Pituitary Stalk Interruption Syndrome in a Newborn with Encephalopathy: A Case Report

Mary   J.   Jose; Lara   M.   Leijser; Anvita      Pauranik; Harish      Amin

doi:10.2174/03666220303155523

Abstract

Background: Pituitary Stalk Interruption Syndrome is a rare midline brain anomaly involving the pituitary gland that leads to a variable degree of pituitary hypofunction with a classic neuroimaging finding of the ectopic posterior pituitary, thin or absent pituitary stalk, and anterior pituitary hypoplasia.

Case Presentation: We present the case of a term newborn who developed encephalopathy and respiratory distress during the neonatal period and was later diagnosed with Pituitary Stalk Interruption Syndrome.

Conclusion: Genetic defects have been identified in 5% of cases, and at times there are associated extra pituitary malformations. In spite of being a welldescribed syndrome, a detailed description of its neonatal presentation and course is lacking in the literature.

Keywords: Neonatal encephalopathy, Pituitary stalk interruption syndrome, Ectopic posterior pituitary gland, Combined pituitary hormone deficiency, Central hypothyroidism, Growth hormone deficiency

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