Dysplastic Gangliocytoma of the Cerebellum – a case of cerebellar lesion, finally diagnosed five years later.
Dysplastic Gangliocytoma of the Cerebellum, also called as Lhermitte-Duclos Disease (LDD), is a rare condition. The importance of diagnosing it is to rule out co-existant Cowden’s syndrome by thorough clinical examination in view of increased risk of visceral malignancy associated with the latter. Though considered as hamartomatous lesion by some, it is mentioned as a tumour of central nervous system by WHO (Grade I). A lesion, seen in young adults usually, presents with signs & symptoms of raised intracranial tension. We herein describe a case that came with the symptoms of obstructive hydrocephalus five years back and diagnosed as having some tiny cerebellar lesion on imaging. As the patient was not willing to have biopsy done for definitive diagnosis at that time, it remained undiscovered till present. This time, classical MRI finding (tiger stripes appearance) & diagnostic histopathological features were seen leading to the diagnosis. Association with Cowden’s syndrome was not found in this case.
Lhermitte J, Duclos P. Sur un ganglioneuroma diffus du cortex du cervelet. Bull Assoc Franc Cancer. 1920; 9: 99-107.
Louis DN, Perry A, Reifenberger G et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropathol. 2016; 131: 803–820.
Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? Acta Neurol Scand. 2002; 105: 137-45.
Robinson S, Cohen AR. Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. Neurosurg Focus. 2006; 20 (1): E6.
Kumar R, Vaid VK, Kalra SK. Lhermitte-Duclos disease. Child's Nervous System. 2007; 23 (7): 729–32.
Louis DN, Ohgaki H, Wiestler OD, Cavenee WK. WHO classification of tumors of central nervous sys¬tem. 4th ed. Lyon: IARC; 2007.
Chiofalo MG, Cappabianca P, Basso De Caro MLD, Pezzullo L. Lhermitte – Duclos Disease. J Neurooncol. 2007; 82: 183-185.
Abel TW, Baker SJ, Fraser MM et al. Lhermitte–Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol. 2005; 64:341-349.
Zhou XP, Marsh DJ, Morrison CD et al. Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte–Duclos disease in adults. Am J Hum Genet. 2003; 73:1191-1198.
Shingare AB, Patil NK, Sorte SZ. Dysplastic gangliocytoma of the cerebellum. Radiology. 2009; 251: 298-303.
Koeller KK, Henry JM.) Superficial Gliomas: Radiologic-Pathologic Correlation. Radiographics. 2001; 21: 1533-1556.
Murray C, Shipman P, Khangure M et al. Lhermitte-Duclos Disease. Australasian Radiology. 2001; 45, 343-346.
Eberhart CG, Wiestler OD, Eng C. Cowden disease and dysplastic gangliocytoma of the cerebellum/Lhermitte–Duclos disease. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK. WHO classification of tumours of the central nervous system. 4th ed Lyon: IARC; 2007:113-114.
Rosenblum MK. Chapter 28 Central nervous system. In: Juan Rosai. Rosai & Ackerman’s Surgical Pathology. 10th ed. New York: Elsevier; 2012: 2367.
Rheinboldt M, Delproposto Z, Blasé J, Hakim B. Acute presentation of Lhermitte-Duclos disease in an adult patient in association with Cowden syndrome. Appl Radiol. 2016; 45(8): 28-31.
- There are currently no refbacks.
Annals of Pathology and Laboratory Medicine (APALM) is licensed under a Creative Commons Attribution 4.0 International License. Based on a work at APALM