title: Gómez-López-Hernández syndrome in a Japanese patient: a case report.
abstract: Gómez-López-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, and bilateral parieto-occipital alopecia. We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical craniofacial anomaly including hypertelorism, brachyturricephaly and midface retrusion, and a short stature. This female patient had also exhibited fever-induced convulsive seizures and psychomotor developmental delay since infancy. Brain magnetic resonance imaging showed severe rhombencephalosynapsis, supratentorial abnormalities (aplasia of the septum pellucidum, severe ventricular enlargement, and hypoplasia of the corpus callosum), and hippocampus atrophy. Bilateral ectopic cerebellums were also observed. This report describes the long-term clinical outcome of GLHS and a new neuroradiological finding regarding rhombencephalosynapsis.
authors.affiliation: Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan. Electronic address: u-kb@masa.go.jp.
authors.forename: Yu
authors.initials: Y
authors.lastname: Kobayashi
authors.affiliation: Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
authors.forename: Hideshi
authors.initials: H
authors.lastname: Kawashima
authors.affiliation: Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
authors.forename: Shinichi
authors.initials: S
authors.lastname: Magara
authors.affiliation: Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Akasaka
authors.affiliation: Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Tohyama
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D000505:Alopecia / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D012249:Rhombencephalon / Q000473:pathology / Q000503:physiopathology
keywords: Alopecia; Gómez–López-Hernández syndrome; Rhombencephalosynapsis; Trigeminal anesthesia