Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
نویسندگان
چکیده
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. Diffusion tensor imaging (DTI) tractography confirmed the presence of uncrossed corticospinal tracts. Sequence analysis of the entire ROBO3 coding regions revealed a novel nonsense mutation. CONCLUSION We report the first known HGPPS case with intracranial hemorrhage and ROBO3 mutation showing an absence of major crossing pathways by DTI.
منابع مشابه
Ipsilateral stroke in a patient with horizontal gaze palsy with progressive scoliosis and a subcortical infarct.
BACKGROUND AND PURPOSE horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder caused by mutation in the ROBO3 gene. It is characterized by absent horizontal eye movements with progressive scoliosis developing in childhood and adolescence. To our knowledge, both diffusion tensor imaging evaluation in HGPPS patients who present with stroke and truncating stop codon...
متن کاملIpsilateral hemiparesis after putaminal hemorrhage due to uncrossed pyramidal tract.
OBJECTIVE Previous case reports supported the presence of the uncrossed pyramidal tract in exceptional patients. However, most of these case reports have not fully discussed involvement of the motor cortex controlling the ipsilateral limbs. DESIGN AND METHOD The authors investigated a 62-year-old man who developed right hemiparesis after right putaminal hemorrhage by using MRI, transcranial m...
متن کاملMutation 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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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....
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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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