Pituitary Stalk Interruption Syndrome.pdf

An 18-year-old female presented with intermittent seizures for 13 years, accompanied by severe hyponatremia. She had short stature, no pubertal development, and intellectual delay. Laboratory tests revealed growth hormone deficiency, secondary adrenal insufficiency, hypothyroidism, and hypogonadotropic hypogonadism. MRI showed an ectopic hyperintense signal of the posterior pituitary and no visible anterior pituitary gland or stalk, consistent with pituitary stalk interruption syndrome (PSIS). Hormone replacement therapy helped raise sodium levels to normal and terminated seizures. The patient's condition improved after treatment, but diagnosis was delayed by 13 years, highlighting the need for early recognition and management of PSIS. Key features of the case include:

Intermittent seizures and severe hyponatremia as initial presentation
Growth hormone deficiency, secondary adrenal insufficiency, hypothyroidism, and hypogonadotropic hypogonadism
MRI findings consistent with PSIS
Delayed diagnosis and treatment
* Improvement with hormone replacement therapy.