Horizontal gaze palsy with progressive scoliosis hgpps is a rare congenital disorder with autosomal recessive inherence, characterized by impaired conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence 1, 2. Horizontal gaze palsy with progressive scoliosis hgpps is a recessive disorder defined by almost complete limitation of horizontal eye movements with intact vertical gaze, and scoliosis that begins in the first decade of life and is often severe and debilitating. Horizontal gaze palsy with progressive scoliosis hgpps is a rare congenital disorder caused by mutation in the robo3 gene. Other rare gaze abnormalities include horizontal gaze palsy with progressive scoliosis 8, 9 and progressive upward gaze paralysis that may suggest the presence of lipid storage disease 10,11. In this study, the objective is to identify pathogenic variants in a cohort of. The authors examined 11 individuals with hgpps from five genotyped families. Horizontal gaze palsy with progressive scoliosis hgpps 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. Ct and mri of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly. Horizontal gaze palsy with progressive scoliosis hgpps is a disorder that affects vision and also causes an abnormal curvature of the spine scoliosis. Electronic letter horizontal gaze palsy with progressive. Mr imaging revealed a left putamen and corona radiata nonhemorrhagic infarct figure 1 as well as features suggestive of horizontal gaze palsy with progressive scoliosis hgpps, brain stem hypoplasia resulting in the split pons sign, butterfly configuration of the medulla figure 2a, b. The only way the scoliosis associated with hgpps has. Horizontal gaze palsy with progressive scoliosis is a rare, congenital autosomal recessive disorder caused by mutations in the robo3 gene. Ipsilateral stroke in a patient with horizontal gaze palsy.
Frontiers clinical and genetic heterogeneity in six. 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. Horizontal gaze palsy with progressive scoliosis hgpps is a rare and autosomal recessive syndrome. We present a child with clinical and neuroimaging findings typical of hgpps. Horizontal gaze palsy with progressive scoliosis hgpps is a rare disease with bilateral horizontal gaze palsy and severe scoliosis and characteristic imaging features 1. Horizontal gaze palsy and progressive scoliosis with. Horizontal gaze palsy with progressive scoliosis hgpps is a rare autosomal recessive congenital disorder characterized by the absence of conjugate horizontal eye movements, and progressive debilitating scoliosis during childhood and adolescence. Horizontal gaze requires the action of ipsilateral abd. People with this condition are unable to move their eyes sidetoside horizontally. Our observations serve to document the first cases in morocco. A yearold patient was referred for surgical treatment of scoliosis. Horizontal gaze palsy with progressive scoliosis hgpps is a rare congenital disorder with autosomal recessive inheritance that is associated with mutations in the robo3 gene located at chromosome 11q2325.
An uncommon case of horizontal gaze palsy with scoliosis and. Horizontal gaze palsy with progressive scoliosis boston. Horizontal gaze palsy with progressive scoliosis can. 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.
Brainstem axon crossing defects in horizontal gaze palsy with progressive scoliosis assessed with diffusion tensor imaging and neurophysiological testing. 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. Horizontal gaze palsy with progressive scoliosis hgpps is a rare clinical condition 1 with autosomal recessive inheritance 2, 3. Horizontal gaze palsy with progressive scoliosis hgpps is a rare clinical condition characterized by a combination of horizontal gaze palsy, pendular nystagmus and scoliosis. Near reflex substitution for horizontal gaze palsy in a. Horizontal gaze palsy and progressive scoliosis hgpps is a rare autosomal recessive disorder characterised by absent conjugate lateral eye movements with preserved vertical gaze and progressive scoliosis. Robo3 gene mutations are causative of the lack, or at least. Introduction horizontal gaze palsy with progressive scoliosis hgpps is a known clinical entity, as a part of congenital cranial dysinnervation disorder syndrome ccdds. Surgical treatment for scoliosis was performed successfully figure 2. Horizontal gaze palsy with progressive scoliosis hgpps is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in. Enable javascript to view the expandcollapse boxes.
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. An uncommon case of horizontal gaze palsy with scoliosis. Ungaro c, valentini s, cerasa a, lanza pl, mazzei r 2018 horizontal gaze palsy with progressive scoliosis. Congenital horizontal gaze palsy eccles health sciences. This progress was due to the reporting of single interesting cases. Scoliosis horizontal gaze palsy nystagmus robo3 imaging genetic orthopaedics a b s t r a c t horizontal gaze palsy with progressive scoliosis hgpps is a rare clinical condition characterized by a combination of horizontal gaze palsy, pendular nystagmus and scoliosis. Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in robo3. Genetic studies underpin that the pathogenesis of hgpps is associated with mutations of the robo3 gene, as the robo3 protein. Her neurological examination revealed the complete loss of horizontal eye movements with normal vertical gaze, suggesting diagnosis of horizontal gaze palsy and progressive scoliosis. It is characterized by absent horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Horizontal gaze palsy with progressive scoliosis genetics home.
