (VWM) is a rare neurological disorder that affects the brain's white matter, leading to various signs and symptoms. Some of the common symptoms include:

  • Delayed motor skills development: Affected children may have slightly delayed development of motor skills such as crawling or walking [3].
  • Progressive neurological deterioration: The disorder causes chronic neurological deterioration, mainly with loss of motor skills [8].
  • Movement difficulties: Symptoms can worsen during periods of febrile episodes (episodes of fever) and include movement difficulties, ataxia, spasticity, and seizures [6][9].
  • Loss of ability to walk: Increased difficulty or loss of ability to walk is a common symptom [7].
  • Trouble with speech: Difficulty with speech is also reported in some cases [7].
  • Abnormal body and muscle tone: Abnormal body and muscle tone, abnormal movements, and increased difficulty or loss of ability to walk are also symptoms of VWM [7].

It's worth noting that the adolescent or adult form of VWM presents with slowly progressive unsteadiness and stiffness, with mild to moderately impaired mental capacity [5]. Additionally, some adults may experience behavioral problems, psychiatric symptoms, and even signs of dementia [14].

Additional Symptoms

  • Movement difficulties
  • Abnormal body and muscle tone
  • Trouble with speech
  • Delayed motor skills development
  • Progressive neurological deterioration
  • Loss of ability to walk

Diagnostic Tests

Leukoencephalopathy with vanishing white matter (VWM) is a rare genetic disorder that affects the central nervous system's white matter. Diagnostic tests for VWM typically involve a combination of clinical evaluation, imaging studies, and genetic testing.

Imaging Studies

MRI (Magnetic Resonance Imaging) is a crucial diagnostic tool for VWM. It can reveal characteristic changes in the brain's white matter, such as:

  • Symmetric periventricular white matter lesions [5]
  • Cortical atrophy, often with a tigroid or "soap bubble" appearance [5]

MRI findings are often diagnostic in the classic early childhood form of VWM [7]. However, imaging studies may not always be conclusive, and genetic testing is usually necessary to confirm the diagnosis.

Genetic Testing

DNA testing can help identify mutations in the EIF2B genes, which are associated with VWM. Genetic testing can also rule out other conditions that may present similarly to VWM.

Clinical Evaluation

A thorough clinical evaluation by a neurologist or geneticist is essential for diagnosing VWM. This involves:

  • A detailed medical history and physical examination [6]
  • Review of imaging studies and genetic test results

The diagnostic features of VWM include:

  • Progressive neurological deterioration
  • Seizures, spasticity, and other motor symptoms
  • Cognitive decline and behavioral changes [6]

In summary, the diagnosis of leukoencephalopathy with vanishing white matter (VWM) typically involves a combination of imaging studies, genetic testing, and clinical evaluation. MRI findings are often diagnostic in the classic early childhood form, but genetic testing is usually necessary to confirm the diagnosis.

References:

[1] May 1, 2013 — This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the ... [2] VWM disease is diagnosed based on symptoms present along with results of an MRI of the brain. DNA testing is also done to confirm diagnosis. What are the ... [3] by S Parikh · 2015 · Cited by 217 — Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). [4] by LL Resende · 2019 · Cited by 77 — The authors present a step-by-step approach to evaluate MRI findings in adult patients suspected of having leukodystrophy. [5] by DS Lynch · 2019 · Cited by 120 — Nerve conduction studies show marked slowing. Brain MRI reveals symmetric periventricular white matter lesions and cortical atrophy, often with a tigroid or ... [6] Aug 28, 2020 — Clinical history and examination that describes the diagnostic features of the impairment; · Imaging studies; and · Genetic testing revealing a ... [7] by M Bugiani · 2010 · Cited by 201 — The clinical diagnosis of VWM is strongly suggested by magnetic resonance imaging (MRI), which is diagnostic in the classic early childhood form (Figs. 1, A-C). [8] by M Gui · 2024 · Cited by 1 — Comprehensive screening for endocrine, metabolic, tumor, and immunologic disorders yielded normal or negative results. Brain imaging revealed ... [9] Dr. van der Knaap used MRI as well as magnetic-resonance spectroscopy and determined that ongoing cystic degeneration of the cerebral white matter and matter ...

Additional Diagnostic Tests

  • Clinical evaluation
  • Genetic testing
  • Imaging studies
  • DNA testing
  • MRI

Treatment

Current Status of Drug Treatment for Leukoencephalopathy with Vanishing White Matter

Unfortunately, there is no effective treatment available for leukoencephalopathy with vanishing white matter (VWM). According to recent studies [8], the disorder is currently untreatable. However, researchers have reported a mouse model that can serve as a test bed for different therapeutics, which may potentially lead to future treatments.

Precautions and Management

While there are no specific treatments available, taking certain precautions can help manage the symptoms of VWM [10]. These include:

  • Reducing trauma to the head
  • Avoiding physiological stress

It is essential to note that these precautions are not a treatment for the disorder but rather a way to alleviate some of its symptoms.

Future Research Directions

The development of a mouse model for VWM has opened up new avenues for research into potential treatments [8]. This may lead to the discovery of novel therapeutic approaches in the future.

Recommended Medications

  • No effective treatment available
  • Reducing trauma to the head
  • Avoiding physiological stress

💊 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

Differential Diagnosis of Leukoencephalopathy with Vanishing White Matter

Leukoencephalopathy with vanishing white matter (VWM) is a progressive disorder that mainly affects the brain and spinal cord. When considering the differential diagnosis for VWM, several conditions should be taken into account.

  • Mitochondrial leukoencephalopathies: These are a group of rare disorders caused by mutations in mitochondrial DNA. They can present with similar symptoms to VWM, including progressive neurological decline and white matter changes on MRI [7].
  • Alexander's disease: This is another early-onset leukodystrophy that can be distinguished from VWM based on its characteristic MRI pattern and clinical presentation [8]. Alexander's disease typically presents with megalencephaly (enlarged brain) and a more rapid progression of symptoms.
  • Other inherited white matter disorders: These include conditions such as Pelizaeus-Merzbacher disease, which is caused by mutations in the gene encoding for the proteolipid protein. This condition can present with similar white matter changes on MRI but typically has a different clinical presentation [9].

It's essential to consider these differential diagnoses when evaluating patients suspected of having VWM, as accurate diagnosis and treatment planning rely on distinguishing between these conditions.

References: [7] by M Gui · 2024 · Cited by 1 — The differential diagnosis for leukoencephalopathy is extensive, encompassing conditions such as mitochondrial leukoencephalopathies... [8] The differential diagnosis, which is primarily based on the MRI pattern, must consider the spectrum of early onset leukodystrophy, including Alexander's disease... [9] by DS Lynch · 2019 · Cited by 120 — A recommended algorithm for the evaluation of adults with suspected inherited white matter disorders...

Additional Differential Diagnoses

Additional Information

oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0070373
core#notation
DOID:0070373
oboInOwl#hasDbXref
MIM:620312
core#exactMatch
MIM:620312
IAO_0000115
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24.
rdf-schema#label
leukoencephalopathy with vanishing white matter 2
rdf-schema#subClassOf
http://purl.obolibrary.org/obo/DOID_0060868
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_2245
owl#annotatedSource
t349603

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.