Horizontal gaze palsy with progressive scoliosis: a case report with magnetic resonance tractography and electrophysiological study

BMC Neurology
Chi-Wei LinMin-Chien Tu

Abstract

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive congenital anomaly characterized by horizontal gaze limitation and progressive scoliosis. We investigated the underlying pathogenesis by incorporating diffusion tensor imaging and an electrophysiological study. A 55-year-old female patient presented to our clinic due to a chronic history of eye movement limitation since childhood. Her eye problem was followed by a progressive scoliotic change in her torso during junior high school. Neurological examinations revealed remarkable conjugate horizontal but not vertical gaze palsy. Her pupils were isocoric, with a prompt response to light reflex and convergence. Her vision, including visual acuity and field, were normal. No pathological signs of muscle tone, muscle power, deep tendon reflex or coordination were revealed. There was no associated family history, and no diseases involving other systems were noted. On reviewing her past medical history, X-rays revealed scoliotic changes of her thoracic and lumbar spine. Brain magnetic resonance imaging showed a midline cleavage at the tegmentum (split pons sign) and butterfly configuration of the medulla, consistent with HGPPS. Color-coded diffusion te...Continue Reading

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Citations

Jun 26, 2020·International Journal of Environmental Research and Public Health·Elena Pinero-PintoMaría Carmen Sánchez-González
Nov 15, 2020·Clinical Imaging·Ahmed Abdel Khalek Abdel RazekEman Helmy
Jan 26, 2021·Frontiers in Behavioral Neuroscience·Kai CraenenMohammed Abderrafi Benotmane
Nov 3, 2020·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Bhanudeep SinganamallaLokesh Saini
May 6, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Filipp M FilippopulosChristian Vollmar

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