Giant choroid plexus papilloma in Mulibrey nanism syndrome

Abstract

Mulibrey (muscle, liver, brain, eye) nanism (MUL) is an autosomal recessive disorder caused by mutations in the TRIM37 gene encoding a protein of unknown function. MUL is characterized by progressive growth failure of prenatal onset, tri- angular face with hydrocephaloid skull, general thinness and muscular hypotonicity, peculiar voice, venous congestion caused by pericardial constriction, and pigment dispersion and yellowish dots in ocular fundi. Many studies in MUL patients showed that MUL is associated with frequent malignant tumors, benign adenomas and vascular lesions. Generally, MUL patients are consid- ered neurologically normal. Up to today, several arachnoidal cysts have been demonstrated in MUL patients. A nodular lesion of the plexus choroideus has been detected only in one MUL patient. Thus, choroid plexus papilloma has never been demonstrated in MUL patients. Our patient is an unusual example of MUL with giant choroid plexus papilloma and the first case in literature.