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Cowden syndrome (CS) is a rare, autosomal dominant, multisystem disease related to the mutation of phosphatase and tensin homolog (PTEN) tumor suppressor gene. It is characterized by the occurrence of multiple hamartomas and mucocutaneous lesions and is associated with a high risk of malignancies. Lhermitte-Duclos disease (LDD), or dysplastic cerebellar gangliocytoma, is a rare hamartomatous lesion of the cerebellar cortex with a unique “tiger stripe” appearance on magnetic resonance imaging (MRI). Since 1991, LDD has been considered pathognomonic and part of CS. In addition, as almost all adult onset LDD cases were associated with PTEN gene mutations, LDD and CS are both included in PTEN hamartoma tumor syndrome (PHTS). In this article, we report a 48-year-old female patient, who presented with a right cerebellar lesion resulting in hydrocephalus. The histology of the cerebellar lesion confirmed the diagnosis of LDD, and her clinical history is highly suggestive of CS. Due to the high incidence of multisystemic malignancies and other diseases, it is important for clinicians to be aware of the association between LDD and CS. Affected patients should be evaluated carefully and screened for cancers accordingly, so as to allow early diagnosis and treatment.

Objective: To describe the histological and immunohistochemical findings observed when studying a dysplastic cerebellar gangliocytoma observed in a 33-year-old man with a history of Thyroid Cancer. Material and Methods: Radiological images (MRI) and histological and immunohistochemical preparations obtained from the cerebellar tissue were received in our laboratory. Results: A neoplasm constituted by aberrant-looking mature neurons was observed that showed negativity for the immunohistochemical markers of the PTEN protein, expression of the activity of the PTEN gene. Conclusions: Verify the diagnosis of a rare entity, clearly related in scientific publications with Cowden’s Syndrome.

BACKGROUND Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) is an extremely rare, slow-growing hereditary mass lesion that is mainly characterized by both specific neuroradiological features and secondary hydrocephalus. Patients may present with symptoms of cerebellar mass lesion and increased intracranial pressure. As an important part of Cowden syndrome, Lhermitte-Duclos disease in adults is typically marked by PTEN gene mutation. OBSERVATIONS The clinical management of a 31-year-old woman who suffered Lhermitte-Duclos disease was introduced in this case report. Subtotal resection was performed with the assistance of intraoperative sonography to relieve obstructive hydrocephalus, and prophylactic C1 laminectomy was performed to prevent possible postoperative progression of the residual lesion. Perioperative care and surgical process were clearly revealed in an accompanying video. Intraoperative sonography of Lhermitte-Duclos disease presents hyperechoic distorted thickening cortices surrounded by hypoechoic edema belt. The patient did not report any significant neurological complications or sequelae after the lesion resection. LESSONS The authors first reported the use of intraoperative sonography in resection of adult-onset Lhermitte-Duclos disease. Hopefully, the educative case report can provide a feasible experience in the diagnosis and treatment of Lhermitte-Duclos disease.

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.

Lhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, usually benign, slow-growing tumor, that commonly affects patients aged 30 to 50 years-old. The manifestations of dysplastic cerebellar gangliocytoma are nonspecific and are related both to the mass effect produced by its growth and to the location of the lesion. Cerebellar symptoms such as ataxia are often present. In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group of genetic disorders called polypoid hamartoma complex. In this case report, the patient presented expansive lesion in the posterior fossa, compatible with LDD, associated with macrocephaly. These findings are considered major criteria for Cowden syndrome. When together, they confirm the diagnoses. To our knowledge, this is the first report of the association of LDD and Cowden syndrome in Brazil.

