The Shrunken and Bright Cerebellum: A Rare Case Series Report in Congenital Disorders of Glycosylation Type 1a and Marinesco-Sjogren Syndrome
Year: 2025
Type: article
Study design: Case Report
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.
Authors: Harshendra S. G., Pradeep Goudar
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W4409168271