PMC6722186_01
Radiological images showing remarkable therapeutic response with cabergoline in young man with hydrocephalus and intracranial hypertension for giant prolactinoma as first clinical manifestation of multiple endocrine neoplasia type 1. (A) Magnetic resonance imaging (MRI) in T1 with gadolinium, sagittal section; (B) MRI in T1 with gadolinium, coronal section; (C) MRI in T2 with gadolinium, coronal section. Left images show the solid-cystic sellar and parasellar tumoral mass identified at diagnosis (7.5 x 4.4 x 3.6 cm), with invasion of cavernous sinus, midbrain and third ventricle, occluded foramen of Monro and moderate to severe supratentorial obstructive hydrocephalus; Central images obtained 2 months after the beginning of cabergoline shows significant reduction of the tumor. Right images, with 8 months of cabergoline reveal a notable tumoral shrinkage and necrosis of the tumor.
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The tumoral mass invaded the cavernous sinus bilaterally, insinuating to the midbrain posteriorly, compressing the third ventricle and the foramen of Monro superiorly, and causing moderate to severe supratentorial obstructive hydrocephalus (Figure 1). The tumor extended posteriorly to the pre-mesencephalic/pontine cistern in close contact with the third ventricle floor and there was moderate dilation of the supratentorial ventricular system, with resolution of hydrocephalus (Figure 1). It became predominantly cystic with areas of necrosis beyond complete resolution of the supratentorial ventricular system dilation and significant reduction of the intraventricular tumoral component (Figure 1).
Pathogenic germline MEN1 variant (c.654 + 1G > T, IVS3, g.3405G > T) identified in the present MEN1 case reported with hydrocephalus and intracranial hypertension for giant prolactinoma. The change in heterozygous of the nucleotide guanine for timine at the canonic region +1 of the intron 3 of the MEN1 gene (c.654 + 1G > T; HGMD: CS982266; dbSNP: rs794728622) results in a splicing donor variant (ref. seq: ENST00000312049; NM_130799).
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