RHOMBENCEPHALOSYNAPSIS: A CASE SERIES
Abstract
Rhombencephalosynapsis (RES) is a very rare congenital cerebellar anomaly with limited number of cases reported worldwide. It is characterised by partial or complete agenesis of cerebellar vermis with variable cerebellar hemisphere fusion. Resultant clinical presentation is highly variable ranging from delayed developmental milestones to cognitive and intellectual impairment. This article reports a case series of two child patients presenting with intellectual disability and delayed milestones.
Keywords: Rhombencephalosynapsis, fused cerebellum, intellectual disability.
Full Text:
PDFReferences
Ishak GE, Dempsey JC, Shaw DWW, Tully H, Adam MP, Sanchez-Lara PA, et al. Rhombencephalosynapsis: a hindbrain malformation associated with incompleteseparation of midbrain and forebrain, hydrocephalus and a broad spectrum of severit. Brain, 135 (5) (2012), pp. 1370-1386
Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overwegplandsoen WCG, Bast TW, et al. Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics. 2002;33(04):209-14.
Sarnat H. Molecular genetic classification of central nervous system malformations. J Child Neurol, 15 (2000), pp. 675-687.
Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJR, Sanchez-Lara P, et al. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet Part A, 158 (10) (2012), pp. 2393-2406
Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, et al. Rhombencephalosynapsis: fused cerebellum, confused geneticists
Am J Med Genet Part C Semin Med Genet, 178 (4) (2018), pp. 432-439
Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, et al.
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases
Acta Neuropathol, 117 (2) (2009), pp. 185-200
Larsell O. The development of the cerebellum in man in relation to its comparative anatomy. J Comp Neurol 87:85-129.
Utsunomiya H, Takano K, Ogasawara T, Hashimoto T, Fukushima T, Okazaki M. Rhombencephalosynapsis: cerebellar embryogenesis. AJNR Am J Neuroradiol 19:547-549. (PMID: 9541316)
Chemli J, Abroug M, Tlili K, Harbi A. Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings. Eur J Paediatr Neurol, 11 (1) (2007), pp. 35-38
Refbacks
- There are currently no refbacks.
© Copyright PJR 2008- |