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Vici syndrome
ICD-10 Codes
Related ICD-10:
Description
Vici syndrome is a severe, recessively inherited congenital disorder characterized by several key features.
- Callosal agenesis: The corpus callosum, which connects the two hemispheres of the brain, fails to develop properly.
- Cataracts: Clouding of the lens in the eye that affects vision.
- Oculocutaneous hypopigmentation: A condition where there is a reduction or absence of melanin in the skin, hair, and eyes.
- Cardiomyopathy: A disease of the heart muscle that can lead to progressive heart failure.
- Combined immunodeficiency: A weakened immune system that makes it difficult for the body to fight off infections.
Additionally, individuals with Vici syndrome often experience:
- Profound developmental delay: Significant delays in physical and mental development.
- Progressive failure to thrive: Weight loss and a decline in overall health over time.
- Recurrent infections: Frequent infections affecting various parts of the body, such as the respiratory, gastrointestinal, and urinary tracts.
These symptoms can vary in severity and may evolve over time. Early diagnosis and treatment are crucial for managing the condition and improving quality of life [1][2][3][4].
References: [1] - Context 2 [2] - Context 8 [3] - Context 9 [4] - Context 5
Additional Characteristics
- Cardiomyopathy
- Cataracts
- Progressive failure to thrive
- Recurrent infections
- Oculocutaneous hypopigmentation
- Profound developmental delay
- Callosal agenesis
- Combined immunodeficiency
Signs and Symptoms
Principal Features of Vici Syndrome
Vici syndrome, a rare congenital multisystem disorder, presents with several key features, including:
- Agenesis of the corpus callosum (ACC) [1]
- Bilateral cataracts [4][6]
- Hypopigmentation of skin and hair [4][6]
Other Common Signs and Symptoms
In addition to these principal features, Vici syndrome is also characterized by: * Seizures [3][5] * Hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss) [3][5] * Delayed motor development [9] * Recurrent infections [9]
Less Common Signs and Symptoms
Some less common signs and symptoms associated with Vici syndrome include: * Cleft lip/palate [7] * Oculocutaneous hypopigmentation [6] * Absent corpus callosum [7]
These features can vary in severity and presentation, but they are all part of the complex clinical picture of Vici syndrome.
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9
Additional Symptoms
- Seizures
- Delayed motor development
- Recurrent infections
- palate
- Agenesis of the corpus callosum
- Bilateral cataracts
- Hypopigmentation of skin and hair
- Heading loss caused by abnormalities of the inner ear (sensorineural hearing loss)
- Oculocutaneous hypopigmentation
- Absent corpus callosum
Diagnostic Tests
Diagnostic Tests for Vici Syndrome
Vici syndrome, a rare genetic disorder, requires a comprehensive diagnostic approach to confirm its presence. The following tests are typically used to diagnose and monitor the condition:
- Genetic Testing: Confirmation of recessive EPG5 mutations is essential for diagnosing Vici syndrome [2][4]. This involves analyzing DNA samples from affected individuals or family members.
- Clinical Assessment: A thorough clinical evaluation, including a review of medical history, physical examination, and assessment of suggestive clinical features, is crucial in identifying the condition [3].
- Brain Magnetic Resonance (MR) Imaging: Brain imaging studies can help identify abnormalities associated with Vici syndrome, such as agenesis of the corpus callosum [6].
- Ophthalmology Assessment: A slit lamp examination and other ophthalmological tests may be performed to evaluate eye-related symptoms, including cataracts [6].
- Laboratory Investigation: Complete blood count (CBC), renal and liver function tests, serum lactate, pyruvate, ammonia, and extended metabolic panels can help identify associated laboratory abnormalities [7].
It's essential to note that a molecular diagnosis is required for Vici syndrome, and genetic testing should continue according to routine local practice for affected individuals [8].
Additional Diagnostic Tests
- Genetic Testing
- Clinical Assessment
- Brain Magnetic Resonance (MR) Imaging
- Ophthalmology Assessment
- Laboratory Investigation
Treatment
Based on the search results, it appears that there are some potential drug treatments being explored for Vici syndrome.
According to a study published in 2022, several compounds have been identified as enhancers of autophagy in primary fibroblasts from patients with Vici syndrome. These compounds include several FDA-approved drugs.
Additionally, another study mentions that researchers are working on finding potential drug treatments for Vici syndrome, and one of the aims is to identify small molecules that can enhance the defective autophagy in this condition.
However, it's essential to note that these findings are still in the early stages of research, and more studies are needed to confirm their efficacy and safety. Currently, there is no established treatment or cure for Vici syndrome.
If you're looking for a summary, here's a brief overview:
- Several compounds have been identified as potential enhancers of autophagy in Vici syndrome patients.
- Researchers are exploring small molecules that can enhance defective autophagy in this condition.
- No established treatment or cure exists for Vici syndrome yet.
Recommended Medications
- Several FDA-approved drugs
- autophagy inhibitor
💊 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 Diagnoses for Vici Syndrome
Vici syndrome, also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, has several differential diagnoses that need to be considered in the diagnostic process. These include:
- Marinesco-Sjogren syndrome: This is a rare genetic disorder characterized by short stature, cataracts, and other physical abnormalities [1][2].
- Chédiak-Higashi syndrome: A rare genetic disorder that affects the immune system and causes albinism, bleeding disorders, and other symptoms [3][4].
- Griscelli syndrome: Another rare genetic disorder that affects the immune system and causes albinism, immunodeficiency, and other symptoms [5][6].
- DiGeorge syndrome: A genetic disorder characterized by thymic hypoplasia, cleft palate, and other physical abnormalities [7][8].
These differential diagnoses are important to consider when diagnosing Vici syndrome, as they share some overlapping clinical features with the condition. However, it's worth noting that Vici syndrome is a distinct entity with its own set of cardinal features.
References:
[1] Context 1 [2] Context 4 [3] Context 3 [4] Context 7 [5] Context 5 [6] Context 8 [7] Context 9 [8] Context 6
Additional Differential Diagnoses
Additional Information
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- 2015-08-19T16:22:27Z
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- DOID:0060356
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- UMLS_CUI:C1855772
- IAO_0000115
- A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
- oboInOwl#hasExactSynonym
- immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
- oboInOwl#inSubset
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- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- relatedICD
- http://example.org/icd10/E75.01
- core#notation
- DOID:0060356
- rdf-schema#label
- Vici syndrome
- rdf-schema#subClassOf
- t341060
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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