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Lhermitte-Duclos Syndrome

Summary

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  • Rare cerebellar hamartomatous disorder characterised by dysplastic gangliocytoma
  • Associated with Cowden syndrome, an autosomal dominant disorder
  • Imaging shows characteristic "tiger-striped" appearance on MRI

Pathophysiology

  • Caused by mutations in the PTEN tumour suppressor gene
  • Results in hypertrophy of cerebellar molecular layer and internal granular layer
  • Abnormal arborization of Purkinje cells and increased myelination

Demographics

  • Typically presents in young adults (third to fourth decade)
  • No gender predilection
  • Rare, with fewer than 300 cases reported in literature

Diagnosis

  • Clinical presentation:
    • Increased intracranial pressure
    • Cerebellar signs (ataxia, dysmetria)
    • Cranial nerve palsies
    • Occipital headaches
  • Genetic testing for PTEN mutations
  • Histopathological examination of resected tissue

Imaging

  • CT:
    • Hypodense cerebellar mass
    • Possible calcifications
    • Hydrocephalus may be present
  • MRI:
    • T1: Hypointense to isointense
    • T2/FLAIR: Hyperintense with characteristic "tiger-striped" appearance
    • Contrast: Typically non-enhancing
    • DWI: Restricted diffusion
    • MR Spectroscopy: Elevated lactate, decreased NAA

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  • An incidental expansile lesion in a 30 year old was heterogeneously T2-hyperintense and showed tigroid (presumably vascular) enhancement.

Treatment

  • Surgical resection is the primary treatment
  • Close monitoring for recurrence
  • Genetic counseling for patients and families
  • Management of associated Cowden syndrome manifestations
  • Regular screening for other PTEN-associated neoplasms

Differential diagnosis

Differential Diagnosis Distinguishing Feature
Cerebellar hemangioblastoma Contrast enhancement and cystic components on MRI
Medulloblastoma Typically occurs in children; more aggressive growth
Pilocytic astrocytoma Cystic component with enhancing mural nodule
Metastatic tumour Multiple lesions, known primary cancer, rapid growth
Cerebellar infarction Acute onset, vascular territory distribution
Posterior fossa ependymoma Fourth ventricle involvement, calcifications