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Lhermitte–Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is an uncommon hamartomatous lesion found in the cerebellar cortex. First described by French physicians Lhermitte and Duclos in 1920, this condition involves enlarged cerebellar folia containing abnormal ganglion cells. Clinical manifestations typically include headaches, visual disturbances, and cerebellar dysfunction. While imaging techniques like computed tomography (CT) scans may indicate the presence of mass lesions, magnetic resonance imaging (MRI) is crucial for accurate delineation of the lesion's boundaries and characterization of tissue involvement. Surgical intervention, typically in the form of respective surgery, remains the cornerstone of treatment for LDD. Despite advancements in imaging technologies and surgical techniques, the management of LDD remains fraught with complexities. The prognosis can be variable, and in some cases, despite appropriate therapeutic interventions guided by MRI-assisted surgical planning and confirmation through CT screening, the outcome may be unfavourable, as observed in this instance with the demise of the 50-year-old male patient. Further research and a deeper understanding of the pathophysiology underlying LDD are imperative to enhance diagnostic accuracy, refine treatment modalities, and potentially improve patient outcomes. This case underscores the challenges in managing this rare neurological condition and highlights the need for continued exploration into more effective therapeutic avenues. [ABSTRACT FROM AUTHOR]

The phosphatase and tensin homolog (PTEN) located at 10q23.31 is a tumor suppressor gene expressed ubiquitously, and loss of function mutations lead to aberrant growth, angiogenesis, and an increased risk for a variety of tumors. PTEN mutations have been associated with multiple abnormalities in the central nervous system, and a number of clinical phenotypes are now attributed to germline PTEN mutations, collectively referred to as PTEN hamartoma tumor syndrome (PHTS). Most notably, these include Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and autism spectrum disorders with macrocephaly. It is important to recognize the neuroimaging features associated with PTEN mutations to not only avoid misdiagnosis in cases of known PHTS but also to guide genetic testing in patients who do not yet have an established diagnosis. In this review, the central nervous system imaging features of PTEN -related disorders are discussed. • Mutation in the PTEN gene leads to aberrant growth and angiogenesis, and an increased risk for a variety of tumors. • Multiple clinical phenotypes are associated with germline PTEN mutation, collectively termed PTEN hamartoma tumor syndrome. • Recognizing neuroimaging features associated with PTEN mutations is key to avoid misdiagnosis and guide genetic testing. [ABSTRACT FROM AUTHOR]

Lhermitte-Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare hamartomatous tumor localized in cerebellum. An association with Cowden syndrome is observed in 50% of cases who present with symptoms of increased intracranial pressure and cerebellar ataxia. These patients have specific magnetic resonance imaging and histopathological findings. Surgical resection is the treatment of choice. Here, we report a case of a young female with traumatic frontal hemorrhage associated with Lhermitte-Duclos disease. [ABSTRACT FROM AUTHOR]

Lhermitte-Duclos Disease is a rare entity characterized by diffuse or focal enlargement of cerebellar folia. Clinical manifestations are usually related to a mass effect and secondary obstructive hydrocephalus. Increased intracranial pressure symptoms and cerebellar symptoms are the most frequent patient complaints. We present a 10-month-old male child with his mother who presented to the outpatient department with complaints of enlargement of size of head since the last one week. Magnetic Resonance Imaging scan revealed the features of Lhermitte-Duclos Disease involving the right cerebellar hemisphere with marked post contrast gyral enhancement. He underwent endoscopic third ventriculostomy. Lhermitte-Duclos Disease is very rare in early childhood and should be considered in the differential diagnosis of posterior fossa lesions. [ABSTRACT FROM AUTHOR]

Objective To investigate the MRI appearance of dysplastic cerebellar gangliocytoma. Methods Multiple MRI parameters of 12 patients with pathologically confirmed dysplastic cerebellar gangliocytoma were retrospectively analyzed. Results The tumors were distributed in the vermis (4), right (8), or left (4) cerebellar hemisphere with obstructive hydrocephalus. 11 tumors showed the typical striped appearance on T1- and T2-weighted images with (9) or without (3) linear enhancement. In 5 patients who underwent diffusion-weighted imaging (DWI), the tumors were isointense (3) or slightly hyperintense (2). All tumors showed hyperperfusion in 4 patients who underwent arterial spin labeling (ASL) scan. Conclusion Conventional MRI, DWI and ASL have typical appearance that help in the diagnosis of dysplastic cerebellar gangliocytoma. [ABSTRACT FROM AUTHOR]

