Authors : Dr. Harshendra S. G.; Dr. Pradeep Goudar

Volume/Issue : Volume 10 - 2025, Issue 3 - March

---

Google Scholar : https://tinyurl.com/3ucpfmec

Scribd : https://tinyurl.com/t2spuzbx

DOI : https://doi.org/10.38124/ijisrt/25mar1447

Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.

---

Abstract : This case series explores the rare imaging findings of a shrunken and bright cerebellum in patients diagnosed with Congenital Disorders of Glycosylation Type 1a (CDG-Ia) and Marinesco-Sjogren syndrome (MSS). Both disorders are characterized by autosomal recessive inheritance and are associated with cerebellar atrophy, vermian hypoplasia, and cognitive delays. Magnetic Resonance Imaging (MRI) plays a critical role in diagnosing these conditions. This paper presents two case reports, highlighting characteristic imaging findings and genetic investigations, and discusses the underlying pathophysiology of these rare genetic syndromes.

Keywords : Marinesco-Sjogren Syndrome, Congenital Disorders of Glycosylation, Cerebellar Atrophy, MRI, Genetic Disorders.

References :

1. Haeuptle, M. A., & Kjaergaard, S. (2009). Congenital Disorders of Glycosylation: Clinical Presentation and Genetic Implications. Clinical Genetics, 76(5), 465-472.
2. Smeets, C. J., & Knoers, N. V. (2011). Marinesco-Sjogren Syndrome: A Review of Genetic, Clinical, and Imaging Features. Journal of Child Neurology, 26(2), 123-130.
3. van der Knaap, M. S., & Valk, J. (2014). Magnetic Resonance of Myelination and Myelin Disorders. Springer Science & Business Media.
4. Jaeken, J., & Matthijs, G. (2007). Congenital Disorders of Glycosylation. Annual Review of Genomics and Human Genetics, 8, 261-278.
5. Anheim, M., Lagier-Tourenne, C., Stevanin, G., et al. (2009). Autosomal Recessive Cerebellar Ataxias. Journal of Neurology, Neurosurgery & Psychiatry, 80(5), 529-532.
6. Pouwels, P. J., Vander Knaap, M. S., Hart, A. A., et al. (1999). Quantitative Proton MR Spectroscopy of White Matter Disorders in Children. Radiology, 213(2), 337-344.
7. Dudding-Byth, T., Baxter, A., & Scott, R. (2017). Marinesco-Sjogren Syndrome and Congenital Cataracts: A Review. American Journal of Medical Genetics Part A, 173(3), 652-659.
8. Freeze, H. H., Eklund, E. A., Ng, B. G., & Patterson, M. C. (2014). Neurology of Inherited Glycosylation Disorders. Lancet Neurology, 13(5), 488-500.