We present the mr imaging findings of a girl with horizontal gaze palsy and progressive scoliosis hgpps. Congenital bilateral horizontal gaze palsy in a brother. Horizontal gaze palsy and progressive scoliosis hgpps, omim 6073 is an autosomal recessive disorder characterized by congenital absence of horizontal eye movements, preservation of vertical gaze, and progressive scoliosis. Horizontal gaze palsy can result from either peripheral or central causes, most commonly ischaemia or demyelination. Horizontal gaze nystagmus, or hgn, is the involuntary jerking of ones eye when it gazes to the side, a characteristic that can be even more exaggerated by alcohol consumption which is why its often tested during a field sobriety test. Horizontal gaze palsy with progressive scoliois hgpps is a rare recessive congenital cranial dysinnervation disorder that has been reported in several dozen consanguineous families related by blood of greek 14, japanese 5,6, chinese 7,8, israeli 9, north american 1012, dutch, italian 14,15, german 1618, asian 19, saudi arabian 20, and indian 20 descent. The authors report the clinical manifestation of right. Brainstem pathways for horizontal eye movement rsna. Bilateral horizontal gaze palsy is a rare presentation caused by bilateral interruption of the median longitudinal fasciculus, abducens nucleus. Pdf horizontal gaze palsy with progressive scoliosis. Horizontal gaze palsy definition of horizontal gaze. Horizontal gaze palsy with progressive scoliosis hgpps is a rare congenital disorder caused by mutation in the robo3 gene. Most unilateral horizontal gaze palsies are produced.
Horizontal gaze palsy and progressive scoliosis hgpps was first identified in 5 children of 2 families by dretakis and kondoyannis in 1974. Horizontal gaze palsy and progressive scoliosis without robo3 mutations. Conjugate horizontal gaze is controlled by neural input from the cerebral hemispheres, cerebellum, vestibular nuclei, and neck. Pdf horizontal gaze palsy and progressive scoliosis. Congenital horizontal gaze palsy eccles health sciences. Complete bilateral horizontal gaze paralysis disclosing. Horizontal gaze palsy and progressive scoliosis with robo. A 36yearold woman who presented an horizontal left gaze palsy, bilateral nystagmus in extreme gaze and left peripheral facial palsy after dental anesthesia. Stroke is an important differential and should be considered early. Mr imaging of brainstem hypoplasia in horizontal gaze palsy with progressive scoliosis andrea rossi, martin catala, roberta biancheri, raffaella di comite, and paolo tortoridonati summary. Horizontal gaze palsy to the left slight head turn to the left conjugate deviation of her eyes to the right complete horizontal gaze palsy to the left saccadic and pursuit with inability to move her eyes past the midline. The authors examined 11 individuals with hgpps from five. Bilateral horizontal gaze palsies are rare, and we are aware of only 1 previously reported case that was.
Conjugate gaze palsy an overview sciencedirect topics. Juvenile progressive scoliosis and congenital horizontal gaze palsy. Horizontal gaze palsy with progressive scoliosis hgpps is a rare disorder that affects vision and also causes an abnormal curvature of the spine. Brainstem axon crossing defects in horizontal gaze palsy with progressive scoliosis assessed with diffusion tensor imaging and neurophysiological testing. The purpose of this study was to report on a rare case of bilateral horizontal gaze palsy from a supranuclear lesion in a patient with a recent diagnosis of multiple sclerosis. We present a patient with ipsilateral hemiparesis caused by putaminal hemorrhage who had a history of horizontal gaze paralysis and scoliosis since childhood. An uncommon case of horizontal gaze palsy with scoliosis. Parinauds syndrome is a cluster of abnormalities of eye movement and pupil dysfunction, characterized by. Horizontal gaze palsy following intraoral local anesthesia, a first. We report a case of lithiuminduced downbeat nystagmus and horizontal gaze palsy in a 62yearold woman who was treated for a bipolar affective disorder with lithium carbonate for one month. Video neurologic features of horizontal gaze palsy and.
