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A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.
MedLine Citation:
PMID:  22483529     Owner:  NLM     Status:  Publisher    
Here we report a boy with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. The patient had epidermal nevi and complicated brain malformations including macrocephaly with polymicrogyria, dysmorphic and enlarged midbrain tectum, enlarged cerebellar hemispheres with small and maloriented folia. The patient died after surgical resection of medulloblastoma which was newly recognized on MRI at 51days of age. Postmortem pathological examinations showed very unique and bizarre malformation of the midbrain and hindbrain. The cerebellar cortex exhibited a coarse, irregular and bumpy surface, blurred border between the Purkinje cell layer and internal granule cell layer, and many foci of heterotopia in the cerebellar white matter. The brainstem showed multiple anomalies, including enlargement of superior colliculi, hypoplasia of pyramidal tracts and dysplasia of inferior olivary nuclei. The unusual constellation of brain malformations of our patient will widen the spectrum of epidermal nevus syndrome.
Akihisa Okumura; Tsubasa Lee; Mitsuru Ikeno; Keiko Shimojima; Kazunori Kajino; Yuka Inoue; Naomi Yoshikawa; Hiroki Suganuma; Mitsuyoshi Suzuki; Ken Hisata; Hiromichi Shoji; Jun-Ichi Takanashi; A James Barkovich; Toshiaki Shimizu; Toshiyuki Yamamoto; Masaharu Hayashi
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-4-6
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  -     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-4-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012. Published by Elsevier B.V.
Department of Pediatrics, Juntendo University Faculty of Medicine, Japan.
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