Background Dysplastic gangliocytoma (Lhermitte-Duclos disease [LDD]) typically presents as a PTEN (phosphatase and tensin homolog)-positive, insidious unilateral mass of the cerebellar cortex. Patients can present with symptoms of increased intracranial pressure. Magnetic resonance imaging (MRI) will reveal a characteristic laminar/tigroid appearance. Surgical management has been superior to conservative measures for symptomatic lesions. The outcomes for bilateral craniotomy have not yet been described. Case Description A 50-year-old patient with Cowden syndrome had initially presented with vertigo and imbalance. T2-weighted MRI showed a striated pattern of hypointensity and hyperintensity in bilateral cerebellar hemispheres consistent with Lhermitte-Duclos disease. He underwent right posterior fossa craniotomy with near total surgical resection and achieved symptom resolution. However, 3 years later, asymptomatic recurrence of the right-sided LDD and progression of left-sided LDD were noted. These were managed with a 1-year course of temozolomide. Both lesions remained stable until 4 years after completion of temozolomide. MRI demonstrated progression in the left hemisphere requiring a second surgical resection. PTEN analysis of the resected lesion was negative for mutation. Conclusions To the best of our knowledge, the present case is the first reported case of bilateral cerebellar hemisphere LDD ultimately managed by temporally dissociated bilateral surgical resections. Our patient was unique in that he had undergone surgery for resection of LDD, followed by a second surgery for contralateral progression 8 years later. The therapeutic options to prevent recurrence are limited, although temozolomide did seem to impede progression. Symptomatic patients will typically benefit most from surgical intervention. Given the strong association between adult LDD and Cowden syndrome, maintaining close follow-up care and possible surveillance imaging will be essential.

Objective: Unusual clinical courseBackground: Lhermitte-Duclos disease (LDD) is caused by a rare slow-growing mass in the cerebellum. LDD generally is experienced by young adults, but also it has been encountered in the pediatric population. Lhermitte and Duclos first described cerebellar dysplastic gangliocytoma in 1920. The first case they described included occipital headache, paroxysmal vertigo, falls, hearing problems, and memory deficits. Our patient had typical symptoms of the disorder such as headache, nausea, vomiting, blurred vision, and imbalance. The purpose of this case report was to describe the outcome of a computerized dynamic posturography (CDP) vestibular training program combined with home-based exercises designed to improve balance function and reduce the risk of falling by an individual with a posterior fossa tumor.Case Report: A 36-year-old male patient was diagnosed with dysplastic gangliocytoma/ganglioglioma according to magnetic resonance imaging, computed tomography, and pathology reports on March 28, 2016. The patient was treated by partial cerebellar tumor resection on April 7, 2016. After the operation, he reported severe imbalance, nausea, and vomiting for 1 month and visited the Audiology Department on October 20, 2016. The patient was evaluated with the CDP-sensory organization test (SOT) and his composite equilibrium score of this examination was 48, 31% below normal. We administered a 6-week posturography-assisted vestibular rehabilitation (VR) protocol (extending an hour per week) combined with a home-based exercise program twice in 2 years. In the second evaluation we applied in 2018, SOT composite equilibrium score increased to 72 after VR, reaching normal limits. After 2 years, his complaints slightly alleviated and his SOT scores were better when we compared the VR results in 2016.Conclusions: We demonstrated that long-term VR may affect a patient with dysplastic cerebellar gangliocytoma (LDD) presenting imbalance or dizziness.

The following case report features a middle-aged female patient, previously diagnosed with Cowden syndrome, who presented to the hospital with symptoms of headaches and changes in vision that began with no apparent cause and persisted for almost a month. MRI of the head confirmed a diagnosis of dysplastic cerebellar gangliocytoma, also known as Lhermitte-Duclos disease. This cerebellar tumor, while extremely rare in incidence, is classified as the most common type of brain lesion in adult patients with Cowden syndrome. This report will also include a comprehensive literature review of Cowden syndrome and Lhermitte-Duclos disease, with greater emphasis on the radiologic characteristics of Lhermitte-Duclos disease.

Cowden syndrome (CS) is a rare genetic disease which puts patients at an increased risk of developing mucocutaneous lesion, multiple hamartomas, breast cancer, thyroid cancer, and Lhermitte–Duclos disease (LDD). This article reviews the role of LDD in the diagnosis of CS. It is important for all clinicians to identify these patients due to the high risk of other associated malignancies.

