title: A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.
abstract: 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 51 days 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.
authors.affiliation: Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan. okumura@juntendo.ac.jp
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.forename: Tsubasa
authors.initials: T
authors.lastname: Lee
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Ikeno
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Kazunori
authors.initials: K
authors.lastname: Kajino
authors.forename: Yuka
authors.initials: Y
authors.lastname: Inoue
authors.forename: Naomi
authors.initials: N
authors.lastname: Yoshikawa
authors.forename: Hiroki
authors.initials: H
authors.lastname: Suganuma
authors.forename: Mitsuyoshi
authors.initials: M
authors.lastname: Suzuki
authors.forename: Ken
authors.initials: K
authors.lastname: Hisata
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Shoji
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Takanashi
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shimizu
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Masaharu
authors.initials: M
authors.lastname: Hayashi
mesh_terms: D001933:Brain Stem / Q000002:abnormalities*; D002528:Cerebellar Neoplasms / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008527:Medulloblastoma / Q000150:complications / Q000473:pathology*; D054000:Nevus, Sebaceous of Jadassohn / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis / Q000473:pathology*