A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
| Dates | Relevant past medical history and intervention | ||
|---|---|---|---|
| 16.05.2017 | 8 years old boy who is a product of full term pregnancy, referred to the immunology clinic to role out any associated with primary immunodeficiency. Patient with history wide ataxic and failure to thrive. | ||
| Date | Summaries initial and follow-up visits | Diagnostic testing (including dates) | Interventions |
| 2015-2016 | During the whole years of 2016 patient have 6-7 episodes of upper respiratory tract infection | No exact date or specific test or other investigation that parent can recall (patient from outside Riyadh). | None |
| 2016 | History of diarrhea on and off in year 2016 | No exact or specific test or other investigation that parent can recall (patient from outside Riyadh | None |
| 26.04.2017 | History wide ataxic gait | MRI Brain shows mild atrophic changes within the hemispheres | None (follow-up in the clinic) |
| 16.05.2017 | Because of history of recurrent URTI as past medical history | Blood sent for FBC and differential which showed normal WBCs count and normal diff Serum immunoglobulin level: IgM=1.26g/l, IgG=10.2g/l l and Ig A=<0.25g/l | None |
| 14.06.2017 | For the above history ataxia telangiectasia need to rolled out | Blood sent or molecular genetics study which showed premature stop codon variant (c.5944C>T, p Gln1982*) | Genetic counseling for the parents |
MRI - magnetic resonance imaging, FBC - Full Blood Count, IgA - immunoglobulin A, IgG - immunoglobulin G, IgM - immunoglobulin M, URTI - upper respiratory tract infection, WBC - White Blood Cell