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A case of pituitary stalk interruption syndrome with intermittent seizures as the first presentation
Juan Li1, Hongwei Jia1, Anindita Chakraborty1
1Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.
Insights
Pituitary stalk interruption syndrome (PSIS) can cause seizures and hyponatremia. Hormone replacement therapy normalized sodium levels and stopped seizures in a GHD patient.
Area of Science:
- Pediatric Endocrinology
- Neuroendocrinology
- Congenital Disorders
Background:
- Pituitary stalk interruption syndrome (PSIS) is a congenital condition often causing growth hormone deficiency (GHD) or multiple pituitary hormone deficiencies (MPHD).
- Typical PSIS symptoms include growth retardation, hypoglycemia, and delayed puberty.
- Acute epileptic seizures with hyponatremia are rarely reported in PSIS cases.
Observation:
- An 18-year-old female presented with a 13-year history of intermittent seizures and documented hyponatremia.
- The patient exhibited short stature and lacked pubertal development.
- Magnetic Resonance Imaging (MRI) revealed an ectopic posterior pituitary with an absent anterior pituitary and stalk.
Findings:
- Laboratory tests confirmed GHD, secondary adrenal insufficiency, hypothyroidism, and hypogonadotropic hypogonadism.
- Hyponatremia, with levels as low as 99.9 mmol/L, was a persistent finding.
- Hormone replacement therapy successfully normalized serum sodium levels and resolved seizure activity.
Implications:
- This case highlights the potential link between PSIS, seizures, and hyponatremia.
- Early diagnosis and appropriate hormone replacement therapy are crucial for managing PSIS complications.
- Further research is warranted to understand the pathophysiology connecting PSIS, hyponatremia, and seizures.
Abstract:
Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD). The typical clinical manifestations of PSIS are growth retardation, hypoglycemia or delayed pubertal development. However, few reports showed cases of PSIS were diagnosed with acute epileptic seizures accompanied by hyponatremia. Here, we report an 18-year-old female presenting with episodes of intermittent seizures for 13 years. The electrolyte examination on many occasions has shown hyponatremia, even as low as 99.9 mmol/L. However, the cause of hyponatremia has not been further discussed. The patient had short stature and no pubertal development. The 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. The hormone replacement therapy helped to raise the sodium concentration to a normal level and in the termination of seizures.
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