Lhermitte-Duclos disease

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Lhermitte-Duclos disease
Dysplastic cerebellar gangliocytoma.jpg
OMIM 158350

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S[2]

Synonyms and Keywords: Dysplastic cerebellar gangliocytoma

Overview

Lhermitte-Duclos disease (LDD) is also called as dysplastic gangliocytoma of the cerebellum. Lhermitte-Duclos disease (LDD) is a very rare disease. Lhermitte-Duclos disease (LDD) follows an autosomal dominant pattern of inheritance. Lhermitte-Duclos disease (LDD) is a rare entity that may occur in the association of Cowden's syndrome (CS). In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.

Historical Perspective

  • Lhermitte-Duclos disease (LDD) was first discovered by Lhermitte and Duclos as "Sur un ganglioneurome diffus du cortex du cervelet", in 1920.[1][2]
  • In 1937, the first ever successful surgery was done on 34 year old Lhermitte-Duclos disease (LDD) patient who experienced symptoms for almost 6 long years.[3]

Classification

Pathophysiology

Microscopic Pathology

Gross appearance of a portion of the surgical specimen showing the coarse widened folia. Case courtesy by Sydney S. Schochet Jr. MD [25]

Causes

Differentiating Lhermitte–Duclos disease from other Diseases

Lhermitte–Duclos disease must be differentiated from medulloblastoma, Cowden disease and cerebellitis or subacute cerebellar infarction.[30]

Epidemiology and Demographics

Incidence

  • The incidence of Lhermitte–Duclos disease is very extremely rare worldwide.[31][32]
  • Till now hardly 200 patient cases were diagnosed with Lhermitte–Duclos disease worldwide.

Age

  • Lhermitte–Duclos disease most commonly affects individuals between 30-50 years.[33]
  • Lhermitte–Duclos disease might also affects infants or adults over 60 years in some rare cases.

Race

Gender

Risk Factors

  • There are no established risk factors for Lhermitte–Duclos disease.

Natural History, Complications and Prognosis

Natural History

Complications

Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Common symptoms of Lhermitte–Duclos disease include:[44]

Less common symptoms of Lhermitte–Duclos disease in severe cases include:[45]

Physical Examination

Neuromuscular

MRI

Head MRI may be helpful in the diagnosis of Lhermitte–Duclos disease without the need for surgery. Findings on MRI diagnostic of Lhermitte–Duclos disease include:[51][52][53][54][55][56][57][58][59][60]

 Cerebellar Mass in Lhermitte-Duclos Disease
MRI shows Tiger-striped appearance with abnormally oriented folia in the left cerebellar hemisphere, extending to the vermis. Case courtesy by Hideo Saito Et Al [61]

MR spectroscopy[62][63]

FDG-PET SCAN

FDG-PET scan may be helpful in the diagnosis of Lhermitte–Duclos disease about tumour pathology:[64][65]

CT scan

Head CT scan may be helpful in the diagnosis of Lhermitte–Duclos disease but has limited value. Findings include[66][52]

Lhermitte Duclos disease
MRI shows Coarse striations resulting from irregular, abnormally thickened cerebellar folia. Case courtesy by Sydney S. Schochet Jr. MD[68]

Treatment

Medical Therapy

  • Medical therapy is not indicated in patients who are asymptomatic in Lhermitte–Duclos disease.

Surgery

Surgery is the mainstay of treatment for Lhermitte–Duclos disease.[69][70]

Debulking of the tumor

References

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  3. Nair, Rajesh Parameshwaran; Kumar, Vinod (2016). "Lhermitte Duclos Disease in the Absence of Cowdens - A Varied Presentation". Journal of Neurological Disorders. 04 (01). doi:10.4172/2329-6895.1000260. ISSN 2329-6895.
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  15. Arun KA, Sreejith R, Hitha B, Geetha P, Sasidharan PK (2015). "Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia". Natl Med J India. 28 (2): 74–6. PMID 26612149.
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  21. Abel, Ty W.; Baker, Suzanne J.; Fraser, Melissa M.; Tihan, Tarik; Nelson, James S.; Yachnis, Anthony T.; Bouffard, John-Paul; Mena, Hernando; Burger, Peter C.; Eberhart, Charles G. (2005). "Lhermitte-Duclos Disease: A Report of 31 Cases with Immunohistochemical Analysis of the PTEN/AKT/mTOR Pathway". Journal of Neuropathology & Experimental Neurology. 64 (4): 341–349. doi:10.1093/jnen/64.4.341. ISSN 0022-3069.
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  25. "Gross appearance of a portion of the surgical specimen showing the coarse widened folia".
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  30. Buhl R, Barth H, Hugo HH, Straube T, Mehdorn HM (June 2003). "Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa". Acta Neurochir (Wien). 145 (6): 509–12, discussion 512. doi:10.1007/s00701-003-0040-3. PMID 12836078.
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  60. Golden N, Tjokorda MG, Sri M, Niryana W, Herman S (2016). "Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature". Asian J Neurosurg. 11 (2): 170. doi:10.4103/1793-5482.145091. PMID 27057227.
  61. "Biological Characteristics of a Cerebellar Mass Regrowing after Removal in a Patient with Lhermitte-Duclos Disease: Emission Tomography Studies".
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  67. Roski RA, Roessmann U, Spetzler RF, Kaufman B, Nulsen FE (August 1981). "Clinical and pathological study of dysplastic gangliocytoma. Case report". J. Neurosurg. 55 (2): 318–21. doi:10.3171/jns.1981.55.2.0318. PMID 7252559.
  68. "Axial T2 weighted MRI also showing the same coarse striations resulting from abnormally thick cerebellar folia".
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