Unveiling Seow-Najjar Syndrome: Insights & Management

Seow-Najjar syndrome is a rare genetic disorder characterized by the absence or severe deficiency of the enzyme uridine diphosphate-glucuronosyltransferase, leading to the accumulation of unconjugated bilirubin in the blood.

This condition is significant due to its impact on liver function and the potential for severe neurological complications if not managed appropriately.

While Seow-Najjar syndrome is extremely rare, occurring in approximately 1 in every 2 million births, its effects on health can be profound if left untreated.

In the short term, untreated Seow-Najjar syndrome can result in jaundice, lethargy, and poor feeding in infants.

In the long term, the accumulation of unconjugated bilirubin can lead to irreversible neurological damage, including kernicterus, a condition characterized by severe brain dysfunction.

It is crucial to detect Seow-Najjar syndrome early through regular screenings, as the condition is often asymptomatic in its early stages, highlighting the importance of early intervention to prevent adverse health outcomes.

Causes of Seow-Najjar Syndrome

Primary Causes:

• Genetic Mutations: Inherited mutations in the UGT1A1 gene, responsible for encoding the bilirubin-conjugating enzyme, lead to the absence or dysfunction of this crucial enzyme, resulting in unconjugated hyperbilirubinemia.
• Enzyme Deficiency: Defects in the production or function of uridine diphosphate-glucuronosyltransferase impair the conjugation of bilirubin, leading to its accumulation in the bloodstream.
• Inherited Defects: Autosomal recessive inheritance of defective UGT1A1 alleles from both parents increases the risk of developing Seow-Najjar syndrome.
• Neonatal Factors: Prematurity, dehydration, or other neonatal conditions can exacerbate unconjugated hyperbilirubinemia in infants with underlying genetic predispositions.

Secondary Risk Factors

• Breastfeeding: Exclusive breastfeeding without adequate intake can contribute to prolonged jaundice in infants with Seow-Najjar syndrome.
• Medications: Certain drugs that compete with bilirubin for conjugation can exacerbate hyperbilirubinemia in individuals with enzyme deficiencies.
• Nutritional Deficiencies: Inadequate intake of nutrients essential for liver function can worsen the symptoms and progression of Seow-Najjar syndrome.

Symptoms of Seow-Najjar Syndrome

Early Symptoms

• Jaundice: Yellowing of the skin and eyes can be an early indicator of unconjugated hyperbilirubinemia, affecting the physical appearance and potentially causing discomfort.
• Lethargy: Infants with Seow-Najjar syndrome may exhibit increased sleepiness and decreased responsiveness, impacting their ability to engage in normal activities and interact with caregivers.

Advanced Symptoms

• Neurological Impairment: Severe unconjugated hyperbilirubinemia can lead to irreversible neurological damage, resulting in developmental delays, hearing loss, and movement disorders.
• Kernicterus: The accumulation of bilirubin in the brain can cause kernicterus, a life-threatening condition characterized by seizures, intellectual disabilities, and even death if left untreated.

Diagnosis of Seow-Najjar Syndrome

• Serum Bilirubin Levels: Elevated levels of unconjugated bilirubin in the blood indicate impaired conjugation, prompting further investigation for Seow-Najjar syndrome.
• Genetic Testing: Identifying mutations in the UGT1A1 gene confirms the genetic basis of Seow-Najjar syndrome and helps guide treatment strategies.
• Liver Function Tests: Assessing liver enzymes and function can help evaluate the extent of liver involvement and monitor disease progression.
• Brain Imaging: MRI or CT scans may be performed to assess for signs of kernicterus or other neurological complications associated with severe unconjugated hyperbilirubinemia.

Treatment Options for Seow-Najjar Syndrome

Medications: Phenobarbital is commonly prescribed to stimulate the production of uridine diphosphate-glucuronosyltransferase, facilitating the conjugation of bilirubin and reducing its accumulation.

Dietary Modifications: Limiting the intake of certain substances, such as alcohol and medications metabolized by the liver, can help alleviate the burden on the liver and improve overall liver function.

Physical Activity: Engaging in regular physical activity can promote overall health and well-being, supporting liver function and metabolic processes essential for managing Seow-Najjar syndrome.

Overall, early detection, genetic counseling, and prompt intervention are essential in managing Seow-Najjar syndrome and minimizing the risk of long-term complications associated with this rare but potentially devastating genetic disorder.