# Spontaneous remission of congenital acute megakaryoblastic leukemia in a neonate with down syndrome

## TL;DR

A newborn with Down syndrome and a rare aggressive leukemia experienced a spontaneous remission without treatment.

## Contribution

This case reports a rare instance of spontaneous remission in congenital AMKL associated with Down syndrome.

## Key findings

- The neonate showed spontaneous hematologic remission within 2 months without chemotherapy.
- The case highlights the unique clinical course of AMKL in patients with Down syndrome.
- Spontaneous regression may be a potential phenomenon in congenital leukemia.

## Abstract

Congenital acute megakaryoblastic leukemia (AMKL) is an extremely rare and aggressive malignancy with poor prognosis.

We report a female neonate with Down syndrome (DS) who presented with respiratory distress and hepatomegaly at birth. Laboratory evaluation revealed hyperleukocytosis (253.45 × 109/L) and bone marrow studies confirmed AMKL with trisomy 21. Remarkably, spontaneous hematologic remission occurred within 2 months without chemotherapy.

This case highlights the unique clinical course of DS-associated AMKL and underscores the potential for spontaneous regression in congenital leukemia.