Lhermitte-Duclos disease (LDD) is a rare, non-cancerous entity characterized by enlarged, abnormally developed cerebellar folia containing dysplastic cells. Symptomatic LDD is commonly observed in adults (adult-onset LDD, aLDD) as an isolated condition or associated with Cowden's disease (CD). The present study aimed to investigate the magnetic resonance imaging (MRI) characteristics and the underlying pathological findings in 7 cases of aLDD, with emphasis on the association with CD and the need for active cancer surveillance once the diagnosis of LDD is confirmed. The MRI findings along with the clinical and histopathological data collected from 7 patients with aLDD were retrospectively reviewed. The diagnosis of CD was based on a range of clinical characteristics, according to the International Cowden Consortium Criteria. A thorough review of the published data was conducted and our results indicated that all 7 cases shared similar MRI characteristics, whether the aLDD was sporadic (2 cases) or associated with CD (5 cases), including a highly typical non-enhancing striated MRI appearance of thickened folia, consisting of alternating bands on T1- and T2-weighted images. On gross examination, the involved cerebellar folia were distorted and enlarged, whereas the histopathological examination revealed that the molecular layer was widened and occupied by abnormal ganglion cells. Moreover, a reduction in the number or absence of the Purkinje cells and hypertrophy of the granular cell layer were observed. Our findings were consistent with the diagnosis of LDD. Variable levels of vacuolization of the white matter and the molecular layer were observed in all the cases. Notably, CD34 immunohistochemical analysis revealed the presence of angiogenesis within the lesions. aLDD associated with CD exhibited no pathological or immunohistochemical characteristics that were distinct from those of isolated aLDD. Of the 7 cases of aLDD, 5 presented with symptoms suggestive of CD, which is a syndrome associated with a high risk of multiple benign and malignant neoplasms. In conclusion, aLDD exhibits characteristic MRI and histopathological findings and displays a strong association with CD. Therefore, we recommend that the MRI diagnosis of aLDD triggers active cancer surveillance and preventive care. [ABSTRACT FROM AUTHOR]

Lhermitte - Duclos disease also called dysplastic gangliocytoma of cerebellum is an extremely rare cerebellar neoplasm. It usually presents with raised intracranial pressure along with cerebellar signs. We report a rare case of Lhermitte - Duclos disease of a 20 years male who presented with signs & symptoms of raised intracranial tension. CT features were suggestive of Lhermitte-Duclos disease. Subtotal excision of the mass followed by histopathological evaluation confirmed the diagnosis. This case has been reported to emphasize clinical presentation and radiological features of this rare entity. [ABSTRACT FROM AUTHOR]

Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) is rare condition, there are only 5 cases reported in Mexico. The age of presentation is variable, without sex predilection and clinically manifests with ataxia and elevated intracreal pressure. The etiology is not clear, some authors consider it a develomental disorder or an hamartoma; while others, considering the biological behavior and PTEN gene mutations, think this is a true neoplasm. Histopathological findings include widening of the molecular layer, absence of the Purkinje cell layer and abnormal ganglion cells. The treatment of election is a total resection of the tumor, and when this is not possible it is encouraged a good follow-up in order to exclude a recidive. [ABSTRACT FROM AUTHOR]

Adult-onset Lhermitte-Duclos disease (LD), or dysplastic cerebellar gangliocytoma, is a hamartoma considered pathognomonic for Cowden disease. Classically, LD has a progressive and insidious onset of symptoms. In this case report, we present a patient having rapid neurological deterioration from acute-onset LD. There are only three reported cases of acute LD presentation. A 22-year-old female presented to the emergency department with diplopia, dysarthria, dysphagia, and gait instability which developed within 6 h. A non-contrast CT scan revealed diffuse attenuation in the left cerebellum and mild ventricular dilatation. LP revealed no organisms. Magnetic resonance imaging revealed salient 'tiger stripe' appearance of the left cerebellar cortex and effacement of the fourth ventricle. The patient subsequently underwent suboccipital craniotomy and gross total resection of the lesion. The tumor histology showed distortion of normal cerebellar architecture with dysplastic ganglion cells, loss of Purkinje cells, atrophy of the white matter, and expansion of cerebellar folia. Findings were consistent with adult-onset Lhermitte-Duclos disease. [ABSTRACT FROM AUTHOR]

