Objective: To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on ...Objective: To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems. Methods: The authors examined 11 individuals with HGPPS from five genotyped families with HGPPS. Eight individuals had brain MRI, and six had electrophysiologic studies. Results: Horizontal gaze palsy was fully penetrant, present at birth, and total or almost total in all affected individuals. Convergence, ocular alignment, congenital nystagmus, and vertical smooth pursuit defects were variable between individuals. All patients developed progressive scoliosis during early childhood. All appropriately studied patients had hypoplasia of the pons and cerebellar peduncles with both anterior and posterior midline clefts of the pons and medulla and electrophysiologic evidence of ipsilateral corticospinal and dorsal column-medial lemniscus tract innervation. Heterozygotes were unaffected. Conclusions: The major clinical characteristics of horizontal gaze palsy and progressive scoliosiswere congenital horizontal gaze palsy and progressive scoliosis with some variability in both ocular motility and degree of scoliosis. The syndrome also includes a distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways.展开更多
Background: Some patients with acquired horizontal gaze palsy overcome the adduction palsy by utilizing convergence. This substitution phenomenon is very rare. We report a patient with horizontal gaze palsy who was ab...Background: Some patients with acquired horizontal gaze palsy overcome the adduction palsy by utilizing convergence. This substitution phenomenon is very rare. We report a patient with horizontal gaze palsy who was able to use convergence to compensate for the lack of adduction in the left eye. Case: The patient was a 31- year-old woman with an arteriovenous malformation in the fourth ventricle. She suffered right gaze palsy and right abducens palsy after tumor surgery and radiation therapy. Observations: Three years after the vascular accident, she was found to be able to adduct the left eye, in association with the adduction of the right eye. At the same time, constriction of both pupils and globe retraction of the left eye were observed. When she shifted the gaze direction of her left eye from left to right, an 11 and 8 diopter increase of myopia in the right and left eyes, respectively, was confirmed by objective refractometry. Conclusions: The existence of convergence substituting for adduction in this patient with horizontal gaze palsy was confirmed by refraction change in addition to pupillary change.展开更多
文摘Objective: To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems. Methods: The authors examined 11 individuals with HGPPS from five genotyped families with HGPPS. Eight individuals had brain MRI, and six had electrophysiologic studies. Results: Horizontal gaze palsy was fully penetrant, present at birth, and total or almost total in all affected individuals. Convergence, ocular alignment, congenital nystagmus, and vertical smooth pursuit defects were variable between individuals. All patients developed progressive scoliosis during early childhood. All appropriately studied patients had hypoplasia of the pons and cerebellar peduncles with both anterior and posterior midline clefts of the pons and medulla and electrophysiologic evidence of ipsilateral corticospinal and dorsal column-medial lemniscus tract innervation. Heterozygotes were unaffected. Conclusions: The major clinical characteristics of horizontal gaze palsy and progressive scoliosiswere congenital horizontal gaze palsy and progressive scoliosis with some variability in both ocular motility and degree of scoliosis. The syndrome also includes a distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways.
文摘Background: Some patients with acquired horizontal gaze palsy overcome the adduction palsy by utilizing convergence. This substitution phenomenon is very rare. We report a patient with horizontal gaze palsy who was able to use convergence to compensate for the lack of adduction in the left eye. Case: The patient was a 31- year-old woman with an arteriovenous malformation in the fourth ventricle. She suffered right gaze palsy and right abducens palsy after tumor surgery and radiation therapy. Observations: Three years after the vascular accident, she was found to be able to adduct the left eye, in association with the adduction of the right eye. At the same time, constriction of both pupils and globe retraction of the left eye were observed. When she shifted the gaze direction of her left eye from left to right, an 11 and 8 diopter increase of myopia in the right and left eyes, respectively, was confirmed by objective refractometry. Conclusions: The existence of convergence substituting for adduction in this patient with horizontal gaze palsy was confirmed by refraction change in addition to pupillary change.
