# Bilateral facial palsy as presenting symptom of post-transplant relapsed acute myeloid leukemia treated with venetoclax: a case report and literature review

## TL;DR

A child with leukemia developed facial palsy as a sign of cancer relapse after a stem cell transplant and was successfully treated with venetoclax.

## Contribution

This case report highlights venetoclax-based treatment's efficacy for post-transplant relapsed AML presenting with bilateral facial palsy.

## Key findings

- Bilateral facial palsy was the first sign of extramedullary relapse in a pediatric AML patient post-HSCT.
- Venetoclax combined with chemotherapy achieved complete resolution of the relapse and molecular remission.
- The case supports the use of venetoclax-based intensive chemotherapy for EMR in pediatric AML patients after HSCT.

## Abstract

Extramedullary relapse (EMR) of acute myeloid leukemia (AML) after allogeneic hematopoietic stem cell transplantation (HSCT) is rare and challenging condition, associated with poor outcomes, especially in children. We describe a 5-year-old boy with therapy-related AML who developed bilateral facial palsy as the first sign of EMR, eight months after HSCT. Initial investigations, including bone marrow (BM), cerebrospinal fluid (CSF), and MRI, were inconclusive. Progressive symptoms and rising of minimal residual disease prompted repeated evaluations and, ultimately, led to the diagnosis of a bilateral extramedullary leukemic infiltration. The patient was treated with venetoclax combined with high-dose cytarabine and idarubicin, achieving complete resolution of the EMR and also first-ever molecular remission of the disease, further consolidated with a second HSCT. This case underscores the diagnostic challenges of EMR presenting with neurologic symptoms and supports the feasibility and efficacy of venetoclax-based intensive chemotherapy for EMR, even after prior HSCT, in pediatric AML patients.

The online version contains supplementary material available at 10.1007/s00277-025-06647-w.