Revista de neurología y medicina pediátrica

A Case Report of Atypical Teratoid/Rhabdoid Tumor with Diffuse Leptomeningeal Carcinomatosis and Review of Current Literature

Abstract

Vanessa Baute and Quang Vu

We present a rare case of craniospinal atypical teratoid/rhabdoid tumor (ATRT) with leptomeningeal carcinomatosis in young adult. A previously healthy 25 year old man presented to the hospital after a one week history of intermittent confusion, intractable headache and a single new onset seizure. Two lumbar punctures were completed and both revealed elevated RBC, elevated protein and predominantly lymphocytic pleocytosis. Both lumbar punctures were unrevealing with normal cytology and flow cytometry. Contrasted magnetic resonance imaging (MRI) of the brain revealed extensive intracranial leptomeningeal and cranial nerve enhancement. Contrasted MRI of the spinal cord revealed extensive leptomeningeal and dural enhancement with multifocal areas of nodular mass-like enhancement along the entire spinal cord. Spinal biopsies were performed and a pathological diagnosis of ATRT was made. Aggressive radiotherapy and chemotherapy treatment were started. Unfortunately, the patient expired within 12 months of the initial diagnosis.