Dysplastic Cerebellar Gangliocytoma (DCG)
Last Updated: March 27, 2020
- Also known as Lhermitte-Duclos disease (LDD), the neurologic manifestation of multiple hamartoma and neoplasia syndrome (MHAM) or Cowden syndrome (CS)
- CS + LDD = MHAM + LDD = COLD (Cowden-Lhermitte-Duclos Syndrome), a neurocutaneous syndrome
- Benign cerebellar lesion of uncertain etiology
- Benign cerebellar mass with thickened, irregular cerebellar folia
- Pathogenesis unclear: hamartomatous, neoplastic, or congenital
- WHO grade 1
- No malignant potential
- Autosomal dominant inheritance of PTEN mutation
- Hamartomas of skin, GI and GU tracts, mucosa, eye, and CNS
- Increased risk of mucocutaneous tumors, thyroid adenomas, fibrocystic breast disease, and polyps
- Absence of cerebellar Purkinje cells, abnormal ganglion cells, and hypertrophic granule cell layer are microscopic features
- Any age (20-40 years at presentation most common)
- No gender predilection
- Common presenting signs/symptoms
- Increased intracranial pressure: headache, nausea, vomiting
- Cerebellar signs: ataxia, dysmetria, gait instability
- ± Clinical findings of MHAM/CS
- Treatment: surgical debulking ± CSF shunting
- “Corduroy,” striated, or tigroid appearance of cerebellar hemisphere due to thickened, irregular folia
- Most commonly unilateral cerebellar hemisphere involvement ± vermis
- Variable size
- Mass effect, tonsillar herniation, and hydrocephalus if large
- Stable size or slow growth
- Iso- to hyperdense lesion with thickened, irregular, and tigroid cerebellar folia
- Variable enhancement on contrast-enhanced CT
- T1WI: hypo- to isointense
- T2WI: hyperintense with hypo- to isointense cerebellar folia; hypointense vascular flow voids
- DWI: hyperintense signal which may represent “T2-shinethrough,” hypercellularity, or increased density of axons
- T1WI+C: variable enhancement
- MRS/ MR perfusion: decreased NAA, Cho, and MI; increased relative cerebral blood volume (rCBV) and relative cerebral blood flow (rCBF) may be present
- MRI without and with IV contrast including DWI and MR spectroscopy; evaluate for MHAM/CS if findings of LDD are present (and vice versa) due to increased risk of other malignancy
For more information, please see the corresponding chapter in Radiopaedia.
Contributor: Rachel Seltman, MD
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