Neurotoxicity is a potential adverse effect from chemotherapeutic agents such as cytarabine (Ara-C) when treating children with acute myeloid leukemia (AML). Ara-C is an antineoplastic antimetabolite that, once activated by deoxycytidine kinase, mimics and competes with natural nucleosides to disrupt DNA synthesis. If present in the nervous system, Ara-C can lead to central nervous system (CNS) (e.g., cerebellar syndrome, encephalopathy, necrotizing leukoencephalopathy, and seizures), spinal cord (e.g., myelopathy), and peripheral nerve (e.g., sensory polyneuropathy) symptoms. Although neuroradiologic literature is sparse and variable, unique cases of neurotoxicity continue to occur. We present a 2-year-old male with a history of recurrent infections, leg pain at night, weight loss, and night sweats, who was diagnosed with AML and started on an intrathecal (IT) and intravenous chemotherapy regimen (i.e., Ara-C, daunorubicin, etoposide, and methotrexate). During Intensification II, several days after receiving their fourth dose of IT Ara-C and two weeks after IT methotrexate, the patient developed acute altered mental status, ataxia, and right-sided weakness. MRI brain with and without intravenous contrast showed an atypical expansile region of abnormal signal in the left thalamus, brainstem, temporal lobe, and cerebellum with asymmetric increased perfusion, patchy enhancement, and patchy faint restricted diffusion. There were also patchy non-enhancing areas of white matter signal abnormality and tiny microhemorrhage. MRI of the spine, MR angiography and venography of the brain were normal. The patient’s symptoms gradually improved without intervention with mild residual right-sided weakness and ataxia. Infectious workup was negative. A follow-up brain MRI showed a reduction in the size of lesions. Ara-C was held from the subsequent chemotherapy regimen and symptoms did not recur. This case highlights a unique thalamic and brainstem finding not previously reported in the literature for Ara-C neurotoxicity in pediatric AML. Of the other chemotherapeutic agents, methotrexate (MTX)-induced neurotoxicity remains on the differential, however, such radiographic features are typically characterized by MTX-related leukoencephalopathy of the central white matter, which we do not see in this case. Altogether, Ara-C neurotoxicity should remain on the differential for children with neurological symptoms after receiving this agent. Read More

Meeting name: SPR 2026 Annual Meeting , 2026

Authors: Walters Courtney, Pfeifer Cory, Long Clayton, Retson Laura, Vaughn Jennifer

Keywords: MRI Brain, Neuroradiology, Central Nervous System

Kagami-Ogata syndrome (KOS) is a rare and potentially underdiagnosed imprinting disorder caused by paternal uniparental disomy for chromosome 14 or microdeletions and epimutations involving differentially methylated regions (DMRs) at 14q32.2. Depending on phenotypic expression, KOS may mimic trisomy 18 and asphyxiating thoracic dysplasia. Therefore, awareness is essential for prenatal diagnosis. Coat hanger ribs as seen by x-rays have been reported as s pathognomonic sign but have not been reported prenatally. Herein we present images of the coat hanger ribs as seen by low-dose computerized tomography (CT) as well as detailed imaging of the multiple phenotypic features by ultrasound and MRI of KOS in two cases seen prenatally. Case 1: G1P0 singleton pregnancy had fetal echocardiogram at 25 weeks due to concern for congenital heart disease, thickened nuchal fold and thickened skin of the thoracic wall. The exam showed left superior vena cava draining to coronary sinus, dilated right atrium and right ventricle, total anomalous pulmonary venous return, and hydrops. Skin edema was redemonstrated by follow up US at 29 weeks. Fetal MRI and follow-up US at 32 weeks showed polyhydramnios, diffuse skin edema, prominent cheeks and frontal bossing by 3D US, mild shortening of the ulna and right clubfoot, and a bell-shaped thorax by MRI. Chromosomal microarray was positive for terminal deletion of 14q32.2, consistent with KOS. Coat hanger ribs were present on postnatal x-rays. The patient is G-tube and tracheostomy tube dependent, has global developmental delay, neuromuscular scoliosis, left hip subluxation, wrist contractures and planovalgus feet at the age of 2 ½ years. Case 2: G3P1, singleton pregnancy with negative non-invasive prenatal testing (NIPT). US performed at 29 weeks showed polyhydramnios, clenched hands, and bell-shaped small thorax. Multimodality fetal imagin (US, MRI and CT) at 32 weeks showed a narrowed elongated thorax by US and MRI but ribs were poorly visualized. Additional anomalies included polyhydramnios, rhizomelic bone shortening, clenched hands, and prominent cheeks by 3D US. Low-dose CT showed coat hanger ribs. Postnatal x-rays confirmed coat hanger ribs and other abnormalities. Postnatal genetic testing showed paternal uniparental disomy for chromosome 14, consistent with KOS. The patient has restrictive lung disease due to hypoplastic thoracic cage, hypotonia, scoliosis, developmental delay, and umbilical hernia at 13 months. Read More

Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023

Authors: Goncalves Luis, Patel Mittun, Wermers Josh, Simmons Curtis, Vaughn Jennifer, Pfeifer Cory, Cornejo Patricia

Keywords: kagami-ogata, fetal MRI, fetal CT