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Marinesco-Sjogren syndrome
Description
Marinesco-Sjögren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body [2]. It is characterized by cerebellar ataxia, which refers to balance and coordination problems, intellectual disability, congenital cataracts in early childhood, muscle weakness, and other systemic features [4].
The cardinal findings of MSS include:
- Cerebellar ataxia: This is a progressive condition that affects the coordination and balance of individuals with MSS [3][6].
- Intellectual disability: People with MSS often experience intellectual disability, which can range from mild to severe [5].
- Congenital cataracts: Clouding of the lens of the eyes (cataracts) usually develops soon after birth or in early childhood [8].
- Muscle weakness: Progressive muscle weakness is another characteristic feature of MSS [9].
MSS is an autosomal recessive condition, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the disorder [5][7]. The syndrome has marked phenotypic variability, which means that the severity and presentation of symptoms can vary widely among affected individuals [7].
Overall, Marinesco-Sjögren syndrome is a complex and rare genetic disorder with multiple systemic features.
Additional Characteristics
- Intellectual disability
- Muscle weakness
- Cerebellar ataxia
- Congenital cataracts
Signs and Symptoms
Marinesco-Sjögren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body, leading to various signs and symptoms.
Primary Symptoms:
- Cerebellar ataxia: Difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum [7].
- Early-onset cataracts: Clouding of the lenses in the eyes, which can lead to vision problems [7].
- Mild to severe mental retardation: Individuals with MSS often have intellectual disability, ranging from mild to moderate [2].
Additional Symptoms:
- Cerebellar atrophy: Degeneration of the cerebellum, leading to ataxia and other motor coordination issues [4][8].
- Dysarthria: Difficulty speaking due to muscle weakness or paralysis in the face and tongue muscles [9].
- Nystagmus: Abnormal eye movements, which can be a sign of cerebellar dysfunction [9].
- Myopathy: Muscle weakness or wasting, particularly affecting the skeletal muscles [3][5].
- Skeletal malformations: Individuals with MSS may have abnormalities in their bones and joints, leading to short stature and developmental delays [5].
Other Features:
- Short stature: Many individuals with MSS are shorter than average due to skeletal malformations and muscle weakness [2][5].
- Developmental delays: Children with MSS may experience delayed development of motor skills, speech, and cognitive abilities [5].
These symptoms can vary in severity and presentation among individuals with Marinesco-Sjögren syndrome.
Additional Symptoms
- Cerebellar atrophy
- Developmental delays
- Skeletal malformations
- Early-onset cataracts
- Myopathy
- Mild to severe mental retardation
- ataxia
- nystagmus
- dysarthria
- short stature
Diagnostic Tests
Marinesco-Sjögren syndrome (MSS) can be diagnosed through a combination of clinical evaluation, imaging studies, and molecular genetic testing.
Clinical Evaluation The diagnosis of MSS is primarily based on the presence of a triad of symptoms: bilateral cataracts, progressive cerebellar ataxia, and mental retardation [6]. A thorough medical history and physical examination are essential to identify these characteristic features.
Imaging Studies Neuroradiologic findings can also support the diagnosis of MSS. Plain skull radiographs, CT, and MR images may show specific abnormalities, such as cerebellar atrophy and cataracts [8].
Molecular Genetic Testing Molecular genetic testing is available to identify mutations in the SIL1 gene, which is associated with MSS [1]. This testing can be performed on a clinical basis for individuals suspected of having the condition.
Exome-Based NextGen Sequencing A favored testing approach for MSS is exome-based NextGen sequencing with CNV analysis [5]. This method allows for cost-effective reflexing to PGxome or other exome-based sequencing platforms, increasing the chances of detecting pathogenic variants in the SIL1 gene.
