Radiographic occult cerebellar germinoma presenting with progressive ataxia and cranial nerve palsy

Abstract

BackgroundAlthough the usefulness of susceptibility-weighted imaging (SWI) for detecting basal ganglia germinoma has been reported, the technique is not widely used. We recently encountered an unusual case of primary cerebellar germinoma, presenting with progressive ataxia and cranial nerve palsy, characterized by gradually enlarging low-intensity lesions visible with both T2*-weighted imaging (T2*WI), which were the key to the diagnosis.Case presentationA 30-year-old man was referred to our hospital because of slowly progressive dizziness and mild ataxia. Magnetic resonance imaging (MRI) revealed a small, low-intensity spot in the left cerebellar peduncle on the T2*WI and SWI without enhancement. Cerebral angiography revealed no vascular abnormality. The serum α-fetoprotein value was normal. A steroid-pulse was administered as a therapeutic and diagnostic trial, but the symptoms improved little. The patient was discharged from the hospital but soon developed brainstem dysfunction, characterized by dyspnea or hiccups, and he was readmitted. T2*WI imaging revealed expanded and extended spotty lesions in the cerebellum and brainstem, which had not enhanced with contrast agent previously. Targeted stereotactic biopsy of the newly enhanced cerebellar lesion was performed; histopathological examination of the tissue revealed pure germinoma. Serum and cerebral spinal fluid values of beta-human chorionic gonadotropin were not significantly elevated. Chemotherapy with carboplatin and etoposide was initiated. The enhanced lesion disappeared promptly, but the patient continued to require assisted automatic ventilation because of paralysis of respiratory muscles.ConclusionsWe conclude that enlarging low-intensity lesions on T2*WI and SWI may be a reliable clue to the diagnosis of germinomas, irrespective of their location, even without enhancement. Biopsy of the tumor at an early stage is the only way to make the diagnosis conclusively and enable prompt start of treatment.Electronic supplementary materialThe online version of this article (doi:10.1186/s12883-015-0516-9) contains supplementary material, which is available to authorized users.

Occult Germinoma of the Intramedullary Spinal Cord: A Case Report

“…Primary CNS germinomas that exhibit the characteristic course of occult germinoma have been reported along with neurohypophysis, for example, occult cerebellar germinoma with ataxia and cranial nerve palsy. 9,10) In the current case, the patient's symptoms began with sensory disturbance in the lower limbs, which was exacerbated by paralysis and bladder and rectal disturbances. Despite repeated examinations at several medical institutions, no clear diagnosis was made.…”

Imaging response assessment for CNS germ cell tumours: consensus recommendations from the European Society for Paediatric Oncology Brain Tumour Group and North American Children's Oncology Group

“…CNS GCT arise predominantly in midline, supratentorial locations, particularly suprasellar (30-40% of cases) and pineal (50-60%) regions; 6 however, about 6-10% of these neoplasms arise in off-midline intracranial structures, usually comprising the thalamus and/or basal ganglia, 7,8 and much more rarely the cerebellum. 9,10 In addition, primary spinal cord GCT may very rarely occur. 11,12 For most CNS tumours, histological confirmation represents the gold standard for accurate characterisation; however, current international consensus on the management of CNS GCT maintains that patients with consistent radiological imaging and 'secreting' tumours, [namely alphafetoprotein (AFP) and/or human chorionic gonadotropin (HCG) elevation in the serum and/or cerebrospinal fluid (CSF) above defined thresholds], do not require surgical biopsy, and NGGCT treatment may be initiated without histological verification.…”

Middle cerebral artery pressure laterality in patients with symptomatic ICA stenosis

“…If ΔP MCA is an important indicator of disturbed hemodynamics, as suggested in our study, and the CFD analysis to estimate it is unavailable, then the ICA flow laterality is the most reliable indication of this with respect to flow. This is of clinical importance since the degree of stenosis is alone insufficient to characterize the hemodynamic disturbance [ 23 , 28 ].…”

“…For patients with bilateral stenoses, the MCA pressure was probably decreased on both sides, potentially reducing the ΔP MCA , in spite of a distinct bilateral hemodynamic disturbance [ 32 ]. For these patients, collaterals might have been recruited from the posterior circulation [ 28 , 33 ], and a similar CFD analysis between MCA and PCA perfusion pressure could be useful.…”