Cerebellar mutism (CM) is a rare and severe form of speech and language impairment, mostly diagnosed in children and adolescents and rarely reported in adults. We here review the literature and summarize all anatomical structures related to the pathogenesis of this rare syndrome. We also report two illustrative cases of CM following surgical treatment of Lhermitte-Duclos disease (LDD; dysplastic gangliocytoma) in two adult patients. LDD is a rare benign cerebellar tumor. Surgical excision appears to be the only effective treatment. However, surgery is hampered by the difficulty to distinguish between tumor and healthy cerebellar tissue, which may result in extensive resection and cause neurological deficits such as CM. A review of the literature and our two cases suggest that lesions or functional impairment of paravermian structures including dentate nuclei, vermis, lateral hemispheres, and cerebellocortical pathways contribute to the development of CM. However, there is no single anatomical structure identified to be associated with CM. It is unknown whether some diseases such as LDD carry a higher risk of postoperative CM than others. As illustrated by our two cases, although there are no special means, optimal preoperative diagnosis might contribute to the prevention of this syndrome. Despite the severity, CM carries a favorable prognosis and generally resolves within a few months. To conclude, we review the clinical signs and particularly the pathophysiological observations and anatomical structures affected in the development of postoperative CM and contribute two cases illustrating the pathogenesis, prognosis, and possible prevention of this syndrome, to focus that CM might also occur in adults even in association with rare tumors. [ABSTRACT FROM AUTHOR]

Lhermitte-Duclos disease (LDD, dysplastic gangliocytoma) is an extremely rare cerebellar lesion of uncertain etiology. The debate as to whether it constitutes a neoplastic, malformative, or hamartomatous lesion is still continuing. In this report we explore the usefulness of susceptibility-weighted imaging (SWI), diffusion weighted imaging (DWI), perfusion imaging, and chemical shift imaging (CSI) in demonstrating the pathology and pathophysiology in two patients with LDD. MR imaging of the brain and the cervicodorsal spine was performed on a 1.5-T scanner in a 47-year-old woman presenting with numbness and paresthesia of both upper and lower limbs, and in a 17-year-old male with right frontal headache associated with neck pain. Routine imaging in the first patient showed a left-side cerebellar mass with characteristic ’tiger-striped’ thick folia associated with Chiari I malformation, tonsillar herniation and cervicodorsal syringomyelia and in the second patient a right cerebellar mass with similar findings. The SWI demonstrated the characteristic deep running veins between the folia, which is thought to be the cause for vascular contrast enhancement. Diffusion showed a T2 shine-through effect with mild increased diffusivity, and perfusion showed increase in relative cerebral blood volume, relative cerebral blood flow, and mean transit time in the lesion. MR spectroscopy demonstrated reduction in metabolites and a prominent lactate peak in both the patients. The pathological and pathophysiological significance of these findings is discussed. MRI with the newer imaging capabilities can demonstrate the pathology and pathophysiology in Lhermitte-Duclos disease better. SWI helps in detecting the veins around the thickened folia. [ABSTRACT FROM AUTHOR]

Summary¶Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos) is a rare space occupying lesion of the posterior fossa with some typical neuroradiological features which can be better diagnosed in the MRI era. This is the major CNS manifestation of Cowden disease. In recent years more publications underlined the association of these hamartomatous lesions. We add another patient with a dysplastic gangliocytoma of the cerebellum who also had a thyroid adenoma and fulfilled the criteria of having Cowden disease. A problem of surgical removal of these tumors is missing the borderline between tumor and healthy cerebellum tissue so that incomplete removal of the tumor is not rare. Surgical removal of these tumors in an open MRI unit would be a good indication. [ABSTRACT FROM AUTHOR]

Objectives – Dysplastic gangliocytoma (Lhermitte–Duclos disease) is a rare disorder, characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. The fundamental nature of this apparently benign entity and in particular its pathogenesis remain unknown. The debate, whether it represents a neoplastic, malformative or hamartomatous lesion, is still in progress. Lhermitte–Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). Methods – The present account gives a review of the pertinent literature with emphasize on clinical presentation, radiological findings, surgical procedures, histopathological features and pathogenetic considerations of dysplastic cerebellar gangliocytoma. Results – Dysplastic cerebellar gangliocytoma clusters within the third to fourth decades of life. Cranial nerve palsies, unsteadiness of gait, ataxia and sudden neurological deterioration as a result of occlusive hydrocephalus are frequent signs and symptoms. Associations with other congenital malformations, such as megalencephaly, polydactylia, multiple haemangioma and skull abnormalities are common. Magnetic resonance imaging (MRI) is the diagnostic modality of choice and reveals characteristic non-enhancing gyriform patterns with enlargement of cerebellar folia. Surgery is the therapeutic procedure generally performed and complete resection was attempted in the majority of cases. The histopathological findings of Lhermitte–Duclos disease include widening of the molecular layer, which is occupied by abnormal ganglion cells, absence of the Purkinje cell layer and hypertrophy of the granule cell layer. Conclusions – Dysplastic gangliocytoma of the cerebellum is of benign behaviour and its incidence is extremely rare. The disease should be considered when confronted with a young adult presenting with clinical signs of progressive mass effect in the posterior... [ABSTRACT FROM AUTHOR]