We read with interest the article by mendes marques et al, describing 2 patients with the syndrome of horizontal gaze palsy with progressive scoliosis hgpps with mutations of the robo3 gene. Abnormalities horizontal clinical, oculographic and. Near reflex substitution for horizontal gaze palsy in a. Unilateral horizontal gaze palsy eccles health sciences. Horizontal gaze palsy with progressive scoliosis hgpps is a rare autosomal recessive congenital disorder characterized by the absence of horizontal gaze movements and progressive scoliosis. Central ocular motor disorders, including gaze palsy and. Horizontal gaze palsy with progressive scoliosis boston. Horizontal gaze palsy with progressive scoliosis hgpps is an autosomal recessive disorder caused by mutations in the robo3 gene, resulting in a critical absence of crossing fibers in the brainstem. Bilateral horizontal gaze palsy caused by a primary pontine. A 10yearold girl presented with abnormal eye movement since birth.
Lateral gaze palsy is caused by a lesion involving the paramedian pontine reticular formation pprf or the abdu cens nucleus. Mr imaging of brainstem hypoplasia in horizontal gaze. Complete bilateral horizontal gaze paralysis is a rare disorder which has been reported in bilateral pontine lesions due to infarction,1haemorrhage,2 3 or metastasis. Progressive myoclonic epilepsy and horizontal gaze palsy. An outstanding problem in human gaze palsies has been to locate in vivo the. Near reflex substituting for acquired horizontal gaze palsy.
It is an autosomal recessive disorder associated with biallelic mutation in the roundabout homolog of drosophila 3 robo 3 gene and causes a profound anatomical maldevelopment of the brainstem with uncrossing of the corticospinal and dorsal column. If you continue browsing the site, you agree to the use of cookies on this website. Simultaneous damage to the right mlf produces a paralysis of adduction of the right eye, while. Horizontal gaze palsies affect gaze of both eyes either toward or away from the midline of the body. As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. The most severe type, total pontine gaze palsy, is a bilateral horizontal gaze palsy in which visual fixation, the vestibulocephalic reflex and the oculocephalic reflex are absent because of. Lithiuminduced downbeat nystagmus and horizontal gaze palsy. Horizontal gaze requires the action of ipsilateral abd.
Ipsilateral stroke in a patient with horizontal gaze palsy. Learn more about hgn and other ways that sobriety is tested by law enforcement at findlaws section on sobriety tests. An even more fundamental distinction is between vertical and horizontal gaze palsies. In contrast, the terms partial or complete when applied to gaze palsy indicate whether some motion across midline in the paretic direction is present. Horizontal gaze palsy may be caused by lesions in the cerebral hemispheres, which cause paresis of gaze away from the side of the lesion, or from brain stem lesions, which, if they occur below the crossing of the fibers from the frontal eye fields in the caudal midbrain, will cause weakness of gaze toward the side of the lesion. Definition of horizontal gaze palsy in the medical dictionary by the free dictionary. Macdonald db, streletz lj, alzayed z, abdool s, stigsby b 2004 intraoperative neurophysiologic discovery of uncrossed sensory and motor pathways in a patient with horizontal gaze palsy and scoliosis. This article is published with open access at abstract an impairment of eye movements, or nystagmus, is seen in many diseases of the central. A palsy affecting all types of eye movements should be designated as nonselective gaze palsy. Introduction horizontal gaze palsy with progressive scoliosis hgpps is a known clinical entity, as a part of congenital cranial dysinnervation disorder syndrome ccdds.
Horizontal gaze palsy with progressive scoliosis hgpps. It is characterized by absent horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Ocular ductions showed complete horizontal gaze palsy, partial limitation of upgaze, and synergistic convergence figure, a. Near reflex substituting for acquired horizontal gaze.
Horizontal gaze palsy with progressive scoliosis hgpps is a disorder that affects vision and also causes an abnormal curvature of the spine scoliosis. This vertical palsy is supranuclear, so dolls head maneuver should elevate the eyes, but eventually all upward gaze mechanisms fail. Horizontal gaze palsy with progressive scoliosis hgpps is an autosomal recessive disorder characterised by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to. At presentation serum lithium was within therapeutic range. This patient with a unilateral pontine infarct had.
