Pituitary stalk interruption syndrome on MRI: Case report

Key clinical message: Pituitary stalk interruption syndrome (PSIS) is an antenatal anatomical defect characterized by pituitary insufficiency with symptomatology depending on associated hormonal deficits. Diagnosis is often delayed because many clinical findings. The gold standard for detection is pituitary MRI showing absence of pituitary stalk, anterior pituitary hypoplasia, and postpituitary ectopy. The treatment remains polyhormonal substitution.

Abstract: Pituitary stalk interruption syndrome (PSIS) is an antenatal anatomical defect. It is characterized by pituitary insufficiency with symptomatology depending on associated hormonal deficits. Diagnosis of PSIS is often delayed probably because of various clinical characteristics findings. Pituitary imaging abnormality is a specific indicator of hypopituitarism. The symptomatological triad associates a very thin or interrupted pituitary stalk, an ectopic or absent pituitary gland and hypoplasia of the anterior pituitary gland. The gold standard for detection is pituitary MRI. Some genetic factors are associated with the disease. The treatment remains polyhormonal substitution depending on the associated deficits. We reported the case of a 14-year-old child with growth retardation in whom the biological work-up and pituitary MRI concluded that the diagnosis was PSIS with growth hormone deficiency. The treatment implemented was a recombinant growth hormone treatment. The immediate outcome was marked by a regression of symptoms.