Ventriculomegaly in NF1

An earlier post from the child-neuro list-serve with today's addition

 

The patient’s younger sister, who has Beckwith-Weidemann, as well as NF1, had an MRI done at 9 ½ years of age when growth hormone therapy was being considered which showed  that ventriculomegaly with some transependymal flow had emerged since an MRI 4 years earlier .   Low positioning of the cerebellar tonsils and an increased size of the supracerebellar cistern suggested a component of craniocervical junction outflow obstruction.  The patient was asymptomatic.   A repeat MRI done 3 ½  months later shows fundamental stability of findings.  Her older brother had a follow-up MRI in 9/14, the fifth since the discovery of his ventriculomegaly  3 ½ years ago,  which showed stable ventriculomegaly.

Unexplained emergence of ventriculomegaly in a NF1 patient 2014-07-03 12:13:00

An 11 ½ yo boy with NF1 (father and sister also have NF1) was found at 2 years of age to have optic pathway enlargement which was most pronounced in the chiasm, with slight extension into the optic tracts, right greater than left with abnormal enhancement, also eccentric to the right. 10 MRIs later, this has remained unchanged. There were multiple foci of T2/FLAIR increased signal within the deep cerebellar white matter, pons, midbrain, basal ganglia and thalami. At 9 years of age, surprisingly, there had emerged mild to moderate ventriculomegaly involving the lateral, right greater than left, and third ventricles compared to an MRI done 2 ½ years previously. There was no evident explanation for this. There was no intervention. 4 MRIs later, these findings have remained unchanged. The focus of attention on the most recent MRI was a focal area of increased T2/FLAIR signal in the left lateral margin of the third ventricle/hypothalamus measuring 7 x 8 x 9 mm, which had minimally changed in size and conspicuity for 4 MRIS.

He did well academically in 5th grade. He does receive intramuscular leuprolide acetate tor precocious puberty