1529 - A rare case of Lhermitte-Duclos Disease: A multidisciplinary approach to diagnosis and management

Friday, February 23, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

TA

Tauseef Ahmed, DO

Resident physician
Temple University Hospital
philadelphia, Pennsylvania, United States

Co-Author(s)

OD

Oliver C. De Asis, DO

Resident physician
Temple University Hospital
philadelphia, Pennsylvania, United States
PM

Pawan Marfatia, DO

Resident
Temple University Hospital
philadelphia, Pennsylvania, United States
AF

Andrew Fisher, MD

Resident Physician
Thomas Jefferson University Hospital
philadelphia, Pennsylvania, United States
AX

Andrew Xanthis, MD

Resident physician
Jefferson Einstein Hospital
philadelphia, Pennsylvania, United States
LE

Lee Esposito, BS

Medical Student (4th year)
University of New England College of Osteopathic Medicine
Alplaus, New York, United States
BM

Brian McDonald, MD

Attending Physician
Bryn Mawr Rehabilitation Hospital
Malvern, Pennsylvania, United States

Case Diagnosis: Cerebellar dysplastic gangliocytoma in the setting of underlying Lhermitte-Duclos Disease leading to parenchymal compression.

Case Description: A 31-year-old female presented with three months of progressive headaches, neck pain, dizziness, nausea, vomiting, and double vision. Imaging revealed a 4.2 x 4.5 cm left cerebellar mass causing obstructive hydrocephalus. This mass was identified as a cerebellar dysplastic gangliocytoma and she was subsequently diagnosed with Lhermitte-Duclos Disease (LDD), confirmed by pathology. An EVD was placed followed by a left suboccipital craniotomy and tumor resection. There were no perioperative complications, and the patient was subsequently discharged to rehabilitation to address her vision, cognition, balance, and activities of daily living.

Discussions: LDD or dysplastic gangliocytoma of the cerebellum, is an exceptionally rare cerebellar tumor. There are only approximately 222 reported cases worldwide. It affects both genders equally and lacks any apparent geographical patterns. It often co-occurs with Cowden syndrome and presents with symptoms such as headaches, movement disorders, visual disturbances, and abnormal EEG findings.

Pathology reveals a distinctly enlarged cerebellar granular layer and atrophic white matter. This disease is associated with mutations in enzymes related to the Akt/PKB signaling pathway. Symptoms usually manifest in the third to fourth decades of life but can occur at any age. Asymptomatic cases may not require treatment, while symptomatic patients may benefit from surgical tumor debulking. Complete tumor removal is often challenging due to its location.

Conclusions: This case emphasizes the importance of the physical exam and a wide differential to accurately diagnose complex neurological conditions. The collaboration between various medical specialties and timely interventions, including neurosurgery and physiatry, plays a critical role in optimizing patient outcomes. Further studies are warranted to better understand and raise awareness of this exceedingly rare cerebellar tumor.