Lhermitte-Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare benign cerebellar tumor that is typically observed but may occasionally become symptomatic and requires surgical intervention. The condition is caused by a mutation in the phosphatase and tensin homolog (PTEN) gene, which results in dysregulation of the mammalian target of rapamycin pathway. A germline PTEN mutation results in multi-organ involvement and is termed Cowden syndrome. There is a scarcity of surgical videos in the published literature that demonstrate an intraoperative resection of this lesion and illustrate the pathology in Vivo. We present an operative video of a surgical resection of a symptomatic dysplastic cerebellar gangliocytoma in a 44-yr-old male patient who presented with a 3-mo history of progressive headaches and hydrocephalus. The patient underwent an endoscopic third ventriculostomy and, subsequently, a right suboccipital craniotomy for microsurgical resection of the mass. The procedure was performed with the patient in the lateral position. The microscope was positioned at the head of the bed and the stereotaxic system monitor on the patient's left side. The patient tolerated the procedure well and imaging obtained at 18 mo was negative for residual or recurrent disease. The patient gave written consent for video recording as part of the surgery informed consent. No identifiable images or video footage of the face are shown, and institutional review board approval was deemed unnecessary.

OBJECTIVE The aim of this study was to perform an updated review of the imaging features of dysplastic cerebellar gangliocytoma (DCG). METHODS Imaging findings were retrospectively reviewed in 14 patients with DCG. The analysis included size, location, cyst formation, calcification, intralesional hemorrhage, enhancement pattern, and apparent diffusion coefficient (ADC). RESULTS In addition to revisiting many well-established imaging features of DCG, enhancement was much more common (64.3%) than previously reported, and small enhancing veins were also frequently encountered within or along the periphery of the lesions (50%). Dysplastic cerebellar gangliocytomas had an elevated ADC compared with normal cerebellum (967.8 ± 115.7 vs 770.4 ± 47.3 × 10 mm/s; P < 0.0001). CONCLUSIONS Enhancement on magnetic resonance imaging within DCG should be an accepted imaging finding rather than being viewed as uncommon or atypical. Dysplastic cerebellar gangliocytomas typically have an elevated ADC compared with normal cerebellum, which may assist in differentiation from other posterior fossa neoplasms.

The current classification of malformations of cortical development is based on the type of disrupted embryological process (cell proliferation, migration, or cortical organization/post-migrational development) and the resulting morphological anomalous pattern of findings. An ideal classification would include knowledge of biological pathways. It has recently been demonstrated that alterations affecting the mechanistic target of rapamycin (mTOR) signaling pathway result in diverse abnormalities such as dysplastic megalencephaly, hemimegalencephaly, ganglioglioma, dysplastic cerebellar gangliocytoma, focal cortical dysplasia type IIb, and brain lesions associated with tuberous sclerosis. We review the neuroimaging findings in brain abnormalities related to alterations in the mTOR pathway, following the emerging trend from morphology towards genetics in the classification of malformations of cortical development. This approach improves the understanding of anomalous brain development and allows precise diagnosis and potentially targeted therapies that may regulate mTOR pathway function.

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.

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) is a rare disorder of uncertain pathogenesis characterized by disarrangement of the normal cerebellar laminar cytoarchitecture. A case of histopathologically confirmed Lhermitte-Duclos disease with characteristic imaging findings and successful surgical management is reported and our findings are discussed.

Lhermitte-Duclos disease (LDD) or dysplastic gangliocytoma of the cerebellum is a rare benign lesion of uncertain pathogenesis characterized by overgrowth of cerebellar ganglion cells which replace granular cells and Purkinje cells; this results in gross thickening of the cerebellar folia. It is revealed by symptoms of raised intracranial pressure, cerebellar impairment and obstructive hydrocephalus. We reported the case of a 41-year-old male who presented with symptoms of acute raised intracranial pressure. Brain computed tomography (CT) scan revealed hydrocephalus due to compression of the 4th ventricle by a large non-enhancing left cerebellar mass. Magnetic resonance imaging (MRI) showed a space-occupying lesion within the left cerebellar hemisphere with unusual striation. Radical surgery was retained though the margins with normal cerebellar tissue were not distinct. Clinical complications after gross total or partial removal of Lhermitte-Duclos lesions have been rarely reported in the literature; herein we stress the importance of extreme caution in removing these lesions in cerebellar areas that have no distinct margins between the lesion and normal tissue.

