top of page
Asian Institute of Research, Journal Publication, Journal Academics, Education Journal, Asian Institute
Asian Institute of Research, Journal Publication, Journal Academics, Education Journal, Asian Institute

Journal of Health and Medical Sciences

ISSN 2622-7258

Screen Shot 2018-08-12 at 1.24.09 AM.png
Screen Shot 2018-08-12 at 1.24.02 AM.png
Screen Shot 2018-08-12 at 1.23.57 AM.png
Screen Shot 2018-08-12 at 1.23.52 AM.png
crossref
doi
open access

Published: 28 March 2023

Beyond Childhood: Joubert Syndrome in a 34-Year-Old Female – A Case Report

Alwyn John Jamandre, Manolo Kristoffer Flores, John Harold Hiyadan, Cay Anne Melecio-Jamandre

Baguio General Hospital and Medical Center (Philippines), Dr. Paulino J. Garcia Memorial Research and Medical Center (Philippines)

journal of social and political sciences
pdf download

Download Full-Text Pdf

doi

10.31014/aior.1994.06.01.261

Pages: 71-75

Keywords: Joubert Syndrome, Molar Tooth Sign

Abstract

A 34 years old female presented with developmental delay, hypotonia, ataxia, oculomotor apraxia, and intellectual disability. Cranial magnetic resonance imaging (MRI) revealed molar tooth sign (MTS) which is pathognomonic for Joubert Syndrome (JS). Joubert syndrome is a congenital autosomal recessive disorder that affects the area of the brain responsible for balance and coordination. Most cases are diagnosed in the neonatal period and most do not survive into adulthood. We report a case of Classic JS diagnosed in an adult, a first in our institution.

References

  1. Al-Smair A., Younes S., Saadeh O., Saadeh A., Al-Ali A. (2022). Adult Presentation of Joubert Syndrome Presenting With Dysphagia: A Case Report. Cureus. https://doi.org/10.7759/cureus.24226

  2. Akhtar, A., Hassan, S.A., Falah, N.U., Khan, M., Sheikh, F.N. (2019). Joubert Syndrome: A Rare Radiological Case. Cureus. https://doi.org/10.7759/cureus.6410

  3. Bachmann-Gagescu, R., Dempsey, J.C., Bulgheroni, S., Chen, M.L., D’Arrigo, S., Glass, I.A., Heller, T., Héon, E., Hildebrandt, F., Joshi, N., Knutzen, D., Kroes, H.Y., Mack, S.H., Nuovo, S., Parisi M.A., Snow, J., Summers, A.C., Symons, J.M., Zein, W.M., … Doherty, D. (2019). Healthcare recommendations for Joubert Syndrome. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.61399

  4. Bainade K.S., Kotreshetti V.A., Sonawane V.B., Vatakar A., Bhatarkar S.R. (2020). Joubert’s syndrome: a case report. International Journal of Contemporary Pediatrics 7(10):2068-2071. https://doi.org/10.18203/2349-3291.ijcp20204053

  5. Brancati, F., Dallapiccola, B., Valente E.M. (2010). Joubert Syndrome and related disorders. Orphanet Journal of Rare Diseases, 5:20. https://doi.org/10.1186/1750-1172-5:20

  6. Choh, S., Choh, N., Bhat, S., Jehangir, M. (2009). MRI Findings in Joubert Syndrome. Indian Journal of Pediatrics. https://doi.org/10.1007/s12098-008-0232-1

  7. Elhassanien A., Alghaiaty H. (2013). Joubert syndrome: Clinical and radiological characteristics of nine patients. Annals of Indian Academy of Neurology, 19(2) 239-244. https://doi.org/10.4103/0972-2327.112480

  8. Kendall, B., Kingsley, D., Lambert, S.R., Taylor, D., Finn, P. (1990). Joubert syndrome: a clinic-radiological study. Neuroradiology 31:502-506. https://doi.org/10.1007/BF00340131

bottom of page