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Journal of Pediatric Neurology 2022; 20(06): 410-414
DOI: 10.1055/s-0041-1742251
Case Report

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

Kenichiro Kobayashi 
1   Department of Pediatric Hematology and Oncology, Hyogo Prefectural Amagasaki General Medical Center, Japan
2   Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Kuniaki Tanaka
1   Department of Pediatric Hematology and Oncology, Hyogo Prefectural Amagasaki General Medical Center, Japan
2   Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Atsushi Iwai
1   Department of Pediatric Hematology and Oncology, Hyogo Prefectural Amagasaki General Medical Center, Japan
2   Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Junya Taki
3   Department of Neurosurgery, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Masashi Kitagawa
3   Department of Neurosurgery, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Tomoko Hayashi
3   Department of Neurosurgery, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Sadatoshi Tsuzuki
4   Department of Pathology, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Tetsuro Yamamoto
4   Department of Pathology, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Takako Yoshioka
5   Department of Pathology, National Research Institute for Child Health and Development, Japan
,
Junko Hirato
6   Department of Pathology, Public Tomioka General Hospital, Japan
,
Toshiro Maihara
2   Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Keisuke Yamada
3   Department of Neurosurgery, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Ikuya Usami
1   Department of Pediatric Hematology and Oncology, Hyogo Prefectural Amagasaki General Medical Center, Japan
2   Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Japan
,
Toshio Heike
2   Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Japan
› Author Affiliations Funding None.
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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.




Publication History

Received: 05 November 2021

Accepted: 26 December 2021

Article published online:
21 January 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
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