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.

We describe a patient with dysplastic cerebellar gangliocytoma (Lhermitte–Duclos disease) who presented with an acute onset of positional disequilibrium. Video-oculography in the right Hallpike position revealed rightward torsional down-beat nystagmus, initially thought to be right anterior canal benign positional vertigo. However, the presence of spontaneous nystagmus, the persistent character of the positional nystagmus and the absence of fatigability indicated central positional nystagmus, attributable to his right-sided Lhermitte–Duclos disease. These findings emphasise the need for clinicians to reconsider a central cause before diagnosing the rare anterior canal benign positioning vertigo variant.

A 28-year-old right-handed man presented with longstanding occipital headache, progressive ataxia, and blurred vision. He had begun vomiting 8-10 days earlier. He had no other important history. Neurologic examination revealed average intelligence and was remarkable for cerebellar ataxia. Papilledema was noted at fundoscopy. Magnetic resonance (MR) imaging of the brain was performed. No abnormality was noted on apparent diffusion coefficient maps or T2 * -weighted gradient-echo images (not shown).

Background: Lhermitte-Duclos is a rare hamartomatous lesion of the cerebellar cortex with both neoplastic and hamartomatous features. Also known as dysplastic cerebellar gangliocytoma, they usually occur in the setting of Cowden’s syndrome, an autosomal dominant condition characterized by multiple hamartomas and neoplastic lesions in skin and internal organs. Although enlargement of the internal granular layer of the cerebellum is a consistent finding in our case, the background setting of Cowden’s syndrome was not present in our case. Case description: We present a unique case of LDD in the absence of Cowdens syndrome in a 58-year old gentleman who presented with cerebellar signs, a first to be reported in literature. Here we describe our clinical vignette. C onclusion: Most of the cases of LDD, reported in literature, were associated with Cowdens disease, however our case is the first to present without Cowdens disease. To date no other similar cases have been reported in literature.

Resume La maladie de Lhermitte-Duclos, appelee encore « gangliocytome dysplasique cerebelleux », est une entite rare, caracterisee par une lesion hamartomateuse en fosse posterieure. Le syndrome de Cowden, ou « syndrome des neoplasies-hamartomes », rare et sous-diagnostique, est une genodermatose autosomique dominante, avec haute incidence de tumeurs malignes. Plusieurs cas cliniques recents montrent que la maladie de Lhermitte-Duclos peut s’integrer dans le cadre d’un syndrome de Cowden. Les auteurs rapportent deux cas de maladie de Lhermite-Duclos avec syndrome de Cowden chez des patients adultes. Le premier cas est celui d’une femme de 40 ans, qui presentait une hypertension intracrânienne avec macrocephalie, une dysplasie fibrokystique de sein ainsi qu’un goitre thyroidien ; l’examen clinique montrait des lesions cutaneo-muqueuses ; sa mere, son pere et un oncle avaient des manifestations de syndrome de Cowden. Le second cas est celui d’un homme de 38 ans, qui avait un œdeme papillaire en relation avec une tumeur cerebelleuse ; il avait des antecedents entrant dans le cadre d’un syndrome de Cowden et son histoire familiale confirmait cette hypothese. Le premier patient etait opere pour sa maladie de Lhermitte-Duclos. Une attitude de surveillance etait envisagee pour le second, avec un recul clinique et radiologique tout a fait stables de plus de 7 ans. Nous pensons que la maladie de Lhermitte-Duclos et le syndrome de Cowden constituent un type de phacomatose. Une attitude expectative peut etre envisageable en raison du faible potentiel evolutif de croissance tumorale. Cependant, ces patients doivent etre examines avec attention en raison du risque de degenerescence tumorale maligne.

