Seow–Najjar syndrome

Seow–Najjar Syndrome is a rare genetic disorder characterized by a combination of symptoms and signs that primarily affect the liver and neurological system. The syndrome is named after the researchers who first described it. This article provides a comprehensive overview of Seow–Najjar Syndrome, including its symptoms, causes, diagnosis, and treatment options.

Symptoms

Seow–Najjar Syndrome presents a complex array of symptoms, primarily impacting the liver and the nervous system. Key symptoms include:

• Jaundice: A yellowing of the skin and eyes due to elevated bilirubin levels in the blood.
• Neurological Impairments: These can range from mild cognitive difficulties to severe neurological problems, including seizures.
• Liver Dysfunction: Patients may experience issues related to liver function, including hepatomegaly (enlarged liver) and cirrhosis.

Causes

Seow–Najjar Syndrome is a genetic disorder. It is caused by mutations in specific genes responsible for liver function and neurological development. The exact genes involved may vary among individuals, making the syndrome's genetic basis complex and varied.

Diagnosis

Diagnosis of Seow–Najjar Syndrome involves a combination of clinical evaluation and genetic testing. Key diagnostic procedures include:

• Blood Tests: To check levels of bilirubin and other liver enzymes.
• Genetic Testing: To identify specific genetic mutations associated with the syndrome.
• Neurological Assessment: To evaluate the extent of neurological impairment.

Treatment

There is no cure for Seow–Najjar Syndrome, and treatment focuses on managing symptoms and improving quality of life. Treatment options may include:

• Medications: To manage symptoms such as seizures.
• Liver Transplant: In cases of severe liver dysfunction, a liver transplant may be considered.
• Supportive Therapies: Physical therapy, occupational therapy, and other supportive therapies can help manage neurological symptoms.

Prognosis

The prognosis for individuals with Seow–Najjar Syndrome varies depending on the severity of symptoms and the effectiveness of treatment strategies. Early diagnosis and comprehensive management can improve quality of life and outcomes for many patients.

See Also

• Genetic Disorders
• Liver Diseases
• Neurological Disorders