A 52-year-old man presented with a 2-month history of progressive unsteadiness in erect posture and walking. He had experienced a right facial paralysis resolved with high-dose steroids 4 months earlier. A neurological examination revealed left seventh nerve paresis, right-sided dysmetria, right deviation of the oral rhyme, and gait ataxia. The patient’s medical history included right nephrectomy for renal clear cell carcinoma and a surgically treated congenital arteriovenous malformation of the right hand. No significant family history was present. Magnetic resonance imaging results revealed an intraaxial mass with poorly defined margins and occasional calcifications, 7 cm in diameter, in the right cerebellar hemisphere involving the vermis eliciting a mass effect on the intravenous ventricle. Magnetic resonance imaging depicted enlarged cerebellar folia with alternating T1-hypointense and T2-hyperintense tiger-striped striations (Figure 1), which were highly suggestive of cerebellar dysplastic gangliocytoma/Lhermitte-Duclos disease (LDD). A coexistent cervical syringomyelia was also identified. The mass was partially removed and numerous fragments of cerebellar cortex were examined. A pathologic evaluation confirmed the diagnosis, showing the molecular and internal granular layers enlarged and replaced by large, dysplastic ganglion cells with abundant, eosinophilic cytoplasm, round and vesicular nucleus, and occasionally evident nucleolus (Figure 2). Immunohistochemical positivity for synaptophysin confirmed the neuronal differentiation of the abnormal cells. Following surgery, the patient showed a partial resolution of his neurological symptoms.
Zanelli M, Mengoli MC, Froio E. Appearance of an Unusual Cerebellar Lesion. JAMA Neurol. 2018;75(4):510–511. doi:10.1001/jamaneurol.2017.4726
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