Esophageal Atresia Concomitant with Congenital Hypothyroidism and Phenylketonuria in a Newborn

The incidence of esophageal atresia (EA) is 2-3 per 10,000 births. Congenital anomalies associated with EA have been reported to be between 50% and 70%'. The incidence of classic phenylketonuria is approximately 1 in 15,000 births. Disease frequency varies by population, Turkey having the highest incidence in the world with approximately 1 in 2,600 births. Newborn screening for congenital hypothyroidism (CH) is one of the major achievements of preventive medicine, as the condition occurs frequently (1/4,000 newborns) and results in brain damage if not detected and treated in the first few days of life. A newborn infant admitted with mouth secretion and diagnosed with EA with tracheoesophageal fistula concomitant with CH and phenylketonuria is reported here. To our knowledge, this is the first case of EA associated with CH and phenylketonuria in the literature A 5 day-old male newborn was referred to our hospital with complaints of difficulty in swallowing and increased oral secretion. The patient was born to a 32 year-old gravida 3 para 3 mother by Caesarean section at full term. The pregnancy was complication-free. His personal and family histories were unremarkable. His body weight was 2,800 g (3-10 percentile), height was 48 cm (3-10 percentile), and head circumference was 34 cm (10-25 percentile). On physical examination, his general status was moderate and vital findings were normal. The sclera and skin of the patient were icteric. He had spontaneous breathing, with increased oral secretion. All