Horizontal gaze palsy with progressive scoliosis hgpps is a rare autosomal recessive disease. People with this condition are unable to move their eyes sidetoside horizontally. Horizontal gaze palsy with progressive scoliosis hgps is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive. People with this condition are unable to move their eyes sidetoside horizontally and must turn. Bilateral horizontal gaze palsy likely results from a central cause affecting the midpons. Mri head should be sought if ct head shows no acute pathologies. Conjugate gaze palsies msd manual professional edition. A conjugate gaze palsy is inability to move both eyes in a single horizontal most commonly or vertical direction. Horizontal gaze palsy an overview sciencedirect topics. Horizontal gaze palsy with progressive scoliosis can. Pontine hemorrhage with horizontal gaze palsy springerlink. A palsy affecting all types of eye movements should be designated as a nonselective gaze palsy. Horizontal gaze palsy synonyms, horizontal gaze palsy pronunciation, horizontal gaze palsy translation, english dictionary definition of horizontal gaze palsy.
For horizontal gaze, it is the paramedian pontine reticular formation pprf in the midpons region that represents the horizontal gaze center generating conjugate horizontal movements for each eye. Bilateral infarcts in the tegmentum of the brainstem involving the pprf will result in com plete paralysis of all voluntary and reflex horizontal eye movements. Horizontal gaze palsy with progressive scoliosis genetic. Asked to follow with eyes thru horizontal plane or oculocephalic maneuver. Horizontal gaze palsy to the left slight head turn to the left conjugate deviation of her eyes to the right complete horizontal gaze palsy to the left saccadic and pursuit with inability to move her eyes past the midline conjugate gaze to the right normal normal.
Horizontal gaze palsies are generally caused by a lesion in the brain stem and connecting nerves, normally in the pons. Most vertical gaze palsies are selective in nature. Paradoxical convergence movements on attempted side gaze have been rarely reported in horizontal gaze palsy. Conjugate gaze palsies neurologic disorders msd manual. Case report a 43yearold african american woman presented urgently for evaluation of her inability to move her eyes into either horizontal gaze. Conjugate gaze palsies merck manuals professional edition.
Clinical presentation abnormal horizontal gaze while normal vertical gaze and kyphoscoliosis. Gaze palsy presenter dr shubhangini j moderatordr monica samant slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. The net result is activation of a neuroinflammatory cascade with release of cytokines, neurotoxic agents and reactive oxygennitrogen species and neuronal cell death. We evaluated another patient with this syndrome who harbors 2 novel robo3 gene mutations a 34yearold woman was born at full term from nonconsanguineous parents with normal psychological. A gaze palsy is the paresis of conjugate eye movements horizontal gaze palsy may be caused by lesions in the cerebral hemispheres, which cause paresis of gaze away from the side of the lesion, or from brain stem lesions, which, if they occur below the crossing of the fibers from the frontal eye fields in the caudal midbrain, will cause weakness of gaze toward the side of the lesion.
Central ocular motor disorders, including gaze palsy and nystagmus m. Ipsilateral hemiparesis caused by putaminal hemorrhage in. An outstanding problem in human gaze palsies has been to locate in vivo the paramedian pontine reticular formation pprf, which is the immediate premotor centre for saccade generation. Complete horizontal gaze palsy due to bilateral paramedian pontine reticular formation involvement as a presentation of multiple sclerosis. Horizontal gaze palsy with progressive scoliosis hgpps is a very rare form. Access to journal content in both adobe acrobat pdf or html formats. See also overview of neuroophthalmologic and cranial nerve disorders. The disorders of horizontal eye movement that are caused by brainstem lesions are classified into three groups. Brain mr imaging 3 months later showed tiny hemosiderin over the posterior pons with no other vascular lesions noted fig. Online mendelian inheritance in man accession number 6073 is a rare autosomal recessive disorder characterized by congenital absence of conjugate horizontal eye movements, preservation of vertical gaze and convergence, and progressive scoliosis developing in childhood and adolescence.