A case of brain-lung-thyroid syndrome

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Brain-Lung-Thyroid Syndrome (BLTS) is a rare autosomal dominant disorder.
• Fewer than 100 cases reported globally, with limited documentation in China.
• BLTS is characterized by neurological, respiratory, and thyroid abnormalities.

Observation:

• A 3-year-old Chinese boy presented with psychomotor retardation, chronic cough, and hypothyroidism.
• Clinical symptoms included neurological deficits, persistent respiratory issues, and hypothyroidism.
• Genetic analysis revealed a novel heterozygous c.927delC variation in the NKX2-1 gene.

Findings:

• The patient was diagnosed with BLTS based on clinical presentation and genetic findings.
• The identified NKX2-1 gene variation (c.927delC) appears to be a new mutation.
• Treatment with dopasehydrazine and levothyroxine improved motor function and normalized thyroid levels.

Implications:

• This case expands the known spectrum of NKX2-1 mutations associated with BLTS.
• Early diagnosis and symptomatic management can improve patient outcomes.
• Ongoing management is crucial to address persistent respiratory tract infections in BLTS patients.