ESPE Abstracts

Introduction: Brain-lung-thyroid syndrome (BATS) is a rare autosomal dominant inherited syndrome that develops due to mutations in the NKX2-1 gene, which is a thyroid transcription factor, and is characterized by respiratory distress in the neonatal period, congenital hypothyroidism, and choreatetosis. Approximately half of affected patients have the complete triad, with 30% affected by the neurological phenotype (motor developmental delay, gait difficulties, choreatetosis, hypotonicity, ataxia, dysarthria, dystonia, thirst, hunger, sleep problems) and hypothyroidism, while about 13% only have the neurological phenotype. In cases accompanying pulmonary dysfunction; neonatal respiratory distress, asthma, and frequent lung infections can be seen. Herein, a case with a heterozygous mutation in the NKX2-1 gene is presented with interesting family characteristics.

Case: A three-month-old girl who was diagnosed with congenital hypothyroidism at the age of one month and started treatment was referred to our clinic for follow-up. She was born at term, weighed 3300 grams and developed meconium aspiration in newborn period. In her family history, it was learned that there were neurodevelopmental retardation in her mother and choreiform movement disorder in her mother and grandfather. While receiving levothroxine treatment at admission; thyroid function tests were euthyroid, thyroid gland was in normal localization and thyroid volume was within normal limits on thyroid ultrasonography. In the first year of the follow-up, although drug compliance was sufficient and her course was euthyroidic, neuromotor growth retardation was noticed, and choreiform movements started at the age of two and a half years. Metabolic examinations, brain imaging, electroencephalogram, echocardiography and Array CGH analysis, performed to clarify to etiology, were normal. In whole exome sequencing analysis, c.703G>T mutation was found in exon 3 in the NKX2-1 gene in our case, her mother and grandfather.

Conclusion: NKX2-1 mutation should be considered in cases of congenital hypothyroidism accompanied by neurological and / or pulmonary findings or family history indicating that these systems are affected.