Rhombencephalosynapsis is a rare genetic brain abnormality of malformation of the cerebellum. The cerebellar vermis is either absent or only partially formed, and fusion is seen in varying degree between the cerebellar hemispheres, fusion of the middle cerebellar peduncles, and fusion of the dentate nuclei.[1] Findings range from mild truncal ataxia, to severe cerebral palsy.[2]

Rhombencephalosynapsis is a constantly found feature of Gomez-Lopez-Hernandez syndrome.[3] One case of which has shown a co-occurrence with autism-spectrum disorder.[4]

Presentation

Clinical indications range from mild truncal ataxia with unaffected cognitive abilities, to severe cerebral palsy and intellectual disability.

Genetics

An association with mutations in the MN1 gene has been reported in cases of atypical rhomboencephalosynapsis.[5]

Pathology

Rhombencephalosynapsis is a rare brain disorder of malformation of the cerebellum that may be detected on ultrasound of the fetus. The vermis is either absent or partially formed. There is dorsal fusion of the cerebellar hemispheres, fusion of the dentate nuclei, and fusion of the middle cerebellar peduncles.[1] The degree of severity of this disorder is associated with the degree of maldevelopment of the cerebellar vermis.[1]

Aqueductal stenosis commonly exists with the disorder, as does its often resulting hydrocephalus.[1][6] In some cases additional abnormalities may be present, such as ventriculomegaly (enlarged ventricles), and supratentorial abnormalities.[2]

Diagnosis

Rhombencephalosynapsis can be detected on imaging of the fetus. It is one of the triad of features characteristic of Gomez-Lopez-Hernandez syndrome (GLHS). When detected, signs of GLHS ought to be looked for on post-natal review. Signs include partial alopecia and some facial peculiarities.[7] It is thought that due to the co-occurrence of these two disorders they may have a common etiology.[7]

As a feature of GLHS one case study has shown GLHS to co-occur with autism spectrum disorder.[4]

Epidemiology

As of 2018 only 36 cases of GLHS have been reported.[4]

History

The first case was reported by Heinrich Obersteiner in 1914.[8]

References

  1. 1 2 3 4 Cotes, C; et al. (June 2015). "Congenital basis of posterior fossa anomalies". The Neuroradiology Journal. 28 (3): 238–53. doi:10.1177/1971400915576665. PMC 4757284. PMID 26246090.
  2. 1 2 Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WC, Bast T, et al. (August 2002). "Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children". Neuropediatrics. 33 (4): 209–14. doi:10.1055/s-2002-34498. PMID 12368992.
  3. ↑ Fernández-Jaén A, Fernández-Mayoralas DM, Calleja-Pérez B, Muñoz-Jareño N, Moreno N (January 2009). "Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature". Pediatric Neurology. 40 (1): 58–62. doi:10.1016/j.pediatrneurol.2008.10.001. PMID 19068257.
  4. 1 2 3 Kotetishvili B, Makashvili M, Okujava M, Kotetishvili A, Kopadze T (August 2018). "Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature". Intractable & Rare Diseases Research. 7 (3): 191–195. doi:10.5582/irdr.2018.01062. PMC 6119670. PMID 30181940.
  5. ↑ Mak, CCY; et al. (13 December 2019). "MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis". Brain: A Journal of Neurology. 143 (1): 55–68. doi:10.1093/brain/awz379. PMC 7962909. PMID 31834374.
  6. ↑ Aldinger, KA; et al. (December 2018). "Rhombencephalosynapsis: Fused cerebellum, confused geneticists". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178 (4): 432–439. doi:10.1002/ajmg.c.31666. PMC 6540982. PMID 30580482.
  7. 1 2 Tan TY, McGillivray G, Goergen SK, White SM (November 2005). "Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature". American Journal of Medical Genetics. Part A. 138 (4): 369–73. doi:10.1002/ajmg.a.30967. PMID 16158443. S2CID 11532423.
  8. ↑ Truwit, CL; et al. (1991). "MR imaging of rhombencephalosynapsis: report of three cases and review of the literature". AJNR. American Journal of Neuroradiology. 12 (5): 957–65. PMC 8333516. PMID 1950929.
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