A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen
Maher Muneer, Anas Al-Kubati, Asma’a Al-Ghashm, Laila Albaseer, Bilal Sleiay, Abdullah Alkubati, Majed Shallan, Betoul Mohammad Alhofari, Laila Salama Daas · 2025
Read A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen by Maher Muneer, Anas Al-Kubati, Asma’a Al-Ghashm, Laila Albaseer, Bilal Sleiay, Abdullah Alkubati, Majed Shallan, Betoul Mohammad Alhofari, Laila Salama Daas (2025) 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-12739088.txt.
Description
Maher Muneer and co-authors report the case of a ten-year-old boy in Yemen with a rare inherited disorder, in a 2025 paper. The disorder, ataxia-telangiectasia, stems from faults in a gene called ATM. It brings worsening balance problems, small widened blood vessels in the eyes and skin, repeated chest infections, and a raised cancer risk. Only one or two babies in every hundred thousand are born with it.
The boy had suffered repeated chest infections and growing unsteadiness since age four, and his eyes showed the tell-tale vessels. Blood tests found a high level of a marker protein and low levels of protective antibodies. Scans showed shrinkage of the balance center of the brain and a patch of lung infection. Together the signs confirmed the diagnosis. The authors review how the disease is recognised, stressing that clinics with few resources can still piece it together.
Catalog record
| CREATOR | Maher Muneer, Anas Al-Kubati, Asma’a Al-Ghashm, Laila Albaseer, Bilal Sleiay, Abdullah Alkubati, Majed Shallan, Betoul Mohammad Alhofari, Laila Salama Daas |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 13 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |