title: MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis.
abstract: We present the MR imaging findings of a girl with horizontal gaze palsy and progressive scoliosis (HGPPS). HGPPS is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. MR imaging depicted brain-stem hypoplasia with absence of the facial colliculi, presence of a deep midline pontine cleft (split pons sign), and a butterfly configuration of the medulla. These MR imaging features suggest the diagnosis of HGPPS and correlate with the clinical findings. We hypothesize that maldevelopment of dorsomedial brain-stem structures plays a crucial role in the pathogenesis of HGPPS.
authors.affiliation: Department of Pediatric Neuroradiology, G. Gaslini Children's Research Hospital, Genoa, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Martin
authors.initials: M
authors.lastname: Catala
authors.forename: Roberta
authors.initials: R
authors.lastname: Biancheri
authors.forename: Raffaella
authors.initials: R
authors.lastname: Di Comite
authors.forename: Paolo
authors.initials: P
authors.lastname: Tortori-Donati
mesh_terms: D000293:Adolescent; D001933:Brain Stem / Q000002:abnormalities* / Q000473:pathology*; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D015840:Oculomotor Nerve Diseases / Q000150:complications*; D012600:Scoliosis / Q000150:complications*