Summary about Disease
Bassen-Kornzweig syndrome, also known as abetalipoproteinemia, is a rare genetic disorder that interferes with the normal absorption of dietary fats and fat-soluble vitamins (A, D, E, and K). This malabsorption leads to various neurological, gastrointestinal, and ophthalmological problems. It is an autosomal recessive condition, meaning both parents must carry the defective gene for a child to inherit the disorder.
Symptoms
Symptoms typically appear in infancy or early childhood and can include:
Failure to thrive (poor weight gain and growth)
Chronic diarrhea and steatorrhea (fatty stools)
Progressive ataxia (loss of coordination)
Retinitis pigmentosa (progressive vision loss)
Acanthocytosis (abnormally shaped red blood cells)
Muscle weakness
Neuropathy (nerve damage)
Skeletal abnormalities (e.g., scoliosis)
Causes
Bassen-Kornzweig syndrome is caused by mutations in the MTTP gene. This gene provides instructions for making microsomal triglyceride transfer protein (MTP). MTP is essential for assembling lipoproteins, including chylomicrons and very-low-density lipoproteins (VLDL), which are needed to transport fats and fat-soluble vitamins from the intestine into the bloodstream. When the *MTTP* gene is mutated, MTP function is impaired, leading to fat malabsorption.
Medicine Used
There is no cure for Bassen-Kornzweig syndrome. Treatment focuses on managing symptoms and preventing complications through:
High doses of fat-soluble vitamins (A, D, E, and K), especially vitamin E.
A low-fat diet with medium-chain triglycerides (MCTs), which are absorbed more easily than long-chain fats.
Supportive therapies, such as physical therapy, occupational therapy, and speech therapy, to address neurological and developmental issues.
Is Communicable
No, Bassen-Kornzweig syndrome is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
Precautions mainly involve:
Strict adherence to the prescribed diet and vitamin supplementation regimen.
Regular monitoring by a physician and other specialists (e.g., neurologist, ophthalmologist, gastroenterologist).
Preventing falls and injuries due to ataxia and muscle weakness.
Protecting vision and managing eye health.
How long does an outbreak last?
Bassen-Kornzweig syndrome is not an infectious disease, so the concept of an "outbreak" does not apply. It is a chronic, lifelong condition.
How is it diagnosed?
Diagnosis is based on:
Clinical presentation (symptoms and physical examination)
Laboratory tests:
Low levels of cholesterol, triglycerides, and fat-soluble vitamins in the blood.
Acanthocytosis on blood smear.
Absent or very low levels of apolipoprotein B (apoB), a key component of lipoproteins.
Genetic testing to identify mutations in the MTTP gene can confirm the diagnosis.
Fat absorption studies.
Timeline of Symptoms
Infancy/Early Childhood: Failure to thrive, diarrhea, steatorrhea, developmental delays.
Childhood/Adolescence: Progressive ataxia, muscle weakness, retinitis pigmentosa, skeletal abnormalities.
Adulthood: Continued progression of neurological and ophthalmological symptoms, potential for complications such as neuropathy and heart problems.
Important Considerations
Early diagnosis and treatment are crucial to minimize the long-term complications of Bassen-Kornzweig syndrome.
Lifelong adherence to dietary and vitamin supplementation guidelines is essential.
Regular monitoring by a multidisciplinary team of healthcare professionals is necessary to manage symptoms and prevent complications.
Genetic counseling is recommended for families with a history of the disorder.
Vision loss is a major concern. Early treatment and careful monitoring can slow down the rate of vision loss.