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Intracranial germinoma and Down's syndrome--case report
1Department of Surgical Neurology, Yamagata University School of Medicine.
Neurologia Medico-Chirurgica
|March 1, 1992
Summary
A rare intracranial germinoma occurred in a boy with Down syndrome, presenting as hemiparesis. This first-ever reported case highlights the importance of serial imaging for diagnosing brain tumors in this population.
Area of Science:
- Neuro-oncology
- Pediatric Neurology
- Genetics
Background:
- Down syndrome (DS) is associated with an increased risk of certain cancers, but intracranial germinomas are exceptionally rare.
- Germinomas are germ cell tumors that can occur in the brain, often in the pineal or suprasellar regions.
Observation:
- A 9-year-old boy with Down syndrome presented with left hemiparesis, indicating a neurological deficit.
- Initial computed tomographic (CT) scans showed no abnormalities, delaying diagnosis.
- Serial CT imaging was crucial in visualizing the tumor's development in the basal ganglia.
Findings:
- A germinoma was diagnosed in the basal ganglia of the affected child.
- The tumor was treated with subtotal surgical removal followed by irradiation.
- The patient achieved complete tumor remission after treatment.
Implications:
- This case represents the first documented instance of an intracranial germinoma in a patient with Down syndrome.
- The findings underscore the need for heightened vigilance and advanced imaging in pediatric patients with Down syndrome presenting with neurological symptoms.
- Further research may explore potential genetic links or unique presentations of brain tumors in individuals with Down syndrome.