Intracranial calcifications in DEGS1-Related Leukodystrophy: a potentially under-recognised neuroimaging feature
Ylenia Vaia, Neena Kim, Sharmila Jeyasingh, Sniya Sudhakar, Kshitij Mankad, Asthik Biswas, Ata Siddiqui, Helen Mundy, Tammy Hedderly, Rahul R Singh · 2026
Read Intracranial calcifications in DEGS1-Related Leukodystrophy: a potentially under-recognised neuroimaging feature by Ylenia Vaia, Neena Kim, Sharmila Jeyasingh, Sniya Sudhakar, Kshitij Mankad, Asthik Biswas, Ata Siddiqui, Helen Mundy, Tammy Hedderly, Rahul R Singh (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13246557.txt.
Description
Vaia, Kim, Jeyasingh, and co-authors report an infant's case that widens the picture of a rare brain disorder, in this 2026 Neurological Sciences brief report. DEGS1-related leukodystrophy comes from a faulty gene for making fatty molecules the brain's insulation, myelin, depends on. Their patient showed abnormal eye movements and halted development early, with weak muscle tone, severe feeding trouble, and stubborn epilepsy.
Brain scans showed poor myelination, a thin corpus callosum, and cerebellar involvement, as expected. Unexpectedly, scans also revealed calcium deposits inside the cerebellum and scattered spots elsewhere, a feature not previously tied to this disease. The authors propose that such calcifications may serve as a diagnostic clue in infants with similar presentations.
Catalog record
| CREATOR | Ylenia Vaia, Neena Kim, Sharmila Jeyasingh, Sniya Sudhakar, Kshitij Mankad, Asthik Biswas, Ata Siddiqui, Helen Mundy, Tammy Hedderly, Rahul R Singh |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 12 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |