Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion

We describe the fourth case with a complete PROP1 deletion in homozygosis. The apparent location of the respective 5′ (within a highly repetitive region, rich in Alu sequences) and 3′ (within an Alu sequence) breakpoints, suggests that the deletion may have arisen through homologous recombination. The differentiation between PROP1 mutation associated pituitary enlargements from craniopharyngioma, pituitary adenoma, dys-germinoma, or Rathke's pouch cyst, is critical for the correct patient management. It is important to recognize that PROP1 mutations can present associated with evolving pituitary masses and/or other MRI alterations of the pituitary during early childhood and that surgery is not indicated in these patients. Therefore, in the presence of combined pituitary hormone deficiency and a pituitary or hypothalamic mass, PROP1 analysis should be considered before referring the patient to a neurosurgeon.