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]

• 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]

• Hearing Impairment

  impairment 0000407 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Congenital onset Symptoms present at birth [rarediseases.info.nih.gov]

• Short Neck

  neck Decreased length of neck 0000470 5%-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 [rarediseases.info.nih.gov]

• Intracranial Hemorrhage

  CONCLUSION: We report the first known HGPPS case with intracranial hemorrhage and ROBO3 mutation showing an absence of major crossing pathways by DTI. [ncbi.nlm.nih.gov]

  CONCLUSION We report the first known HGPPS case with intracranial hemorrhage and ROBO3 mutation showing an absence of major crossing pathways by DTI. [unboundmedicine.com]

• Cognitive Impairment

  Treatment is based on the signs and symptoms present in each person. 0002808 Scoliosis Abnormal curving of the spine 0002650 30%-79% of people have these symptoms Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive [rarediseases.info.nih.gov]

  At 18 months, he developed bacterial menigitis resulting in cognitive impairment, reduced muscle tone and strength, and difficulties with speech and coordination. [journals.lww.com]

• 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]

• 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]

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]

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]

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]

[…] 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]

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

[…] 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]

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]

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]

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]

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]

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]