| Presentation preference | Poster presentation |
| Title | NUDT15 mutation in a child with bilateral panuveitis: Genetic predisposition for Azathioprine-induced Alopecia and Pancytopenia |
| Purpose | Azathioprine is a commonly used immunosuppressive agent for non-infectious posterior uveitis. We report a case of alopecia totalis and pancytopenia in a child who was genetically predisposed. |
| Methods | A 13-year-old girl had bilateral panuveitis. Fluorescein angiography showed bilateral choroidal granulomas, and central serous chorioretinopathy in left eye. She had cushingoid facies due to prior oral corticosteroid therapy. Laboratory work up was negative. Oral corticosteroids were started for presumptive ocular sarcoidosis. As steroid sparing agents, methotrexate (15 mg/week) and azathioprine (100 mg/day) were started after a normal baseline hemogram (Hb 13.2 gm/dL, TLC 12000/cumm, platelets 3,10,000/cumm). |
| Results | Vision improved to 6/9. However, 2 weeks after starting azathioprine, she developed complete loss of hair (alopecia totalis), with hyperpigmentation of knuckles. Hb was 8.6 gm/dL, TLC 1700/cumm and platelets 25,000/cumm. Azathioprine was stopped. Injection G-CSF 300 μg was given (2 weeks). Mycophenolate mofetil was added. NUDT15 mutation study revealed homozygous variant. Normalization of hemogram was seen over 1 month (Hb 12 gm/dL, TLC 10440/cumm, platelets 1,99,000/cumm). Reversal of hair growth and knuckle pigmentation was seen over 2 months, with resolution of panuveitis. At 4 months, vision was 6/6 on methotrexate and mycophenolate, with normal hemogram.
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| Conclusion | This case highlights the importance of Azathioprine-induced Alopecia totalis as an early marker of myelosuppression in genetically predisposed patients, and cautions the uveitis specialists to recognize early clinical clues before the dreaded complication of pancytopenia. |
| Conflict of interest | No |
Authors 1
| Last name | BANSAL |
| Initials of first name(s) | R |
| Department | Advanced Eye Centre, PGIMER |
| City | Chandigarh |
| Country | India |
Authors 2
| Last name | Handa |
| Initials of first name(s) | S |
| Department | Advanced Eye Centre, PGIMER |
| City | Chandigarh |
| Country | India |
Authors 3
| Last name | Jindal |
| Initials of first name(s) | A |
| Department | Advanced Pediatric Centre, PGIMER |
| City | Chandigarh |
| Country | India |
