The authors report a case of choroid plexus papilloma in a girl with hypomelanosis of Ito, and they review the literature in brief. Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by cutaneous hypopigmented whorls, streaks, and patches along lines of Blaschko. Most patients exhibit CNS manifestations, including psychomotor retardation, seizures, hypotonia, and ataxia. A 6-year-old girl with hypomelanosis of Ito was referred to the authors' hospital with bilateral tumors in the lateral ventricles. The right lateral ventricle tumor was surgically removed. Immunohistochemical investigations revealed the tumor to be a choroid plexus papilloma (WHO Grade I). A chromosomal investigation revealed that the tumor tissue demonstrated a large loss of heterozygosity at chromosome 10. The case reported here serves as a reminder that de novo brain tumors may arise in patients with chromosomal mosaicism.
Abbreviation used in this paper:HI = hypomelanosis of Ito.
Address correspondence to: Ryoma Morigaki, M.D., Department of Neurosurgery, Institute of Health Biosciences, University of Tokushima, 3-18-15 Kuramoto-Cho, Tokushima 770-8503, Japan. email: email@example.com.Please include this information when citing this paper: published online July 13, 2012; DOI: 10.3171/2012.5.PEDS11556.
HendriksYMVerhallenJTvan der SmagtJJKantSGHilhorstYHoefslootL: Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. Fam Cancer2:79–852003
HendriksYM, VerhallenJT, van der SmagtJJ, KantSG, HilhorstY, HoefslootL, : Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 2:79–85, 2003)| false
ZajacVKirchhoffTLevyERHorsleySWMillerASteichen-GersdorfE: Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. Eur J Hum Genet5:61–681997
ZajacV, KirchhoffT, LevyER, HorsleySW, MillerA, Steichen-GersdorfE, : Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. 5:61–68, 1997)| false