Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report
Abdelrahim A. Sadek, Mohammed A. Aladawy, Khaled Hassan, Tarek M. M. Mansour, Mohamed Naser, Mohamed M. Elmoursy, Sohieb Hedewy, Ahmed Hagag, Kawashty Ragab Mohamed, Elsayed Abdelkreem · 2026
Read Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report by Abdelrahim A. Sadek, Mohammed A. Aladawy, Khaled Hassan, Tarek M. M. Mansour, Mohamed Naser, Mohamed M. Elmoursy, Sohieb Hedewy, Ahmed Hagag, Kawashty Ragab Mohamed, Elsayed Abdelkreem (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-13182054.txt.
Description
Abdelrahim Sadek, Mohammed Aladawy, Khaled Hassan, and seven colleagues report a rare gene disorder in a boy in this two thousand twenty-six case report. Peroxisome biogenesis disorders stop the cell from building working peroxisomes, and the damage spreads across many organs. The six-year-old, born to first-cousin parents in Egypt, had early low muscle tone, then lost ground in movement and thought from age three. He stopped paying attention to sights and lost his hearing.
Eye exams showed both optic nerves had wasted away, and MRI found bright spots in brain white matter. Gene testing found the cause: a small deletion in the PEX12 gene, on both copies. The same change has been seen almost only in Egyptian patients, hinting at a founder effect. The case adds optic nerve damage to the picture of this variant and places the boy on the Zellweger spectrum.
Catalog record
| CREATOR | Abdelrahim A. Sadek, Mohammed A. Aladawy, Khaled Hassan, Tarek M. M. Mansour, Mohamed Naser, Mohamed M. Elmoursy, Sohieb Hedewy, Ahmed Hagag, Kawashty Ragab Mohamed, Elsayed Abdelkreem |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 28 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |