Ataxia and developmental delay as the main manifestation of rhombencephalosynapsis

  • Mohammad Paktinat Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  • Soroor Inaloo Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  • Zahra Serati Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  • Eslam Shorafa Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
Keywords: Cerebellum Diseases, Cerebellar Vermis, Ataxia, Developmental Delay

References

1. Weaver J, Manjila S, Bahuleyan B, Bangert BA, Cohen AR. Rhombencephalosynapsis: Embryopathology and management strategies of associated neurosurgical conditions with a review of the literature. J Neurosurg Pediatr 2013; 11(3): 320-6.
2. Passi GR, Bhatnagar S. Rhombencephalosynapsis. Pediatr Neurol 2015; 52(6): 651-2.
3. Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, et al. Beyond Gomez-Lopez-Hernandez syndrome: Recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A 2012; 158A(10): 2393-406.
4. Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, et al. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Mov Disord 2013; 28(14): 2019-23.
5. Shahrzad M, Gold M. Rhombencephalosynapsis: A rare congenital anomaly presenting with seizure and developmental delay. Acta Neurol Belg 2015; 115(4): 685-6.
Published
2018-01-04
How to Cite
1.
Paktinat M, Inaloo S, Serati Z, Shorafa E. Ataxia and developmental delay as the main manifestation of rhombencephalosynapsis. IJNL. 17(1):56-7.
Section
Neurological Images / Videos