A 38-year-old man presented with a dysplastic cerebellar gangliocytoma associated with a paraspinal arteriovenous fistula (AVF) at the upper cervical portion. Neuroimaging examination indicated the diagnosis of Lhermitte-Duclos disease. The patient was treated by embolization of the AVF followed by partial resection of the cerebellar tumor. Genetic examination showed a mutation of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene. Histological examination confirmed the diagnosis. Lhermitte-Duclos disease is a rare dysplastic gangliocytoma manifesting as a slowly growing mass in the cerebellum and is usually asymptomatic. This case of Lhermitte-Duclos disease associated with paraspinal AVF and mutation of the PTEN gene suggests a relationship between Lhermitte-Duclos disease and Cowden disease.

Lhermitte–Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is a rare mass lesion of the cerebellum. It was first described in 1920. The lesion may be part of a syndrome and associated with congenital malformations, such as megalencephaly, hemihypertrophy, partial gigantism, and polydactyly. Its nature is controversial, and the debate whether it represents a tumor, malformation, or hamartoma is still open.

A 30-year-old male patient presented with progressive occipital headache since one year with no associated nausea, vomiting or gait disturbance. Neurological examination revealed negative Rhomberg’s sign. Computed tomography revealed non-enhancing hypodense mass in right cerebellar hemisphere compressing fourth ventricle with obstructive hydrocephalus, however it was inconclusive. Afterwards, MRI was performed which revealed right cerebellar mass with striated hypo and iso intense signal on T1W images, hyper and iso intense signal on T2W images. Mass was compressing fourth ventricle postero-inferiorly with obstructive hydrocephalus. Associated inferior tonsillar herniation into upper cervical canal was also noted [Table/Fig-1,​,22]. [Table/Fig-1]: T2W axial (A) & FLAIR (B) coronal images reveals right cerebellar mass (arrows) with alternate bands of hyperintense and isointense signal giving “tiger stripes” appearance with mass effect over cisterna magna & 4th ventricle ... [Table/Fig-2]: T1W sagittal image reveals alternating bands of relative isointense and hypointense signal within the lesion (arrow) with mild inferior tonsillar herniation Proton MRS showed reduced NAA, Choline peaks. Cho/Cr and NAA/Cr ratios were within normal limits [Table/Fig-3]. On Flurodeoxyglucose (FDG) Positron emission tomography (PET) and PET-CT examinations the mass lesion showed evidence of hypermetabolism [Table/Fig-4,​,55]. [Table/Fig-3]: MRS image reveals reduced peaks of NAA and choline, decreased Cho/Cr ratio (0.65). NAA/Cr (1.02) & NAA/Cho (0.94) ratios were also reduced compared to normal [Table/Fig-4]: PET reveals increased FDG uptake in the lesion suggesting hypermetabolism (arrow) [Table/Fig-5]: PET, CT reveals increased FDG uptake by the right cerebellar mass (arrow) Considering diagnosis of Lhermitte-Duclos disease, Ultrasound and CT-scan of chest and abdomen were done, but they did not reveal any abnormality hence ruling out features suggesting Cowden Syndrome. Patient was operated and avascular mass was resected with free margins and sent for histopathological examination. HPE revealed WHO grade-I dysplastic cerebellar gangliocytoma according to criteria for the diagnosis of Lhermitte-Duclos disease. Postoperative course was uneventful and patient was discharged within 1 week after surgery without any neurological deficit. First described in 1920 [1] by Lhermitte and Duclos, Lhermitte Duclos disease (LDD) (dysplastic gangliocytoma) is a rare disorder of uncertain pathogenesis characterized by disarrangement of normal cerebellar laminar cytoarchitexture. This entity has been described by variety of terms like granular cell hypertrophy, ganglioneuroma and gangliocytoma dysplasticum [2]. LDD is found to be associated with Cowden syndrome in 40% cases. Cowden syndrome is also known as multiple hamartoma syndromes, a rare autosomal dominant condition characterized by multiple hamartomas and neoplasms of ectodermal, mesodermal and endodermal origin [3]. LDD can also be accompanied by megalencephaly, hydromelia, heterotopia, microgyria, polydactyly, leontiasis ossea and multiple haemangiomas [2]. Our patient did not show any features of this syndrome. Although LDD usually occurs in third or fourth decades, reported age ranges from newborn to 74 years [3]. Clinically, LDD typically presents with findings of increased intracranial pressure in young adults. Many patients suffer from headache due to increased intracranial pressure caused by mass effect and obstructive hydrocephalus. Nausea, vomiting, visual disturbance and cerebello-vestibular symptoms can also be seen [3]. Classical MRI findings of LDD is described as especially unilateral, non enhancing hemispheric mass with layered appearance consisting of alternating bands of relative iso-, and hypointensity to normal brain on T1W, and relative hyper and iso intensity on T2W images [3]. Wolansky et al., mentioned that “tiger stripes” appearance is so distinctive that that it is unlikely to be confused with another entity. Non-enhancement is not a rule, since LDD lesions with contrast enhancement have been reported rarely [4]. Our case showed right cerebellar lesion with hemispheric expansion and typical striated pattern resembling tiger stripes on both T1- and T2W images with no contrast enhancement or perilesional oedema. MRS shows some characteristic findings such as decreased NAA with increased lactate peak. Lack of increased Cho/Cr ratio is striking which are in contrast to cerebral tumors where choline levels are raised. Our case showed decrease level of NAA and choline. Cho/Cr ratio was also decreased (0.65). NAA/Cr (1.02) & NAA/Cho (0.94) ratios were also reduced compared to normal. The disease is difficult to diagnose on CT, which shows poorly defined hypodense lesion with no contrast enhancement but may show calcification and thinning of occipital bone. FDG-PET revealed increased 18-FDG uptake within whole right cerebellar lesion suggesting either increased overall cell metabolism or an isolated up regulation in enzyme activity of hexokinase remains unclear. Histological examination reveals typical findings of thickening and hypermyelination of the molecular layer and large pleomorphic cells replacing purkinje and granular cell layers. Demyelination of central white matter of the folia is also observed. Conventional MRI shows characteristic and pathognomic features of LDD, however MRS can provide useful additional information regarding benign nature of this lesion. Hypermetabolism on FDG-PET further supports diagnostic accuracy. Thus imaging can achieve accurate preoperative diagnosis of LDD along with delineation of the margins, thereby enabling complete excision.

