title: Atypical teratoid/rhabdoid tumor (ATRT) arising from the 3rd cranial nerve in infants: a clinical-radiological entity?
abstract: Atypical teratoid/rhabdoid tumor (ATRT) is a rare embryonal tumor of the central nervous system with preponderance in very young children, the majority of whom are younger than 3 years of age at diagnosis. Historically, outcomes of this aggressive disease, even with extensive multimodal therapy, have been dismal. Recent improvements have come from therapies directed exclusively towards ATRT, but misdiagnosis or delays in the correct diagnosis lead to significantly worse survival rates. ATRTs most commonly occur supratentorially but have been described in virtually all central nervous system locations, including the cerebellopontine angle cistern, meninges, and spinal canal, and extradural locations. ATRTs originating from cranial nerves are rare. Here, we describe three cases of solitary ATRT arising from the 3rd cranial nerve (CN III) or close to its origin in the midbrain, all of which presented in patients within 6 months of birth, with isolated unilateral oculomotor nerve palsy and strikingly similar magnetic resonance imaging (MRI) features. These MRI features include IV contrast enhancement, relative T2 hyposignal, and restricted water diffusion on apparent diffusion coefficient images, findings which are consistent with angiogenesis and high cellularity, and hence, suggestive of malignancy. We conclude that ATRT should be placed high on the differential diagnosis list when encountering a young infant presenting with isolated, unilateral 3rd nerve palsy and a small, solitary tumor arising from CN III that demonstrates malignant conventional and diffusion-weighted imaging features on MRI.
authors.affiliation: Department of Radiological Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.|Department of Radiology, University of Tennessee Health Sciences Center, Memphis, TN, USA.
authors.forename: Christopher C
authors.initials: CC
authors.lastname: Oh
authors.affiliation: Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Brent A
authors.initials: BA
authors.lastname: Orr
authors.affiliation: Department of Neuroradiology, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Bernardi
authors.affiliation: Neurooncology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Garré
authors.affiliation: Neurooncology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.affiliation: Department of Neuroradiology, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Figà-Talamanca
authors.affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Giles W
authors.initials: GW
authors.lastname: Robinson
authors.affiliation: Department of Radiological Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA. zoltanppatay@stjude.org.
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Patay
mesh_terms: D003390:Cranial Nerve Neoplasms / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D018335:Rhabdoid Tumor / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D013724:Teratoma / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy
keywords: Atypical teratoid rhabdoid tumor; CN III; Diffusion-weighted imaging; Magnetic resonance imaging; Oculomotor nerve palsy