Joubert Syndrome Caused By Novel Mutation in ARMC9 with a Unique Ocular Finding: Case Report & Literature Review
Journal Title: International Journal of Medical Research Professionals - Year 2018, Vol 4, Issue 2
Abstract
Joubert Syndrome is autosomal- recessive disorder affecting the development and maturation of cerebellar vermis and some parts of the brain stem. The diagnosis is usually based on clinical, imaging and genetic testing. JS has diagnostic clinical features and they are (developmental delay, ataxia and hypotonia). In our patient, patient has a global developmental delay and ataxia which meets 2 of the diagnostic clinical features as well as the Molar tooth appearance on MRI. Furthermore, the patient has a unique presentation with asymmetric static ptosis. Genetically, he has a homozygous variant in ARMC9 gene which has been recently described as a causative gene for JS. Asymmetrical ptosis seems to be a good clinical clue in cases of joubert syndrome secondary to mutations in ARMC9 gene
Authors and Affiliations
Danya M. Alsarheed, Mohammad A. Al-Muhaizea
Keywords
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- EP ID EP539920
- DOI 10.21276/ijmrp.2018.4.2.054
- Views 77
- Downloads 0
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