SUMMARY OF CASE: we present a man with HGPPS who experienced a left pure motor stroke as a result of a left corona radiata infarct on diffusion-weighted imaging. [ncbi.nlm.nih.gov]

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. [unboundmedicine.com]

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. [jhu.pure.elsevier.com]

• Progressive Ophthalmoplegia

  Title Other Names: Progressive external ophthalmoplegia and scoliosis; HGPPS; Gaze palsy, horizontal, with progressive scoliosis ; Progressive external ophthalmoplegia and scoliosis; HGPPS; Gaze palsy, horizontal, with progressive scoliosis ; Gaze Palsy [rarediseases.info.nih.gov]

• Vomiting

  However, he represented 2 weeks later complaining of episodes of frontal headache and vomiting. Figure 3: Postoperative antero-posterior radiograph showing the instrumented fusion of the scoliotic deformity. [hippokratia.gr]

• Strabismus

  Expert guidance on the complete spectrum of childhood eye disorders and strabismus, including a unique "practical problems" section designed to help you handle difficult patient situations. [books.google.de]

  Two common ones are Strabismus - a disorder in which the two eyes don't line up in the same direction. This results in "crossed eyes" or "walleye." [icdlist.com]

  Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]

  Neurological: * Congenital Cranial Dysinnervation Disorder * Horizontal Gaze Palsy (Horizontal gaze palsy is sometimes misdiagnosed as sixth nerve palsy, Duane Syndrome or Mobius Syndrome) Vision: * Strabismus * Astigmatism Orthopedic: * Torticolis * [strengthofspirit.weebly.com]

  Nitin Jain, Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Avinashi Road, Coimbatore, India. [scienceopen.com]

• Esotropia

  Publication type, MeSH terms, Substances, Supplementary concept Publication type Case Reports MeSH terms Child, Preschool Consanguinity Esotropia/complications* Esotropia/diagnosis Esotropia/genetics Eye Movements/physiology* Female Fixation, Ocular/physiology [ncbi.nlm.nih.gov]

  […] dc.identifier.uri http://hdl.handle.net/10473/3761 dc.format.medium Video/RealMedia/0:0:00 minutes ; Video/QuickTime/0:0:00 minutes en_US dc.subject.classification Normal Vertical Gaze en_US dc.subject.classification Esotropia en_US dc.subject.classification [repository.countway.harvard.edu]

  Example subject 2 (images (d), (e), and (f)) also has a unilateral absence of horizontal eye movements in the left eye together with bilaterally infraducted globes and an esotropia. There is globe retraction on the left with attempted right gaze. [aibolita.com]

  In primary position, she had 30 prism diopter (PD) esotropia with mild left hypertropia. Examination of ocular movements revealed absence of abduction on either side. [ijo.in]

  All patients had a mild esotropia requiring a slight head turn in order to fixate with either eye. [mafiadoc.com]

• Hearing Impairment

  29% of people have these symptoms Seizures Seizure 0001250 Sensorineural hearing impairment 0000407 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Cerebellar hypoplasia Small cerebellum [rarediseases.info.nih.gov]

• Torticollis

  The older brother (V-3) was first seen when he was 1 year old for a squint associated with a left torticollis, which was at first mistaken with a muscular torticollis. [frontiersin.org]

  Further observation showed dorsal thoracolumbar scoliosis with torticollis over the left shoulder. An ocular examination showed orthotropic eye motility in the primary position without diplopia. [healio.com]

  Torticollis has been previously reported in several infants with HGPPS [21]. [ncbi.nlm.nih.gov]

• Chronic Progressive External Ophthalmoplegia

  These are most commonly myopathic in origin, occurring with mitochondrial disorders (chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, MELAS), myotonic dystrophy, oculopharyngeal dystrophy, thyroid eye disease, myasthenia gravis, and [medlink.com]

The deformity was seen several years earlier but no treatment was performed. A treatment with traditional dual growing rods was started. [frontiersin.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

State-of-the-art coverage of key areas such as OCT and all of the newest imaging techniques for the eye, orbit and visual pathways; anti-VEGF treatment for retinopathy of prematurity; and minimally invasive strabismus surgery. [books.google.de]

