Primary Diffuse Leptomeningeal Atypical Teratoid/Rhabdoid Tumor Initially Masquerading as Guillain–Barré Syndrome: A Case Report and Literature Review

Abstract

A 10-year-old male child patient was admitted with a chief complaint of progression of lower limb weakness lasting for 5 weeks. An initial clinical picture was reminiscent of Guillain–Barré syndrome. Repeated cerebrospinal fluid (CSF) cytological examinations were negative for neoplastic cells, but leptomeningeal biopsy targeting positron emission tomography (PET) avid lesion confirmed the invasion of tumor cells which were negatively stained with Brahma-related gene 1. An extensive literature review identified five cases of primary diffuse leptomeningeal atypical teratoid/rhabdoid tumors, and the clinical characteristics, including ours, were characterized as follows: (1) there was a bimodal age distribution in young children and adolescents with a male predominance, (2) roughly half of the patients fulfilled the diagnostic criteria of albuminocytologic dissociation and CSF cytology was neither sensitive nor specific to establish a definitive diagnosis, and (3) cerebrospinal magnetic resonance imaging findings were mostly indistinguishable from those of infectious or inflammatory diseases. We would like to suggest that primary leptomeningeal tumor should be included in the differential diagnosis of progressive polyneuropathy even in the absence of CSF cytological findings and implementation of preoperative PET may enhance the diagnostic accuracy of such a miscellaneous central nervous system tumor.

Keywords

atypical teratoid/rhabdoid tumor - leptomeningeal - biopsy - differential diagnosis - Guillain–Barré syndrome - positron emission tomography

Ethical Approval

Written informed consent was obtained from legal guardians for the publication of this case report and any accompanying images. The authors affirm that no identifiable images/data of the patients have been utilized in the preparation of the paper.

Authors' Contributions

K.K. conceptualized the research scheme, performed data curation , and wrote the paper; N.T., A.I., J.T., M.K., T.H., S.T., Te.Y., Ta.Y., J.H., T.M., K.Y., and T.H. analyzed data. All authors reviewed and approved the final manuscript.

Publikationsverlauf

Eingereicht: 05. November 2021

Angenommen: 26. Dezember 2021

Artikel online veröffentlicht:
21. Januar 2022

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