Published online Oct 6, 2020. doi: 10.12998/wjcc.v8.i19.4558
Peer-review started: June 1, 2020
First decision: July 25, 2020
Revised: July 29, 2020
Accepted: August 29, 2020
Article in press: August 29, 2020
Published online: October 6, 2020
Processing time: 118 Days and 13.7 Hours
The early diagnosis of basal ganglia and thalamus germinomas is often difficult due to the absence of elevated tumor markers, and atypical clinical symptoms and neuroimaging features.
Four male children aged 8 to 15 years were diagnosed with germinomas in the basal ganglia and thalamus by stereotactic biopsy from 2017 to 2019. All patients developed hemiplegia except patient 4 who also had cognitive decline, speech disturbance, nocturnal enuresis, polydipsia, polyuria, precocious puberty and abnormalities of thermoregulation. All four cases were alpha-fetoprotein and beta-human chorionic gonadotrophin (β-HCG) negative except patient 3 who had slightly elevated β-HCG in cerebrospinal fluid (CSF). No malignant cells were detected in the patients’ CSF. Brain magnetic resonance imaging findings were diverse in these patients with the exception of the unique and common characteristics of ipsilateral hemisphere atrophy, especially in the cerebral peduncle. All patients were diagnosed with germinomas of the basal ganglia and thalamus by stereotactic brain biopsy.
Stereotactic brain biopsy is necessary to confirm the diagnosis of ectopic germinomas. Serial neuroimaging studies can not only differentiate disease but also determine the biopsy site.
Core Tip: Basal ganglia and thalamus germinomas are rare and early diagnosis of these tumors is usually difficult due to insidious onset, absence of elevated tumor markers, and subtle and atypical neuroimaging features. The definite diagnosis of these ectopic germinomas depends on histopathological examination. In this report, we describe four intractable cases whose histopathological diagnoses were germinomas in the basal ganglia and thalamus. Ipsilateral hemiatrophy, which was a common characteristic on neuroimaging of germinomas in the basal ganglia and thalamus, may be an important feature in differentiating these lesions from other intracranial tumors.