Horizontal gaze palsy with progressive scoliosis in a Moroccan family

Handor, Hanan; Laghmari, M.; Hafidi, Zouheir; Daoudi, R.

doi:10.1016/j.otsr.2013.08.012

Cited by 7 publications

(13 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This variability has also been reported by Ungaro et al (27). However, the scoliosis is most often very highly progressive during childhood (16,19,21,23). It is therefore, often necessary to treat the spinal deformity in young children with growthfriendly surgery if the scoliosis is severe, either at diagnosis or after a failed attempt of orthotic treatment.…”

Section: Discussionsupporting

confidence: 59%

“…Left and right thoracic scoliosis have been reported in many cases with HGPPS (16,20,21,23). In our patients spinal X-rays showed more often left thoracic scoliosis.…”

Section: Discussionsupporting

confidence: 54%

“…Neonatal scoliosis has also been reported (17). The scoliosis is often observed in early childhood or even in the first year of life with an average age at diagnosis of 4.3 year (16,(18)(19)(20)(21), and is rarely reported in adolescence (22).…”

Section: Discussionmentioning

confidence: 99%

“…Most spinal deformities were severe in our patients with a Cobb angle at skeletal maturity reaching more than 90 • in most cases and often more than 120 • . This severity is a common feature of scoliosis in HGPPS (20,21,23). Less severe deformities can be seen either without treatment or after orthopedic treatment with no need of surgical correction (11,19,(24)(25)(26).…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases

et al. 2020

View full text Add to dashboard Cite

Background: Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) is a rare autosomal recessive congenital disorder characterized by the absence of conjugate horizontal eye movements, and progressive debilitating scoliosis during childhood and adolescence. HGPPS is associated with mutations of the ROBO3 gene. In this study, the objective is to identify pathogenic variants in a cohort of Tunisian patients with HGPPS and to further define ROBO3 genotype-phenotype correlations. Methods: Thirteen Tunisian patients from six unrelated consanguineous families all manifesting HGPPS were genetically investigated. We searched for the causative variants for HGPPS using classical Sanger and whole exome sequencing. Results: Four distinct homozygous mutations were identified in ROBO3 gene. Two of these were newly identified homozygous and non-synonymous mutations, causing effectively damage to the protein by in silico analysis. The other two mutations were previously reported in Tunisian patients with HGPPS. Mutations were validated by Sanger sequencing in parents and affected individuals. Conclusion: To the best of our knowledge, this is the largest ever reported cohort on families with HGPPS in whom ROBO3 mutations were identified. These molecular findings have expanded our knowledge of the ROBO3 mutational spectrum. The relevance of our current study is twofold ; first to assist proper management of the scoliosis and second to protect families at risk.

show abstract

Section: Discussionsupporting

confidence: 59%

“…Left and right thoracic scoliosis have been reported in many cases with HGPPS (16,20,21,23). In our patients spinal X-rays showed more often left thoracic scoliosis.…”

Section: Discussionsupporting

confidence: 54%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases

et al. 2020

View full text Add to dashboard Cite

show abstract

“…The lesion could be undetected on MRI, despite being quite large (4 cm) in size. Bouguennec et al [ 13 ] were still unable to detect the localized PVNS lesion despite their detailed preoperative paraclinical assessment including X-rays, CT arthrography and MRI; the lesion had mimicked a lateral meniscus injury and was only confirmed during arthroscopy and subsequent biopsy. The principal treatment of GCT-TS and PVNS is surgical excision, especially in the knee and foot [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

Giant Cell Tumor of the Patella Tendon Sheath Presenting as a Painful Locked Knee

et al. 2015

View full text Add to dashboard Cite

Patient: Male, 26Final Diagnosis: Giant cell tumor of the patella tendon seathSymptoms: Efusion • locking knee • painMedication: NoneClinical Procedure: Arthroscopy and open resection of the tumorSpecialty: Orthopedics and TraumatologyObjective:Rare diseaseBackground:The giant cell tumor of the tendon sheath (GCT-TS) is a benign proliferative synovial tumor manifesting as an intra-articular solitary nodule. When it involves the infrapatellar fat pad it can present acutely as a painful locked knee.Case Report:A 26-year-old white male presented with a 2-week history of painful locking in his right knee. Clinical examination revealed lack of extension by approximately 20°. To help establish the diagnosis, an MRI scan of the right knee was performed, showing a large (5×4×2 cm), oval, well-circumscribed mass with a low-intensity homogenous signal. The size of the mass prohibited the removal by arthroscopy and we therefore proceeded with an open arthrotomy. Histological examination showed a tendosynovial giant cell tumor of the patella tendon sheath. At the latest follow-up, 2 years postoperatively, there was no local tumor recurrence.Conclusions:These rare tumorous lesions should be included in the differential diagnosis of painful locking knee, especially in the absence of definite traumatic history.

show abstract

Compound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review

et al. 2021

View full text Add to dashboard Cite

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessively inherited disorder characterized by a congenital absence of conjugated horizontal eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations of the ROBO3 gene that disrupts the midline crossing of the descending corticospinal and ascending lemniscal sensory tracts in the medulla. We present two siblings, 5-year-old and 2-year-old boys with HGPPS, from non-consanguineous parents. The older brother was brought for the evaluation of moderate psychomotor retardation. He had bilateral horizontal gaze palsy with preserved vertical gaze and convergence. Scoliosis was absent. Cranial MRI showed brainstem abnormalities, and diffusion tensor imaging showed absent decussation of cortico-spinal tracts in the medulla. Clinical diagnosis of HGPPS was confirmed by sequencing of ROBO3 gene, IVS4–1G > A (c.767–1G > A) and c.328_329delinsCCC (p.Asp110Profs*57) compound heterozygous variations were found, and segregated in parents. The younger boy was first reported at 16 months of age and had the same clinical and neuroradiological findings, unlike mild psychomotor retardation. ROBO3 gene analysis showed the same variants in his brother. Our cases show the importance of evaluating eye movements in children with neurodevelopmental abnormalities and looking for brainstem abnormalities in children with bilateral horizontal gaze palsy.

show abstract

Horizontal gaze palsy with progressive scoliosis in a Moroccan family

Cited by 7 publications

References 9 publications

Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases

Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases

Giant Cell Tumor of the Patella Tendon Sheath Presenting as a Painful Locked Knee

Compound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review

Contact Info

Product

Resources

About