AbstractPituitary stalk interruption syndrome is a congenital anomaly characterized by interrupted or thin pituitary stalk, hypoplastic or absent anterior pituitary, and an absent or ectopic posterior pituitary gland. The exact incidence rate of this syndrome is not known. However, the estimated incidence rate is 0.5/1,000,000 births. In this case report, we wanted to present a case of interrupted pituitary stalk syndrome, which presented with seizures and thyroid hormone deficiency. A 5-year-old female patient was admitted to our emergency department with vomiting, fever, and seizures with new onset. She had a twin who was ex-utero intrapartum in taken history. She was diagnosed with hypothyroidism and started on levothyroxine. Her height was in 25 to 50th percentile and her weight was in 10 to 25th percentile. She had mild mental retardation. On contrast-enhanced cranial magnetic resonance imaging scan, the pituitary stalk was absent, posterior pituitary was ectopic, and anterior pituitary was hypoplastic. The patient was diagnosed with interrupted pituitary stalk syndrome. After the symptoms were relieved, patient started on carbamazepine for epileptic seizures and hormone replacement therapy with levothyroxine and hydrocortisone. She was routinely followed up after the proper diagnosis. Leuprolide (gonadotropin-releasing hormone) and Norditropin (biosynthetic growth hormone) were added to medical therapy. Her height and weight were in 25th percentile after the long-term follow-up of approximately 10 years. On neurological examination, situation of mild mental retardation persisted. Pituitary stalk interruption syndrome is a very rare entity. However, radiologists should keep this syndrome in mind for patients who present with hypoglycemia, seizures, jaundice, cryptorchidism, and hypothyroidism in neonatal period and growth retardation with pituitary hormone deficiencies in childhood.
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