8/1/13
8/28/15
4/11/19
6/25/20
9/16/20
1/22/21
10 year old female (4/29/13) with intractable epilepsy and profound motor and cognitive handicap. Has had extensive and unrevealing laboratory investigations. Two brain biopsies performed. In 01/2021, she had a Stealth-guided stereotactic brain biopsy through a left frontal bur hole. The biopsy showed white matter tracts with scattered calcifications. The Ki-67 proliferative index was slightly elevated. "These findings are not conclusive and we cannot rule out the possibility of neoplastic process." She then had a repeat brain biopsy on 04/21/2021. There were dystrophic calcifications in the subcortical white matter and extensive reactive gliosis seen involving the basal ganglia. This was a biopsy of the left caudate. There was no evidence of a neoplastic process. The report indicates, "However, the findings on clinical examination and imaging studies are highly suggestive of an unusual neurocutaneous syndrome, particularly hypomelanosis of Ito." The patient does have cutaneous findings akin to those of hypomelanosis of Ito.
Any thoughts can be conveyed to gbreningstall@gillettechildrens.com.
Prior comments were accidentally deleted. Targeted genetic studies performed on tissue which had been obtained from the second brain biopsy showed an MTOR C1483F mutation. Activating mutations in MTOR lead to increased kinase activity of encoded proteins and hyperactivation of downstream pro survival signaling pathways in cancer. Germline and somatic pathogenic variants have been reported in overgrowth syndromes that can impact neurodevelopment.
ReplyDelete