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Atypical presentation of atypical teratoid rhabdoid tumor in a child
Y T Udaka1, K Shayan, N A Chuang
1The Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, 3020 Children's Way, San Diego, CA 92123, USA.
Insights
A rare brain tumor, Atypical Teratoid Rhabdoid Tumor (ATRT), presented unusually in an 11-year-old boy, mimicking a low-grade glioma. This case highlights ATRT
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Pathology
Background:
- Atypical Teratoid Rhabdoid Tumor (ATRT) is a rare, aggressive brain tumor predominantly affecting young children.
- Clinical and radiographic presentation of ATRT can be variable, sometimes mimicking other intracranial neoplasms.
Purpose of the Study:
- To report a unique case of ATRT in an older child.
- To emphasize the diagnostic challenges and diverse clinical manifestations of ATRT.
Main Methods:
- Case report of an 11-year-old male with a prolonged history of neurological decline.
- Magnetic resonance imaging (MRI) for tumor visualization.
- Histopathological examination and immunohistochemistry (INI-1 staining) for definitive diagnosis.
Main Results:
- The patient presented with progressive neurological deficits and cachexia over 1.5 years.
- Neuroimaging revealed a large, heterogeneous lower brainstem mass.
- Pathology confirmed ATRT, characterized by hypercellularity, prominent nucleoli, and loss of INI-1 expression.
Conclusions:
- ATRT can present in older children with symptoms mimicking low-grade gliomas.
- Early and accurate diagnosis through combined clinical, imaging, and pathological evaluation is crucial for ATRT management.
- This case underscores the importance of considering ATRT in the differential diagnosis of pediatric brain tumors with atypical presentations.
Abstract:
Atypical Teratoid Rhabdoid Tumor (ATRT) is a rare malignant intracranial neoplasm more commonly diagnosed in young children. The authors report the case of an 11-year-old boy with a long standing history of slowly progressive weight loss, fatigue, and weakness over 1.5 years whose magnetic resonance imaging revealed a large heterogeneous enhancing dorsally exophytic lower brainstem mass. Examination revealed extreme cachexia, gaze-evoked nystagmus, dysphagia, dysarthria, bilateral dysmetria, and global weakness without ambulation. The protracted history and neuroimaging features were most suggestive of a low grade glioma. However, pathology revealed a hypercellular tumor with large hyperchromatic nucleoli and loss of INI-1 staining on immunohistochemistry consistent with a diagnosis of an ATRT. The child died shortly after surgery due to complications from his brainstem infiltrative disease. This case illustrates the diverse presentation of ATRT in childhood that can clinically and radiographically mimic that of low grade glioma.
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