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]

• Turkish

  To date, over 15 mutations have been found in consanguineous families of Greek, Italian, Turkish, Pakistani, Saudi Arabian, and Indian descent. [ncbi.nlm.nih.gov]

  Most of the families with history of HGPPS have Arabic, Saudi, Turkish, Greek, Italian, American, and Chinese ethnicities ( 3 ). [journals.lww.com]

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

• Cape Verde

  Both patients were from Fogo Island in Cape Verde. Family history revealed African ancestry. There was no history of consanguinity or contact with other ethnicities. [journals.lww.com]

  Horizontal Gaze Palsy and Progressive Scoliosis with ROBO 3 Mutations in Patients from Cape Verde. J. Neuro-Ophthalmol. 2017;37:162–165. doi: 10.1097/WNO.0000000000000455. [PubMed] [CrossRef] [Google Scholar] 27. [ncbi.nlm.nih.gov]

• Distractibility

  After a 2-year follow up and two distractions, the deformity became stable with a Cobb angle of 40° (Figures 2B,C). [frontiersin.org]

• Muscle Tone Abnormalities

  Horizontal gaze palsy is explained by agenesis of abducens nuclei, whereas scoliosis could be due to chronic muscle tone abnormalities resulting from primary brain-stem disease involving posterior column structures and associative bundles. [ajnr.org]

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]

Stroke Treatment. External links [ edit ] [en.wikipedia.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]

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]

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]

[…] 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]

[…] 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]

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]

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]

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]

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]

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]

This is important to allow for adequate ocular follow up, apply supportive therapies to prevent the rapid progression of scoliosis, and lead to appropriate genetic counseling. [ncbi.nlm.nih.gov]

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]