Abstract
Pituitary 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.
Keywords
pituitary stalk transection syndrome - pituitary stalk interruption syndrome - growth
retardation
