A 28-year-old man presents with progressive headache, truncal ataxia, and bilateral papilloedema. Haemoglobin is 18 g/dL and haematocrit 54 percent. MRI shows a cystic cerebellar lesion with an intensely enhancing mural nodule. What is the most likely diagnosis?

• A Medulloblastoma
• B Ependymoma
• C Pilocytic astrocytoma
• D Haemangioblastoma ✓

Explanation

Cerebellar haemangioblastoma is strongly associated with von Hippel-Lindau disease. The stromal cells produce erythropoietin, causing secondary polycythaemia, a classic discriminating clue. It appears as a cyst with a vascular enhancing mural nodule, mimicking pilocytic astrocytoma radiologically. Pilocytic astrocytoma occurs mainly in children under 15 years and does not raise haemoglobin. Medulloblastoma is a solid midline vermian mass that seeds CSF, while ependymoma arises from the fourth ventricle floor.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.