Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma,
was first described about a century ago by Lhermitte and Duclos (
1
). It is classified as World Health Organization grade 1 according to the latest classification
(
2
). The most frequent symptoms are related to the effects of the cerebellar mass and
secondary hydrocephalus (
3
,
4
). T2-weighted images often reveal characteristic “tiger-stripe” patterns in the cerebellar
hemispheres. Symptomatic LDD requires neurosurgical treatment, while close clinical
and radiological follow-up is recommended for asymptomatic patients until symptom
presentation or progression seen on imaging (
3
,
4
). Currently, LDD is regarded as the main manifestation of Cowden syndrome or PTEN
hamartoma tumor syndrome in the central nervous system, rather than as a single disease.
According to the published diagnostic criteria (
5
), a patient with LDD typically presents with a broad spectrum of PTEN-related clinical syndromes, including benign breast disease, colonic polyps, and
thyroid disease. The role of abnormalities and lesions in the cerebellum in relation
to psychotic disorders has not been extensively studied. Here, we report a case of
LDD with a refractory psychotic disorder that showed stable remission after surgical
resection without the need for further antipsychotic medication. This case provides
evidence that abnormal cerebellar development might be a potential cause of psychotic
disorders.To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Biological PsychiatryAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Sur un ganglionneurome diffus du cortex du cervelet.Bull Assoc Fr Etude Cancer. 1920; 9: 99-107
- The 2021 WHO Classification of Tumors of the Central Nervous System: A summary.Neuro Oncol. 2021; 23: 1231-1251
- Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) and Cowden syndrome: Clinical experience from a single institution with long-term follow-up.World Neurosurg. 2017; 104: 398-406
- Lhermitte-Duclos disease: Clinical study with long-term follow-up in a single institution.Clin Neurol Neurosurg. 2017; 162: 53-58
- Cowden syndrome and the PTEN hamartoma tumor syndrome: Systematic review and revised diagnostic criteria.J Natl Cancer Inst. 2013; 105: 1607-1616
- The surgical resection of dysplastic cerebellar gangliocytoma assisted by intraoperative sonography: Illustrative case.J Neurosurg Case Lessons. 2021; 2: CASE21451
- The cerebellum and cognitive function: 25 years of insight from anatomy and neuroimaging.Neuron. 2013; 80: 807-815
- The incidence and nature of cerebellar findings in schizophrenia: a quantitative review of fMRI literature.Schizophr Bull. 2013; 39: 797-806
- Functional outcomes of cerebellar malformations.Front Cell Neurosci. 2019; 13: 441
- Proximal dentatothalamocortical tract involvement in posterior fossa syndrome.Brain. 2009; 132: 3087-3095
- Long-term psychiatric outcomes in pediatric brain tumor survivors.Childs Nerv Syst. 2015; 31: 653-663
- Lhermitte-Duclos disease caused by a novel germline PTEN mutation R173P in a patient presenting with psychosis.Neuropathol Appl Neurobiol. 2010; 36: 86-89
- Gómez-López-Hernández syndrome: A case with schizophrenia.Biol Psychiatry. 2016; 80: e25-e27
- Dandy-Walker malformation-like condition revealed by refractory schizophrenia: A case report and literature review.Neuropsychobiology. 2019; 77: 59-66
- PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.Brain. 2015; 138: 1613-1628
- PTEN somatic mutations contribute to spectrum of cerebral overgrowth.Brain. 2021; 144: 2971-2978
- Consensus Paper: Experimental neurostimulation of the cerebellum.Cerebellum. 2019; 18: 1064-1097
- Cerebellar-prefrontal network connectivity and negative symptoms in schizophrenia.Am J Psychiatry. 2019; 176: 512-520
Article info
Publication history
Published online: March 08, 2023
Accepted:
January 20,
2023
Received in revised form:
January 15,
2023
Received:
November 28,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 Society of Biological Psychiatry.
