Diagnosis of Pituitary Stalk Interruption Syndrome in a Newborn Presenting With Recurrent Hypoglycemia: A Rare Case Report.
Albadr Fahad F, Alwahhabi Aljohara A AA, Alraeesi Noura N, Gamlo Hussain H et al.
Pituitary stalk interruption syndrome (PSIS) is a rare congenital anomaly associated with multiple pituitary hormone deficiencies. It is characterized by an absent or thin pituitary stalk, an ectopic posterior pituitary, and a hypoplastic anterior pituitary and is typically diagnosed via MRI. The syndrome presents variably depending on age, with neonatal cases often manifesting as recurrent hypoglycemia. Early diagnosis is critical to prevent severe complications. We report a case of a preterm male neonate born via emergency cesarean section due to non-reassuring cardiotocography and vaginal bleeding in the setting of breech presentation. The neonate developed recurrent hypoglycemia despite glucose therapy. Endocrine evaluations indicated hypopituitarism, with low cortisol, growth hormone, and adrenocorticotropic hormone (ACTH) levels. MRI confirmed PSIS with a hypoplastic anterior pituitary, absent pituitary stalk, and ectopic posterior pituitary. Hormonal replacement therapy with hydrocortisone, levothyroxine, and growth hormone led to clinical stabilization. PSIS should be considered in neonates with unexplained hypoglycemia. Early MRI evaluation and prompt hormonal replacement therapy are vital for preventing complications and improving outcomes. Increasing awareness among clinicians can enhance diagnostic accuracy and optimize patient care.