Case report – when symptoms (do not) mislead

Abstract

Introduction: Tumors of the central nervous system are the most common solid tumors in childhood, with glial and embryonal tumors being the most prevalent. Clinical presentation is often nonspecific and depends on the child’s age and tumor location. Diagnosis relies on neuroradiological evaluation (magnetic resonance imaging and computed tomography), as well as histopathological and molecular tumor analysis. Early recognition of symptoms is crucial for timely treatment, improved outcomes, and quality of life.

Case presentation: The first case involves a seven-year-old girl presenting with ataxia, headache, and visual disturbances. Imaging revealed a tumor in the fourth ventricle with hypertensive hydrocephalus, and methylation profiling confirmed medulloblastoma (group 4, subclass 6). The second case is a twelve-year-old boy with frontal headaches and morning vomiting. MRI of the brain and spine showed a tumor in the fourth ventricle with metastases, and molecular analysis confirmed medulloblastoma (group 4, subtype V). The third case concerns a seventeen-year-old girl with fatigue, weight loss, and secondary amenorrhea. Imaging demonstrated a tumor in the suprasellar and pineal regions with a solitary intracranial metastasis, leading to the diagnosis of metastatic bifocal germinoma with negative tumor markers.

Conclusion: Evaluation of children with suspected CNS tumors must be systematic, including thorough neurological examination, monitoring of growth and head circumference in younger children, and assessment of pubertal status. The combination of these clinical features warrants prompt neuroradiological evaluation for early detection and initiation of appropriate oncological treatment.