TY - JOUR
T1 - Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL)
T2 - Case report and literature review of low grade gliomas in ECCL
AU - Bieser, Sarah
AU - Reis, Martin
AU - Guzman, Miguel
AU - Gauvain, Karen
AU - Elbabaa, Samer
AU - Braddock, Stephen R.
AU - Abdel-Baki, Mohamed S.
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/4/1
Y1 - 2015/4/1
N2 - Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature. ECCL is usually classified by cutaneous lesions and non-progressive intracranial or spinal lipomas; however three cases of ECCL associated with low grade glioma (LGG) have been described. We report on the fourth case of LGG in a patient with ECCL; a grade II pilocytic astrocytoma with pilomyxoid features in a 3-month-old male, the youngest in literature.
AB - Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature. ECCL is usually classified by cutaneous lesions and non-progressive intracranial or spinal lipomas; however three cases of ECCL associated with low grade glioma (LGG) have been described. We report on the fourth case of LGG in a patient with ECCL; a grade II pilocytic astrocytoma with pilomyxoid features in a 3-month-old male, the youngest in literature.
KW - Encephalocraniocutaneous
KW - Glioma
KW - Lipomatosis
UR - http://www.scopus.com/inward/record.url?scp=84925758210&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37017
DO - 10.1002/ajmg.a.37017
M3 - Article
C2 - 25705862
AN - SCOPUS:84925758210
SN - 1552-4825
VL - 167
SP - 878
EP - 881
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -