Objective: as presenting our case , the first HGPPS with cervical dystonia and blepharospasm,we aim to review the previous published cases of HGPPS with extrapyramidal signs looking for possible extrapyramidal explanation for scoliosis reasonable with ROBO3 mutation and brainstem dysfunction.

Background: HGPPS considered as a genetic disease with specific imaging appearance of butterfly medulla and split pons sign.the mutation of ROBO3 in HGPPS make the pyramidal tract travel straight downward without crossing in the pontomedullary junction which leads to pyramidal dysfunction,yet the explanation of the scoliosis and its relation to this mutation is questionable.here we present a young man diagnosed with HGPPS by homozygous mutation of ROBO3 and typical brainstem MRI findings with concurrence of cervical dystonia and blepharospasm along with horizontal gaze palsy and progressive scoliosis.

Method: We reviewed the published cases of HGPPS between year 1975 to 2020 through search engines.Then we look for extrapyramidal signs including: torticollis,head titubation, abnormal head posture,cervical dystonia,blepharospasm and facial myokymia

Results: A total number of 84 reported patients with HGPPS detected.extrapyramidal signs as dystonic head tremor, head titubation and Torticollis have been reported in 15 patients.Bilateral facial myokymia with continuous facial contraction developed in two patients which one of them had torticollis along.

Conclusion: the extrapyramidal system serves an essential function in maintaining posture and regulating involuntary motor functions resulting in Postural tone adjustment.There is evidence that brainstem play a role in the pathophysiology of dystonia.in HGPPS the diameter of both the pons and the medulla is reduced and have malfunction according to MRI functioal modalities.As the patient of ours and some others showed extrapyramidal involvement as well, we propose extrapyramidal dysfunction as a possible cause for scoliosis.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/extrapyramidal-involvement-in-horizontal-gaze-palsy-with-progressive-scoliosis-hgpps/