Mr imaging of brainstem hypoplasia in horizontal gaze. At admission a complete absence of the horizontal eye movements was identified, with preserved convergence and vertical eye movements. They demonstrated typical findings on neuroophthalmic examination and brain magnetic resonance imaging. The magnetic resonance imaging revealed a hypoplastic pons and medulla with a prominent midline cleft, therefore resulting in. Only a few cases have been previously described in the literature. People with this condition are unable to move their eyes sidetoside horizontally and must turn their head instead of moving their eyes to track moving objects. 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. Horizontal gaze palsy with progressive scoliosis genetic. Horizontal gaze palsy with progressive scoliosis in a moroccan family. Pdf horizontal gaze palsy with progressive scoliosis hgpps is a rare congenital disorder characterized by absence of conjugate horizontal eye. It is characterized by the absence of conjugate horizontal eye movements with preserved vertical gaze, variable convergence, and progressive scoliosis, developing in childhood and adolescence. Horizontal gaze palsy with progressive scoliosis hgpps is a rare disorder characterised by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing in childhood and adolescence. Juvenile progressive scoliosis and congenital horizontal gaze palsy.
Horizontal gaze palsy with progressive scoliosis nih. Pdf horizontal gaze palsy and progressive scoliosis. Horizontal gaze palsy with progressive scoliosis hgpps is a rare autosomal recessive disease. 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. Horizontal gaze palsy with progressive scoliosis hgpps is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and. Clinical presentation abnormal horizontal gaze while normal vertical gaze and kyphoscoliosis. The syndrome of horizontal gaze palsy with progressive scoliosis hgpps is a rare human disease. Horizontal gaze palsy with progressive scoliosis hgpps is a very rare form of conjugate gaze palsy, appearing only in a few dozen families worldwide. 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. Horizontal gaze palsy with progressive scoliosis in a. Hgpps is characterized by the absence of conjugate horizontal eye movements, preservation of the vertical gaze and convergence, and progressive scoliosis during.
Horizontal gaze palsy with progressive scoliosis hgpps is a rare disorder that affects vision and also causes an abnormal curvature of the spine. Horizontal gaze palsy and progressive scoliosis hgpps was first identified in 5 children of 2 families by dretakis and kondoyannis in 1974. Patients with horizontal gaze palsy and progressive. So here are just a few more things that further cement my thought that the vestibular system and the importance of internal balance needs to be addressed in scoliosis. Pdf horizontal gaze palsy with progressive scoliosis a case report. It occurs due to mutation in robo 3 genechromosome 11q23q25. My first correspondence with both of them was via e. Horizontal gaze palsies are generally caused by a lesion in the brain stem and connecting nerves, normally in the pons. Horizontal gaze palsy with progressive scoliosis hgpps is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence.
Pdf neurologic features of horizontal gaze palsy and. 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. Everyday life with horizontal gaze palsy with progressive. Horizontal gaze palsy with progressive scoliosis a case.
Horizontal gaze palsy with progressive scoliosis a case report. 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. Horizontal gaze palsy with progressive scoliosis hgpps is a rare autosomal recessive congenital anomaly characterized by horizontal gaze. Horizontal gaze palsy with progressive scoliosis hgpps is an autosomal recessive disorder characterized by congenital absence of conjugate horizontal eye. 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.
Acquired convergence substitution in horizontal gaze palsy and progressive scoliosis associated with robo3 mutations. The authors examined 11 individuals with hgpps from five. Gaze palsy, familial horizontal, with progressive scoliosis. Horizontal gaze palsy with progressive scoliosis hgpps. Horizontal gaze palsy and progressive scoliosis with robo.
The spectrum of robo3 mutations in horizontal gaze palsy. Horizontal gaze palsy an overview sciencedirect topics. Horizontal gaze palsy with progressive scoliosis is a rare autosomal recessive disorder characterized by congenital absence of normal horizontal eye movements and progressive scoliosis during childhood and adolescence. Abuamero 2008 described an arab patient living in qatar affected with familial horizontal gaze palsy with progressive scoliosis hgpps. Pdf horizontal gaze palsy with progressive scoliosis. Jen are the researchers responsible for identifying the gene mutation in horizontal gaze palsy with progressive scoliosis hgpps. As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. The association with scoliosis was first reported in 1974, whilst thirty years later the responsible gene robo3 and mutations were being elucidated 1, 2. Horizontal gaze palsy with progressive scoliosis hgpps is a rare disorder.
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