In summary, the diagnostic tests for Marinesco-Sjögren syndrome include:
- Clinical evaluation to identify the characteristic triad of symptoms
- Imaging studies (plain skull radiographs, CT, and MR images) to support the diagnosis
- Molecular genetic testing to identify mutations in the SIL1 gene
References: [1] Context 1: Molecular genetic testing is available on a clinical basis. [5] Context 5: Our favored testing approach is exome-based NextGen sequencing with CNV analysis. [6] Context 6: Diagnosis relies primarily on the triad of bilateral cataracts, progressive cerebellar ataxia, and mental retardation. [8] Context 8: PURPOSE: Our purpose was to determine the neuroradiologic findings of Marinesco-Sjögren syndrome.
Additional Diagnostic Tests
- Clinical evaluation
- Imaging studies (plain skull radiographs, CT, and MR images)
- Molecular genetic testing to identify mutations in the SIL1 gene
Treatment
Current Drug Treatments for Marinesco-Sjögren Syndrome
Marinesco-Sjögren syndrome, a rare multisystem disorder, has limited treatment options available. While there is no specific drug treatment for the condition, research and studies have explored various medications to manage its symptoms.
- Symptomatic Treatment: The primary approach to treating Marinesco-Sjögren syndrome is symptomatic treatment, focusing on alleviating specific symptoms as they arise (1). This may involve surgical removal of cataracts to preserve vision or hormonal replacement therapy for hypogonadism.
- Trazodone and Dibenzoylmethane: A study in 2024 investigated the potential neuroprotective effects of trazodone and dibenzoylmethane, which partially inhibit PERK signaling (3). However, these compounds did not prevent motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome.
- Tauroursodeoxycholic Acid: Another study in 2024 also found that tauroursodeoxycholic acid had no effect on preventing motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome (8).
Current Research and Future Directions
While these studies have provided some insights into potential treatments, more research is needed to develop effective drug therapies for Marinesco-Sjögren syndrome. The condition's complex nature and variability in symptoms make it challenging to find a single treatment approach.
References:
[1] - Context 6 [3] - Context 3 [8] - Context 8
💊 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
Marinesco-Sjögren syndrome (MSS) is a rare genetic disorder characterized by cerebellar ataxia, dysarthria, nystagmus, and early-onset cataracts. The differential diagnosis of MSS involves considering other conditions that may present with similar symptoms.
Conditions to Consider:
- Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN): This condition is characterized by congenital cataracts, facial dysmorphia, and neuropathy, which can be similar to the physical abnormalities seen in MSS.
- Marinesco-Sjögren like syndrome with chylomicronemia: This rare genetic disorder presents with similar symptoms to MSS, including cerebellar ataxia and early-onset cataracts.
- Ataxia with isolated vitamin E deficiency: Two brothers with MSS were found to have vitamin E deficiency, highlighting the importance of considering this condition in the differential diagnosis.
Key Features to Consider:
- Bilateral cataracts
- Progressive cerebellar ataxia
- Mental retardation
- Muscle weakness (myopathy)
- Difficulty coordinating movements (ataxia)
Diagnostic Approach:
The diagnosis of MSS relies primarily on the triad of bilateral cataracts, progressive cerebellar ataxia, and mental retardation. A comprehensive evaluation of clinical, neuroimaging, and muscle biopsy data combined with molecular genetic testing is essential for accurate diagnosis.
References:
- [1] Oct 3, 2024 — Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not ...
- [5] The diagnosis is usually based on evaluation of clinical, neuroimaging, and muscle biopsy data combined with molecular genetic testing.
- [7] Differential diagnosis DDx includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco–Sjögren like syndrome with chylomicronemia, ...
- [8] by A Slavotinek · 2005 · Cited by 24 — Finally, the differential diagnosis of MSS also includes ataxia with isolated vitamin E deficiency.
Additional Differential Diagnoses
- cerebellar ataxia, mental retardation and dysequlibrium syndrome
- Vici syndrome
- neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
- cerebrotendinous xanthomatosis
- Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN)
- MarinescoâSjögren like syndrome with chylomicronemia
- Ataxia with isolated vitamin E deficiency
Additional Information
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