History: Young woman with headache
Diagnosis: Dysplastic cerebellar gangliocytoma（小脑发育不良性神经节细胞瘤）
Key points – Dysplastic cerebellar gangliocytoma:
- Best diagnostic clue?
- Widened cerebellar folia with a striated/tigroid appearance on MR (an “Aunt Minnie” for L\’Hermitte Duclos).
- Often unilateral and large, holohemispheric.
- MR sequences:
- Striated appearance of hypo intense with isointense to normal cerebellar tissue.
- Hypo intense to normal cerebellar tissue on T1
- Hyper intense, striated appearance on T2
- No restricted diffusion (if there is, it is T2 shine through as the ADC map is unremarkable).
- Rarely enhance on contrasted T1 images.
- Etiology:
- Multiple hamartomas of the skin, mucosal surfaces, GI tract, bones, eyes, and GU tract.
- Increased risk of breast, thyroid, and endometrial cancer.
- May progress or recur after surgery.
- Mutation results in increased cell size without proliferation.
- Mutation of the PTEN tumor suppressor gene (Chromosome 10)
- The PTEN regulates neuronal size
- WHO Grade I
- Associated with Cowden\’s disease (Multiple hamartoma syndrome)
- Clinical symptoms:
- Headache
- Nausea and vomiting
- Papilledema
- Cerebellar signs:
- Ataxia, dizziness, blurred vision.
- Increased intracranial pressure or hydrocephalus
- Tends to be in young adults, average age of 34. No sex predilection.
- Treatment:
- Surgical resection