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Related Experiment Video

Updated: Sep 23, 2025

Substernal Thyroid Biopsy Using Endobronchial Ultrasound-guided Transbronchial Needle Aspiration

Substernal Thyroid Biopsy Using Endobronchial Ultrasound-guided Transbronchial Needle Aspiration

Published on: November 10, 2014

A case of brain-lung-thyroid syndrome.

Rong Liang¹, Shuang Ou², Ying Ding³

¹Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008. 935617282@qq.com.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences

|May 11, 2022

Summary

This study reports a rare case of Brain-Lung-Thyroid Syndrome in China, caused by a novel NKX2-1 gene mutation. Treatment improved symptoms, but respiratory infections persist, highlighting ongoing challenges.

Keywords:

NKX2-1 gene brain-lung-thyroid sydrome hypothyroidism psychomotor retardation recurrent cough

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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.