Dionisi–Vici–Sabetta–Gambarara syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome (DVSG syndrome) is a rare metabolic disorder characterized by a wide range of clinical manifestations, including severe intellectual disability, muscle weakness, growth retardation, and liver disease. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.

Symptoms and Signs

The clinical presentation of Dionisi-Vici-Sabetta-Gambarara syndrome can vary significantly among affected individuals. Common symptoms include:

• Intellectual disability
• Muscle weakness and hypotonia
• Growth retardation
• Liver disease, often presenting as hepatomegaly (enlarged liver) or cirrhosis
• Cataracts in some cases
• Cardiomyopathy (disease of the heart muscle)

Causes

Dionisi-Vici-Sabetta-Gambarara syndrome is caused by mutations in a gene that is yet to be fully identified. These genetic mutations lead to the disruption of normal metabolic processes, although the exact mechanism is not fully understood. The condition is inherited in an autosomal recessive pattern.

Diagnosis

Diagnosis of DVSG syndrome is based on a combination of clinical evaluation, family history, and genetic testing. Due to the rarity of the syndrome, it may be challenging to diagnose, and patients often undergo extensive testing to rule out other conditions. Metabolic testing and genetic testing are crucial for confirming the diagnosis.

Treatment

There is no cure for Dionisi-Vici-Sabetta-Gambarara syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Nutritional support to address growth retardation
• Physical therapy to improve muscle strength
• Management of liver disease, which may include medications to protect liver function and, in severe cases, liver transplantation
• Regular monitoring and treatment of heart conditions

Prognosis

The prognosis for individuals with Dionisi-Vici-Sabetta-Gambarara syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. Early diagnosis and intervention can improve the quality of life for some individuals, but the condition can significantly reduce life expectancy, especially in cases with severe liver or heart disease.

See Also

• Metabolic disorder
• Autosomal recessive inheritance
• Genetic testing
• Liver transplantation

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