Horizontal gaze palsy with progressive scoliosis – A case report
نویسندگان
چکیده
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes. On examination, she had scoliosis with restricted abduction and adduction in both eyes with intact elevation and depression. Magnetic resonance imaging of the brain and orbit showed brainstem hypoplasia with absence of facial colliculi, presence of a deep midline pontine cleft (split pons sign), and a butterfly configuration of the medulla, which are the radiological findings seen in this disorder.
منابع مشابه
Mutation in ROBO3 gene recently demonstrated in patients with horizontal gaze palsy with progressive scoliosis.
Patients with Horizontal Gaze Palsy with Progressive Scoliosis The recent report in AJNR by dos Santos et al shows a case of MR imaging features in a child with horizontal gaze palsy with progressive scoliosis. This rare disorder has recently been shown by Jen et al to be secondary to defective brain stem crossing of descending corticospinal and somatosensory axons due to mutations in the ROBO3...
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BACKGROUND 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. CASE PRESENTATION We present a patient with ipsilateral hemiparesis caused by putaminal hemorrhage who had a history of horizontal gaze paralysis and scoliosis since childhood. Diffusi...
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We report the case of a child with horizontal gaze palsy, pendular nystagmus, and discrete thoracolumbar scoliosis. MR imaging of the brain depicted pons hypoplasia with an absence of the facial colliculi, hypoplasia, butterfly configuration of the medulla, and the presence of a deep midline pontine cleft (split pons sign). These MR imaging findings suggest familial horizontal gaze palsy with p...
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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 scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-...
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HGPPS is a rare congenital disorder resulting from cranial nuclear maldevelopment and characterized by absence of conjugate horizontal eye movements, preservation of vertical gaze & convergence, progressive scoliosis developing in childhood and hypoplasia of dorsomedial brainstem structures associated with sagittal cleft of pons and medulla. We present a 19 years old male, with restriction of e...
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