CASE REPORT   

Journal of Radiological Review 2021 March;8(1):33-5

DOI: 10.23736/S2723-9284.21.00105-5

Copyright © 2021 EDIZIONI MINERVA MEDICA

lingua: Inglese

Pituitary stalk interruption syndrome: case report of a rare disease requiring prompt detection

Irene GRAZZINI ✉, Duccio VENEZIA

Section of Neuroradiology, Department of Radiology, Section of Neuroradiology, San Donato Hospital, Arezzo, Italy

Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality of the pituitary gland, which consists of the triad of thin or interrupted pituitary stalk, small or absent anterior pituitary gland, and an absent or ectopic posterior pituitary lobe. Clinical presentation depends on the age at the time of diagnosis and PSIS should always be suspected in children with delayed puberty, short stature, and/or anterior pituitary deficiency. Reported incidence of PSIS is increasing because of the growing use in clinical practice of Magnetic Resonance (MR) as a primary radiological modality in patients with hypopituitarism, and MR findings are pathognomonic of this disease. Neuroradiological investigations may also reveal other abnormalities, as PSIS can be associated with various extra-cerebral midline defects. Without early diagnosis and treatment, mortality and morbidity in these patients is high. On the other hand, early treatment of this rare disease can prevent complications and permanent short statue of the patients. In this paper, we presented a classic case of PSIS in an 11-year-old male, with emphasis to imaging findings and differential diagnosis of this rare syndrome, which requires prompt detection to gain the maximum therapeutic benefit.

KEY WORDS: Pituitary gland; Hypopituitarism; Magnetic resonance imaging