Related Experiment Video
Updated: Jun 10, 2026
07:45
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Intracranial calcifications in DEGS1-Related Leukodystrophy: a potentially under-recognised neuroimaging feature
Ylenia Vaia1,2, Neena Kim3, Sharmila Jeyasingh4
1Department of Biomedical and Clinical Sciences, Neuroscience Research Centre, University of Milan, Milan, Italy.
Summary
DEGS1-related leukodystrophy, a rare genetic disorder, presents unique neuroimaging findings including intracranial calcifications. This case highlights the importance of considering these calcifications in diagnosing hypomyelinating disorders.
Area of Science:
- Genetics and Molecular Biology
- Neuroscience
- Biochemistry
Background:
- Pathogenic variants in DEGS1 disrupt sphingolipid homeostasis and oligodendrocyte function, crucial for normal myelination.
- DEGS1 encodes a sphingolipid desaturase vital for ceramide biosynthesis.
- Dysregulation leads to leukodystrophy, affecting brain white matter development.
Purpose of the Study:
- To report a novel case of DEGS1-related leukodystrophy in an infant.
- To characterize the clinical and neuroimaging phenotype, including atypical findings.
- To expand the understanding of DEGS1 deficiency manifestations.
Main Methods:
- Genetic analysis confirmed a homozygous pathogenic variant in DEGS1 (c.337A>C, p.Asn113His).
- Clinical assessment documented developmental arrest, hypotonia, feeding difficulties, and refractory epilepsy.
- Neuroimaging included MRI (evaluating myelination, corpus callosum, cerebellum) and CT (confirming calcifications).
Main Results:
- The infant presented with abnormal eye movements, developmental arrest, hypotonia, feeding issues, and severe epilepsy.
- MRI revealed diffuse abnormal myelination, thin corpus callosum, and cerebellar involvement.
- Atypical findings included cerebellar white matter and supratentorial punctate calcifications, confirmed by CT.
Conclusions:
- DEGS1-related leukodystrophy can present with intracranial calcifications, particularly in the cerebellum, expanding its neuroimaging phenotype.
- These calcifications serve as potential diagnostic clues for congenital hypomyelinating disorders.
- DEGS1 deficiency is associated with a severe clinical course, including profound developmental impairment and early-onset epilepsy.
