Xiaoting Wang1, Michael Kmeid1, Arayamparambil Anilkumar2
1Neurology, SUNY Upstate Medical University, 2Upstate Medical University, Dept of Neurology
Objective:
Neuroblastoma is classically associated with Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS); however, isolated gait instability and intention tremor without other hallmark symptoms and absence of elevated urine catecholamine metabolites posed challenges to the clinical diagnosis. Our case highlights the atypical clinical presentation of paraspinal ganglioneuroblastoma.
Background:
Paraspinal ganglioneuroblastoma is a rare neoplasm arising from the sympathetic nervous system, possessing intermediate malignant potential. It predominantly occurs in the thorax, unlike neuroblastoma, which more commonly arises in the abdomen. MRI are usually used to identify tumor location and extent, and histopathological examination is essential for diagnosis. Early diagnosis and intervention are critical for improving clinical outcomes, but atypical presentations may delay diagnosis.
Results:
An 18-month-old male presented with acute onset of gait instability, characterized by a wide-based stance, truncal ataxia, frequent falls, and intention tremor. There were no abnormal eye movements. Initial evaluations including extensive infectious, autoimmune, and metabolic workups, did not yield a definitive cause of his ataxia. Repeated random urine catecholamine metabolites were negative. MRI of the thoracic spine revealed an enhancing mass in the left paraspinal region medial to the left hemidiaphragm, and posterior to the aorta, without evidence of spinal cord compression. The patient underwent surgical resection of the mass. Pathological analysis identified poorly differentiated ganglioneuroblastoma. The patient received treatment with rituximab, intravenous immunoglobulin, and dexamethasone.
Conclusions:
This case highlights the diagnostic challenges of atypical neuroblastoma subtypes, like ganglioneuroblastoma, especially without classic symptoms or biochemical markers. Clinicians should maintain a high index of suspicion for neuroblastoma variants in pediatric patients with isolated neurological symptoms to ensure prompt diagnosis and treatment.
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