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MEDNIK syndrome
ICD-10 Codes
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Description
MEDNIK syndrome, also known as mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia, is a rare genetic disorder characterized by several severe symptoms.
Key Features:
- Intellectual Disability: Individuals with MEDNIK syndrome often experience impaired intellectual development, leading to intellectual disability [1][2].
- Enteropathy: The condition involves inflammation of the intestines, which can lead to digestive issues and malabsorption of nutrients [3].
- Deafness: Sensorineural hearing loss is a common symptom of MEDNIK syndrome, affecting an individual's ability to hear sounds [4].
- Peripheral Neuropathy: This condition affects the nerves outside the brain and spinal cord, leading to numbness, tingling, or pain in the extremities [5].
- Ichthyosis: A skin disorder characterized by dry, scaly, or thickened skin, often accompanied by keratodermia (a type of skin thickening) [6][7].
Additional Information:
MEDNIK syndrome 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 AP1S1 gene mutations are responsible for causing MEDNIK syndrome [8].
Additional Characteristics
- Ichthyosis
- Intellectual Disability
- Peripheral Neuropathy
- Enteropathy
- Deafness
Signs and Symptoms
MEDNIK syndrome, also known as mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome, is a rare genetic disorder characterized by a combination of severe multisystem symptoms. The signs and symptoms of MEDNIK syndrome include:
- Impaired intellectual development: Individuals with MEDNIK syndrome often experience significant delays in cognitive development, leading to intellectual disability [1][2].
- Enteropathy: This refers to a condition affecting the small intestine, which can lead to malabsorption of nutrients and other complications [3].
- Deafness: Sensorineural hearing loss is a common feature of MEDNIK syndrome, affecting an individual's ability to hear and communicate effectively [4][5].
- Peripheral neuropathy: This refers to damage or disease affecting the nerves outside the brain and spinal cord, leading to symptoms such as numbness, tingling, and weakness in the limbs [6][7].
- Ichthyosis: A condition characterized by dry, scaly skin that can be painful and itchy [8].
- Keratoderma: This refers to a thickening of the skin on the palms and soles, which can lead to discomfort and difficulty with mobility [9].
These symptoms often appear together in individuals with MEDNIK syndrome, although their severity and progression may vary from person to person.
Additional Symptoms
- Ichthyosis
- Peripheral neuropathy
- Impaired intellectual development
- Enteropathy
- Keratoderma
- deafness
Diagnostic Tests
MEDNIK syndrome, also known as Erythrokeratodermia Variabilis type 3 (EKV3), is a rare disorder characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, and other systemic features.
Diagnostic Tests:
- Laboratory testing can help confirm the diagnosis of MEDNIK syndrome. This may include:
- Intermittent elevation of transaminases [6]
- Elevated total bile acids
- Reduced serum copper and ceruloplasmin
- Increased serum free fatty acids
- Abnormal amino acid profiles in blood [5]
- Molecular diagnosis of MEDNIK syndrome can be performed through genetic testing, specifically for the AP1S1 gene. This type of testing is recommended to identify a potential genetic basis for the condition and inform prognosis [9].
- Diagnostic tests may also include:
- Blood cell count
- Amino acid profiles in blood
- Essential fatty acid levels
- Zinc, homocysteine, folic acid, and vitamin B12 levels
It's essential to consult with a healthcare professional or a genetic counselor for accurate diagnosis and guidance on the most suitable diagnostic tests.
References: [5] Further studies in blood (e.g. cell count, amino acids, essential fatty acid, zinc, homocysteine, folic acid and vitamin B12) and urine ... [6] Laboratory testing showed intermittent elevation of transaminases, elevated total bile acids, reduced serum copper and ceruloplasmin, increased serum free ... [9] AP1S1. Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and ...
Additional Diagnostic Tests
- Blood cell count
- Laboratory testing
- Molecular diagnosis through genetic testing (AP1S1 gene)
- Amino acid profiles in blood
- Essential fatty acid levels
- Zinc, homocysteine, folic acid, and vitamin B12 levels
Treatment
MEDNIK syndrome, also known as Erythrokeratodermia Variabilis type 3 (EKV3), is a rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, and peripheral neuropathy.
Treatment Options
According to the search results, zinc acetate therapy has been suggested as a treatment option for MEDNIK syndrome. This therapy has been shown to improve clinical conditions, reduce liver copper overload, and decrease serum free copper levels [1][2].
- Zinc acetate treatment can help alleviate symptoms such as intellectual deficit, enteropathy, sensorineural hearing loss, and peripheral neuropathy.
- The therapy involves administering 50 mg/day of zinc acetate orally.
Effectiveness
Studies have demonstrated the effectiveness of zinc acetate therapy in treating MEDNIK syndrome. For example, a study published in Brain found that zinc acetate treatment strikingly improved clinical conditions, as well as liver copper and bile-acid overload [1].
- Zinc acetate therapy can lead to decreased serum free copper levels, transaminases, and total bile acids.
- The treatment also results in increased blood ceruloplasmin levels.
Current Status
As of 2024, zinc acetate therapy is considered a viable treatment option for MEDNIK syndrome. In fact, liver copper overload can now be listed as a copper metabolism defect in humans that is treatable by zinc acetate therapy [7].
References:
[1] D Martinelli (2013) - Zinc acetate treatment strikingly improved clinical conditions, as well as liver copper and bile-acid overload. [2] D Martinelli (2013) - Given the similarities to Wilson's disease, we attempted oral zinc acetate therapy (50 mg/day) to reduce liver copper overload. [7] Oct 22, 2024 - Liver copper overload is treatable by zinc acetate therapy, and can now be listed as a copper metabolism defect in humans.
Recommended Medications
- Zinc Acetate Therapy
💊 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
MEDNIK syndrome, also known as mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia syndrome, is a rare genetic disorder caused by mutations in the AP1S1 gene. When considering differential diagnoses for MEDNIK syndrome, several other conditions should be taken into account.
- Huppke-Brendel syndrome: This is another rare genetic disorder that presents with similar symptoms to MEDNIK syndrome, including intellectual disability, enteropathy, and ichthyosis [5][8].
- CCS chaperone deficiency: This condition also shares some similarities with MEDNIK syndrome, such as congenital cataracts, sensorineural deafness, and low serum copper and ceruloplasmin levels [7].
- Other copper metabolism disorders: Recent studies have identified a new copper metabolism disorder characterized by congenital cataracts, sensorineural deafness, and low serum copper and ceruloplasmin levels, which may also be considered in the differential diagnosis of MEDNIK syndrome [10].
It's essential to note that each of these conditions has distinct features and diagnostic criteria. A comprehensive evaluation, including genetic testing and clinical assessment, is necessary to accurately diagnose MEDNIK syndrome and rule out other potential causes.
References: [5] - Context result 5 [7] - Context result 7 [8] - Context result 8 [10] - Context result 10
Additional Differential Diagnoses
- CCS chaperone deficiency
- Other copper metabolism disorders
- N syndrome
Additional Information
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