Treatment - Opthalmoplegia progressive external scoliosis * Child Health Specialists (Pediatrics): o Pediatrics (Child Health Specialist) o Adolescent Medicine (Teen Health) o Neonatal-Perinatal Medicine o Pediatric / Adolescent Psychiatry o Pediatric [checkorphan.org]

Diagnosis - Opthalmoplegia progressive external scoliosis Home medical testing related to Opthalmoplegia progressive external scoliosis: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests Prognosis - Opthalmoplegia [checkorphan.org]

[ edit ] The prognosis of a lesion in the visual neural pathways that causes a conjugate gaze palsy varies greatly. [en.wikipedia.org]

[…] some hitherto unknown developmental genetic or physiologic association that warrants an ophthalmologic assessment in patients with HGPPS to detect early signs of keratoconus and, if necessary, adequately manage ophthalmological complications to improve prognosis [healio.com]

PATOLOGIA NEOPLASTICA min. max. fisso 9322 NEOPLASIE A PROGNOSI FAVOREVOLE CON MODESTA COMPROMISSIONE FUNZIONALE / / 11 9323 NEOPLASIE A PROGNOSI FAVOREVOLE CON GRAVE COMPROMISSIONE FUNZIONALE / / 70 9325 NEOPLASIE A PROGNOSI INFAUSTA O PROBABILMENTE [medisoc.it]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.de]

[…] pathology* Codon, Nonsense Diffusion Tensor Imaging Female Humans Middle Aged Ophthalmoplegia, Chronic Progressive External/complications* Ophthalmoplegia, Chronic Progressive External/genetics Ophthalmoplegia, Chronic Progressive External/pathology Paresis/etiology [ncbi.nlm.nih.gov]

Scoliosis may result from lack of normal contralateral cross talk because of absence of crossing fibers, and suggests that scoliosis can, indeed, be neurogenic in etiology. [repository.countway.harvard.edu]

It requires sequential treatment including glasses, contact lenses, intrastromal corneal rings, and, in many cases, keratoplasty. 7,8 Despite intensive investigation, its precise etiology is unknown. [healio.com]

Etiology of idiopathic scoliosis: current trends in research. J Bone Joint Surg Am 2000 ; 82-A : 1157 –1168 ↵ Barrios C, Arrotegui JI. Experimental kyphoscoliosis induced in rats by selective brain stem damage. [ajnr.org]

Laura Merlini, Department of Radiology and Epidemiology, University Hospital Geneva, Rue Willy-Donzé 6, 1205 Geneva, Switzerland. Tel.: +41 79 553 2539; Fax: +41 22 372 7080; E-mail: [email protected]. [content.iospress.com]

Relevant External Links for ROBO3 Genetic Association Database (GAD) ROBO3 Human Genome Epidemiology (HuGE) Navigator ROBO3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ROBO3 No data available for Genatlas for ROBO3 Gene Mutations in [genecards.org]

Epidemiologically HGPPS mostly concentrates in families of Saudi 2,6, Turkish 6, Irish 10 and Tunisian 11 ethnicities. [hippokratia.gr]

Truncating mutation in ROBO3 may provide additional pathophysiologic insights. [ncbi.nlm.nih.gov]

Internuclear Ophthalmoplegia: Pathophysiology and Diagnosis. Baillière's Clinical Neurology. 1992;1(2):455-470". Web.ebscohost.com. Retrieved 2013-07-07. ^ Hertle RW. Nystagmus in Infancy and Childhood. [en.wikipedia.org]

Prevention - Opthalmoplegia progressive external scoliosis Not supplied. [checkorphan.org]

The early diagnosis of HGPPS is important to allow for adequate ocular follow-up, to apply supportive therapies to prevent rapid progression of scoliosis, 4 and to lead to appropriate genetic counseling. [healio.com]

Mutation of the ROBO3 gene may disturb decussation in the spinal cord as well as the brainstem (as happens in the mouse), even though the human spinal cord appears normal on neuroimaging, preventing equalization of tone in the paraspinous muscles on the [aibolita.com]

HGPPS prevents horizontal movement of both eyes, causing people with this condition to have to move their head to see moving objects. [en.wikipedia.org]

We have unexpectedly implicated a divergent member of the Robo family, Rig-1 (or Robo3), in preventing premature Slit sensitivity in mammals. Expression of Rig-1 protein by commissural axons is inversely correlated with Slit sensitivity. [scienceopen.com]