Spinal muscular atrophy and acute lymphoblastic leukemia - is it just a coincidence?

Abstract

Introduction. Spinal muscular atrophy (SMA) and acute lymphoblastic leukemia (ALL) are rare diseases, with usual onset in childhood. To date, no cases have been reported where these conditions co-exist in one patient. Nusinersen has not been used concurrently with chemotherapy for ALL in children. The aim of the paper is to present two patients with two rare diseases and the results of their therapy. Outline of cases. We describe two patients diagnosed with SMA and ALL. The first patient received nusinersen, while the second did not receive SMA treatment. ALL in both patients was successfully cured by the appropriate treatment protocol. In the first patient, nusinersen was temporarily discontinued but restarted during the maintenance phase of chemotherapy. The chemotherapy regimen in the first patient was modified during the maintenance of ALL treatment. Conclusion. The concomitant use of nusinersen and chemotherapy for ALL in our first case was safe, demonstrating good efficacy and tolerance without significant interactions or adverse events. We consider the occurrence of ALL and SMA in our both patients to be just coincidental; however further research is needed to clarify many dilemmas about potential connections between these two rare diseases.

Keywords

• rare disease
• nusinersen
• chemotherapy
• concomitant