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 fossa. The lesion is hypointense on T1- and hyperintense on T2-weighted magnetic resonance images. Recognition of the disease is of particular importance, as the frequent but under-reported coexistence with Cowden syndrome, should prompt thorough clinical and apparative investigation to detect or exclude concomitant malignancies.

Lhermitte-Duclos disease (LDD) or cerebellar gangliocytoma is a rare pathological entity, the etiology of which remains controversial. Numerous developmental anomalies are known to be associated with LDD, but the association between LDD and split cord malformation (SCM) has not been reported to our knowledge. We report LDD in a 3-year-old girl in whom repetitive urinary tract infections led to the diagnosis of a neurogenic bladder. Thorough screening revealed a SCM at the thoracic level which was surgically repaired. The pathogenesis of this entity and management strategies are discussed in this paper.

Objective: Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) is a rare hamartomatous lesion of the cerebellar cortex. The pathogenesis of the disease is still poorly understood. Lhermitte-Duclos disease was recently considered to be part of a multiple hamartoma-neoplasia syndrome (Cowden disease). We add two further cases to this rare entity. Patients: A 24-year old woman presented with occipital headaches, blurred vision, diplopia and ataxia of gait. Physical examination revealed turricephaly. The second patient was a 37-year old woman, who presented with progressive occipital headache with nausea and vomiting. Physical examination revealed congenital facial asymmetry. Computed tomography and NMR-imaging, respectively demonstrated a space occupying mass of a cerebellar hemisphere in both cases. Results: Suboccipital craniotomy and complete removal of the infratentorial tumour were performed in both patients. Histopathological findings clinched the diagnosis of Lhermitte-Duclos disease. Postoperative course was uneventful in the first and complicated by progressive occlusive hydrocephalus in the second patient, necessitating permanent surgical shunt drainage. Both patients were discharged free of complaints. Conclusions: Dysplastic cerebellar gangliocytoma is commonly associated with progressive mass effects in the posterior fossa and typically presents with headaches, cerebellar dysfunction, occlusive hydrocephalus and cranial nerve palsies. The disease usually manifests in young adults, but the age at presentation ranges from birth to the sixth decade. There is no sex predilection. NMR-imaging became a useful clue to the diagnosis within the last decade. Therapy consists of decompression of the posterior fossa by total surgical removal of the tumour mass.

