Presenting features and imaging in childhood acute myeloid leukemia with central nervous system involvement

Abstract

Central nervous system (CNS) involvement in childhood acute myeloid leukemia (AML) can manifest as leukemic cells in the cerebrospinal fluid, a solid CNS tumor, or as neurological symptoms.We evaluated the presenting symptoms and neuroimaging findings in 33 of 34 children with AML and CNS involvement at diagnosis in the period 2000-2012 in Sweden, Finland, and Denmark.Imaging was performed in 22 patients, of whom 16 had CNS-related symptoms. Seven patients, including all but two with facial palsy, had mastoid cell opacification, considered an incidental finding. The frequent involvement of the mastoid bone with facial palsy warrants evaluation in larger series.

RUNX1-RUNX1T1-positive acute myeloid leukaemia presenting as bilateral proptosis and multiple cranial nerve palsy

“…Facial nerve was the most common cranial nerve involved 2. Intracranial solid tumours similar to our patient were seen in 2 out of the 22 patients who had neuroimaging available in this study 2. Our patient had bulbar palsy and sensorineural hearing loss in addition to facial nerve palsy which was distinctive.…”

“…Of 33 patients identified with CNS-positive AML in a Nordic study, 58% presented with neurological symptoms 2. Facial nerve was the most common cranial nerve involved 2. Intracranial solid tumours similar to our patient were seen in 2 out of the 22 patients who had neuroimaging available in this study 2.…”

“…CNS involvement in AML can occur in 6%–29% of children with AML 5. CNS-positive AML may present with neurological symptoms such as headache, visual disturbance, cranial nerve palsies or cord compression; leptomeningeal infiltration; intracranial solid tumours or asymptomatic detection of leukaemic cells in the CSF 2. The index patient had extramedullary involvement of the orbit and CNS.…”

“…Our patient was 9 years old, did not have hepatosplenomegaly and his CSF cytology did not reveal blasts. Of 33 patients identified with CNS-positive AML in a Nordic study, 58% presented with neurological symptoms 2. Facial nerve was the most common cranial nerve involved 2.…”

“…MS may predate or present concomitantly with AML 1. Extramedullary involvement of the central nervous system (CNS) in paediatric AML is commonly described with M4, M5 types (French–American–British classification) and the chromosomal aberration inv(16) 2. The cytogenetic aberration t(8,21) resulting in the fusion gene RUNX1-RUNX1T1 has been associated with increased incidence of MS, particularly in the orbits and the CNS 1 3.…”