Lhermitte–Duclos disease

Lhermitte-Duclos disease

Classification and external resources
OMIM	158350
MeSH	D006223

Lhermitte–Duclos disease (English pronunciation: /ˌlɛrˈmiːtˌduːˈkloʊ/) (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of the cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. It is often associated with Cowden syndrome.^[1] It was described by Jacques Jean Lhermitte and P. Duclos in 1920.^[2]

Signs and symptoms

Main clinical signs and symptoms include:

headache
movement disorders
tremor
visual disturbances
abnormal EEG
Diplopia

Patients with Lhermitte–Duclos disease and Cowden's syndrome may also have multiple growths on skin. The tumor, though benign, may cause neurological injury including abnormal movements.

MICROSCOPY(lhermitte-duclos disease) 1>Enlarged circumscribed cerebellar folia 2>internal granular layer is focally indistinct and is occupied by large ganglion cells 3>myelinated tracks in outer molecular layer 4>underlying white matter is atrophic and gliotic

Pathophysiology

In Lhermitte–Duclos disease, the cerebellar cortex loses its normal architecture, and forms a hamartoma in the cerebellar hemispheres. The tumors are usually found on the left cerebellar hemisphere, and consist of abnormal hypertrophic ganglion cells that are somewhat similar to Purkinje cells. The amount of white matter in the cerebellum is diminished.

Like cowden syndrome, patients with Lhermitte–Duclos disease often have mutations in enzymes involved in the Akt/PKB signaling pathway, which plays a role in cell growth. Mutation in PTEN gene on chromosome no. 10q leads to increased activity of AKT and mTOR pathways.

Treatment

Treatment is not needed in the asymptomatic patient. Symptomatic patients may benefit from surgical debulking of the tumor. Complete tumor removal is not usually needed and can be difficult due to the tumor location.

Epidemiology

Lhermitte–Duclos disease is a rare entity; approximately 222 cases of LDD have been reported in medical literature.^[3] Symptoms of the disease most commonly manifest in the third and fourth decades of life, although it may onset at any age.^[4] Men and women are equally affected, and there is not any apparent geographical pattern.^[4]

History

The disease was first described in 1920 by Lhermitte and Duclos.^[4]

References

↑ Eng C (November 2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". J. Med. Genet. 37 (11): 828–30. doi:10.1136/jmg.37.11.828. PMC 1734465. PMID 11073535.
↑ Lhermitte J, Duclos P (1920). "Sur un ganglioneurome diffuse du cortex du cervelet". Bulletin de l'Association Francaise pour l'etude du Cancer (Paris) 9: 99–107.
↑ Robinson S, Cohen AR (2006). "Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature". Neurosurg Focus 20 (1): E6. doi:10.3171/foc.2006.20.1.7. PMID 16459996.
1 2 3 Kumar, R; Vaid, VK; Kalra, SK (July 2007). "Lhermitte-Duclos disease.". Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 23 (7): 729–32. doi:10.1007/s00381-006-0271-8. PMID 17221273.

External links

Lhermitte-Duclos syndrome at Who Named It?
MedPix: Lhermitte-Duclos — Radiology and Pathology

Phakomatosis (Q85, 759.5–759.6)

Neurofibromatosis	Type I Type II

Angiomatosis	Sturge–Weber syndrome Von Hippel–Lindau disease

Hamartoma	Tuberous sclerosis Hypothalamic hamartoma (Pallister–Hall syndrome) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease

Other	Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome

Nervous tissue tumors/NS neoplasm/Neuroectodermal tumor (ICD-O 9350–9589) (C70–C72, D32–D33, 191–192/225)

Endocrine

Sellar:	Craniopharyngioma Pituicytoma

Other:	Pinealoma

CNS

Neuroepithelial
(brain tumors,
spinal tumors)

Glioma

Astrocyte	Astrocytoma Pilocytic astrocytoma Pleomorphic xanthoastrocytoma Subependymal giant cell astrocytoma Fibrillary astrocytoma Anaplastic astrocytoma Glioblastoma multiforme

Oligodendrocyte	Oligodendroglioma

Ependyma	Ependymoma Subependymoma

Choroid plexus	Choroid plexus tumor Choroid plexus papilloma Choroid plexus carcinoma

Multiple/unknown	Oligoastrocytoma Gliomatosis cerebri Gliosarcoma

Mature
neuron

PNET

Primitive

Medulloepithelioma

Meningiomas
(Meninges)

Hematopoietic

Primary central nervous system lymphoma

PNS: NST

Note: Not all brain tumors are of nervous tissue, and not all nervous tissue tumors are in the brain (see brain metastasis).

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein	Neurofibromatosis type I Watson syndrome Tuberous sclerosis

Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1

G protein

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2

Monomeric	RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF: SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3

MAP kinase

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase	BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency

Serine/threonine kinase	RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4/WNK1 Pseudohypoaldosteronism 2

Tyrosine phosphatase	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Signal transducing adaptor proteins

Other

NF2
- Neurofibromatosis type II
NOTCH3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

See also intracellular signaling peptides and proteins

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