Abstract


Background
X presented with central precocious puberty aged 6.8y. She therefore had cranial imaging and was found to have duplication of the pituitary gland (DPG). Subsequently we identified a further case, Y, who also had DPG, midline defects and a nasal dermoid, with severe learning difficulties and advanced puberty. This is a rare malformation with fewer than 40 cases described since 1880. [1].

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Background
X presented with central precocious puberty aged 6.8y. She therefore had cranial imaging and was found to have duplication of the pituitary gland (DPG). Subsequently we identified a further case, Y, who also had DPG, midline defects and a nasal dermoid, with severe learning difficulties and advanced puberty. This is a rare malformation with fewer than 40 cases described since 1880. [1].

Case Description
X presented with a pharyngeal teratoma, excised at 39 days of age. She was further noted to have a cleft palate and thyroglossal cyst. She had multiple additional primary teeth. Moderate learning difficulties were evident by 4y. Subsequently, she presented at age 6.8y with precocious puberty (B2 A1 P1). Bone age was 8.8y. Pituitary Function: FSH 1.6mIU/L, LH <0.2mIU/L, Oestradiol 50pmol/L, otherwise normal. An MRI scan revealed DPG and multiple midline cervical spine abnormalities.

Y presented at 1.8y with a nasal dermoid. He was further noted to have a lingual hamartoma and cleft palate. He went on to develop speech and language delay with social and communication difficulties and severe learning difficulties. MRI was performed at 10.9y because of advanced pubertal status and deteriorating behaviour, and showed complete DPG. There were also multiple midline cervical spine abnormalities. Limited pituitary testing was performed, and was normal (Prolactin 500mIU/L fT3 5.4 pmol/L (3.8-6.0) free thyroxine 15 pmol/L (8-21)).
Of note, a previous MRI in each case, had failed to include pituitary/hypothalamic sequences, and therefore the DPG was missed.

Discussion
The association of DPG with cleft palate, learning difficulties and benign nasopharyngeal tumours is recognised as DPG Plus Syndrome [1]. It is a very rare condition that is thought to occur during blastogenesis when a developmental anomaly ensues; several aetiologies have been suggested including teratogens, twinning, median cleft face syndrome or splitting of the notochord [1]. Although, rare, findings in our two cases were characteristic. Cranial imaging, including the pituitary and hypothalamus is diagnostic and should be performed in cases of benign nasopharyngeal tumours with cleft palate.

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