G180(P) Rare case of duplicate pituitary plus syndrome

Abstract

Duplication of the pituitary gland is a rare craniofacial developmental malformation of unknown cause. It often associated with a spectrum of defects. Through use of an illustrative case, we discuss some of the associations that can develop with this condition and examine the images available. In addition, we review the literature available on this unusual presentation. EH is a 9 year old girl with duplication of pituitary gland – plus syndrome confirmed by her postnatal MRI scan. She is also antenatally diagnosed as having pharyngeal cystic swelling. She has demonstrated a number of complications associated with this syndrome, including advanced skeletal maturation, scoliosis, cleft palate, hypoglossal cyst, thyroglossal cyst, choanal atresia, hypertelorism, encephalocele, developmental delays and precocious puberty. Although her initial pharyngeal teratoma was excised shortly after birth, there remained tissue in the base of the skull which has been monitored with regular tumour markers and MRI screening. At the age of 6, development of breast tissue was noted which has been treated with regular goserelin injections. Most recently, she presented with auditory hallucinations of a distressing nature, which no other reported cases have. She is considered to have (duplication of pituitary gland) DPG-plus syndrome. Due to the rarity of this condition; which is less than 40 cases since 1880, a limited amount of literature is available. We have reviewed the available research and summarised possible causes and some of the important associations with this presentation.