Vol. 7, Issue 1, Part C (2025)

Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital abnormality of the hypothalamic-pituitary axis. It is characterized by triad of structural abnormalities in the hypothalamic-pituitary axis. The structural abnormalities include: i) Interruption of the Pituitary Stalk: Disruption or absence of the pituitary stalk, this leads to impaired transport of hormones. ii) Ectopic Posterior Pituitary: The posterior pituitary is abnormally positioned. iii) Hypoplasia or Aplasia of the Anterior Pituitary: The anterior pituitary gland is underdeveloped or absent, leading to varying degrees of hormone deficiencies. It happens due to mutations in genes like HESX1, PROP1, and POU1F1. The management includes lifelong hormone replacement therapy based on the deficient hormones. This case report outlines the clinical presentation, diagnosis and management of a 3- year-old male patient who was brought to the hospital with active seizure, generalized tonic-clonic type associated with up rolling of eyes, frothing, post ictal drowsiness, bladder incontinence and vomiting. The child was a known case of Pituitary Stalk Interruption Syndrome and was on Hormonal Replacement Therapy since last 2 years. A thorough clinical assessment, including neuroimaging, laboratory investigations and genetic testing with close monitoring and follow up helps to assess the patient’s response to therapy.

Categories: Endocrinology, Pediatrics, Pediatric Neurology