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Griscelli syndrome type 1
ICD-10 Codes
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Description
Griscelli syndrome type 1 (GS1) is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin [5]. It involves severe problems with brain function in addition to the distinctive skin and hair coloring [2][9].
The symptoms of GS1 include:
- Pigmentary dilution of the skin and hair
- Silvery-gray sheen of the hair
- Hypopigmentation of the skin
- Severe problems with brain function, including neurological impairment
Griscelli syndrome type 1 is a rare condition, with a prevalence of less than 1 in 1 million [6]. It is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for their child to be affected.
References: [2] - Severe problems with brain function in addition to the distinctive skin and hair coloring. [5] - A rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair. [6] - Prevalence: <1 / 1 000 000. Inheritance: -. Age of onset: variable. [9] - Severe problems with brain function in addition to the distinctive skin and hair coloring.
Additional Characteristics
- Hypopigmentation of the skin
- Pigmentary dilution of the skin and hair
- Silvery-gray sheen of the hair
- Severe problems with brain function, including neurological impairment
Signs and Symptoms
Griscelli syndrome type 1 (GS1) is characterized by a combination of distinctive physical features and severe neurological problems.
Physical Features:
- Silvery-gray appearance of hair
- Hypopigmentation of the skin, resulting in patches of lighter skin tone
- Accumulation of melanosomes in melanocytes, which can lead to irregular pigmentation
Neurological Problems:
- Weak muscle tone (hypotonia) or paralysis
- Seizures
- Developmental delay or intellectual disability
- Changes in muscle tone or spasticity
- Hemiparesis (weakness on one side of the body)
- Peripheral facial palsy (weakness or paralysis of the face)
- Psychomotor retardation
Additional Symptoms:
- Recurrent tonsillitis (inflammation of the tonsils)
- Eye and vision abnormalities
These symptoms can be present at birth or develop in infancy, and are often associated with severe brain function issues. [1][2][3][4][5][6][7]
References: [1] - Delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities are common symptoms of Griscelli syndrome type 1. [2] - Silvery-gray appearance of hair and hypopigmentation of the skin are characteristic physical features of GS1. [3] - Accumulation of melanosomes in melanocytes can lead to irregular pigmentation. [4] - Neurological problems such as seizures, developmental delay, and muscle tone changes are often present at birth or develop in infancy. [5] - Hemiparesis, peripheral facial palsy, spasticity, and psychomotor retardation are also associated with GS1. [6] - Recurrent tonsillitis can be a symptom of Griscelli syndrome type 1. [7] - Eye and vision abnormalities may also occur in individuals with GS1.
Additional Symptoms
- Seizures
- Psychomotor retardation
- Developmental delay or intellectual disability
- Eye and vision abnormalities
- Silvery-gray appearance of hair
- Hypopigmentation of the skin, resulting in patches of lighter skin tone
- Accumulation of melanosomes in melanocytes, which can lead to irregular pigmentation
- Weak muscle tone (hypotonia) or paralysis
- Changes in muscle tone or spasticity
- Hemiparesis (weakness on one side of the body)
- Peripheral facial palsy (weakness or paralysis of the face)
- Recurrent tonsillitis (inflammation of the tonsils)
Diagnostic Tests
Diagnostic Tests for Griscelli Syndrome Type 1
Griscelli syndrome type 1 (GS1) is a rare genetic disorder that affects the brain and other parts of the body. Diagnosing GS1 can be challenging, but several diagnostic tests can help confirm the condition.
- Genetic testing: Genetic testing can identify mutations in the MYO5A gene, which causes GS1 [3]. This test involves analyzing DNA samples from blood or tissue.
- Chorionic villus sampling (CVS): CVS is a prenatal test that can detect genetic abnormalities, including those causing GS1 [2]. This test involves taking a sample of cells from the placenta during pregnancy.
- Molecular genetics tests: Molecular genetics tests can also identify mutations in the MYO5A gene, confirming a diagnosis of GS1 [4].
- Clinical evaluation: A thorough clinical evaluation by a geneticist or other specialist is essential to diagnose GS1. This involves assessing symptoms such as delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities [3].
It's worth noting that early diagnosis of GS1 is crucial for effective management and treatment planning. Geneticists, hematologists, dermatologists, neurologists, and other specialists are often involved in the care of individuals with GS1 [5].
Additional Diagnostic Tests
- Clinical evaluation
- Genetic testing
- Molecular genetics tests
- Chorionic villus sampling (CVS)
Treatment
Based on the provided context, it appears that there is limited information available on the specific treatment for Griscelli syndrome type 1.
However, according to search result [11], it is mentioned that "The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented."
Additionally, search result [13] states that "Please consult with a healthcare professional for medical advice and treatment." This suggests that Griscelli syndrome type 1 may require personalized medical attention.
Unfortunately, there seems to be no specific mention of drug treatments for Griscelli syndrome type 1 in the provided context. However, it is worth noting that search result [3] mentions the use of cyclosporine as an immunosuppressive agent in the treatment of a related condition.
It's also mentioned in search result [9] that a child was treated with dexamethasone, etoposide and cyclosporine for a different condition. However, this is not specifically related to Griscelli syndrome type 1.
Therefore, based on the available information, it seems that there is no specific drug treatment mentioned for Griscelli syndrome type 1. Consultation with a healthcare professional would be necessary for personalized medical advice and treatment.
References: [11] - The National Organization for Rare Disorders (NORD) does not endorse the information presented. [13] - Please consult with a healthcare professional for medical advice and treatment. [3] - Cyclosporine is used as an immunosuppressive agent in the treatment of a related condition. [9] - A child was treated with dexamethasone, etoposide and cyclosporine for a different condition.
Recommended Medications
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Differential Diagnosis
Differential Diagnosis of Griscelli Syndrome Type 1
Griscelli syndrome type 1 (GS1) is a rare genetic disorder characterized by pigment dilution and neurological sequelae. When considering the differential diagnosis for GS1, several conditions should be taken into account.
- Elejalde disease: This condition shares some similarities with GS1 and should be considered in the differential diagnosis.
- Chediak-Higashi syndrome (CHS): CHS is another rare genetic disorder that can present with similar symptoms to GS1, making it a potential differential diagnosis.
- Congenital or acquired conditions with hypopigmentation: These conditions can also be part of the differential diagnosis for GS1.
It's essential to consider these conditions when diagnosing Griscelli syndrome type 1, as they can present with similar symptoms and require different treatment approaches.
References:
- [1] Conditions with hypopigmentation are included in the differential diagnosis of GS type 1.
- [2] Elejalde disease is also part of the differential diagnosis for GS type 1.
- [3] Chediak-Higashi syndrome (CHS) shares similarities with GS1 and should be considered in the differential diagnosis.
Additional Differential Diagnoses
- Congenital or acquired conditions with hypopigmentation
- disease
- Chediak-Higashi syndrome
Additional Information
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- A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.
- oboInOwl#hasExactSynonym
- hypopigmentation-neurologic impairment syndrome
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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.