Abstract
BackgroundHorizontal 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 presentationWe 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.ConclusionWe report the first known HGPPS case with intracranial hemorrhage and ROBO3 mutation showing an absence of major crossing pathways by DTI.
Highlights
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
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 11q23-25 [1]
We report the first known HGPPS case with intracerebral hemorrhage and mutation in the ROBO3 gene showing the absence of major crossing pathways by Diffusion tensor imaging (DTI)
Summary
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 11q23-25 [1]. We report the first known HGPPS case with intracerebral hemorrhage and mutation in the ROBO3 gene showing the absence of major crossing pathways by DTI. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed left putaminal hemorrhage and brain stem hypoplasia (Figures 1B and 2) She is the first child of healthy parents who are second cousins, and her brother developed scoliosis in childhood. After performing genetic counseling and obtaining written informed consent from the patient, genomic DNA was extracted from peripheral blood cells, and DNA sequencing was performed directly on the purified PCR products using a capillary DNA sequencer (3130xI Genetic Analyzer, Applied Biosystems) She carried a homozygous nonsense mutation c.2392C > T in exon 15 of ROBO3 (Figure 4). She was treated and showed significant clinical improvement, and she was subsequently discharged to home
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