A 46-year-old female patient with previously recognized Graves’ ophthalmopathy, underwent total thyroidectomy. After thyroid surgery exophthalmos worsened and signs unsteadiness of gait appeared. Magnetic resonance imaging showed a lesion in the basal portion of the left cerebellar hemisphere. Therefore, the patient underwent surgery. Pathological examination revealed dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).

Lhermitte-Duclos disease is a rare entity, and its pathological features are unique. Pathological findings are characteristic of the disease, with global hypertrophy of the cerebellum, coarse gyri, and the typical "inverted cortex" pattern. Several associated lesions were noted in many patients with Lhermitte-Duclos disease. It is only recently that an association between Lhermitte-Duclos disease and Cowden disease was reported. Cowden disease, or multiple hamartomas syndrome, is a familial disease associating breast cancer, cutaneomucous tricholemmomas, and various other tumoural and dysplasic conditions. A new case of Lhermitte-Duclos disease associated with Cowden disease is reported. A review of the literature found 72 cases of Lhermitte-Duclos disease; 26 had conditions suggesting Cowden disease and seven were definite cases of Cowden disease. The association of Lhermitte-Duclos disease and Cowden disease is probably underestimated. Cowden disease represents a new form of phakomatosis; Lhermitte-Duclos disease may occur as a sporadic disease, or as part of familial Cowden disease. The possibility of preneoplastic states in Cowden syndrome stresses the importance of a thorough screening when Lhermitte-Duclos disease is diagnosed.

Dysplastic cerebellar gangliocytoma is a rare benign tumor associated with specific neuroimaging findings of abnormal laminated or folial pattern in the posterior fossa. Some authors thus proposed that it could be diagnosed by neuroimaging studies alone. We encountered a patient with medulloblastoma in which the neuroimaging findings mimicked those of dysplastic gangliocytoma. In patients with a posterior fossa tumor suggestive of a dysplastic gangliocytoma on neuroimaging studies, a pathologic confirmation is necessary.

Lhermitte-Duclos disease (LDD; dysplastic cerebellar gangliocytoma) is a rare hamartomatous lesion of the cerebellar cortex and this was first described in 1920. LDD is considered to be part of the autosomal-dominant phacomatosis and cancer syndrome Cowden disease (CS). We examined the brain of a 46-year-old man, who displayed the manifestations of CS, with 7 Tesla (T) and 1.5T MRI and 1.5T MR spectroscopy ( 1 H-MRS). We discuss the possible benefits of employing ultrahigh-field MRI for making the diagnosis of this rare lesion.

A case of dysplastic cerebellar gangliocytoma recurring after 20 years and representing with subarachnoid haemorrhage is described. Evidence in favour of a neoplastic pathogenesis is presented.

L’hermitte–Duclos disease (LDD) also known as dysplastic cerebellar gangliocytoma is a rare slowly enlarging cerebellar mass lesion composed of dysplastic ganglion cells. It has features of both hamartoma and benign neoplasm (WHO grade I). The exact incidence is unknown although most reports indicate that this is a rare condition. In the cerebellum, no cases of gangliocytoma have been reported except in the context of LDD.

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.

Lhermitte-Duclos disease (LDD) (dysplastic cerebellar gangliocytoma) is a rare disorder of unknown pathogenesis, presenting with signs and symptoms resulting from obstruction of cerebrospinal fluid flow and mass effect in the posterior fossa. Magnetic resonance imaging is the diagnostic modality of choice allowing preoperative diagnosis with characteristic findings. Surgery is the choice of treatment. The typical histopathological findings of LDD are characterized by widening of the molecular layer, absence of the Purkinje cell layer and hypertrophy in the granule cell layer. Herein we report an adolescent girl with LDD diagnosed preoperatively by the conventional and advanced MR techniques.

Lhermitte-Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare cerebellar benign tumor with characteristic appearance of thickened cerebellar folia giving a laminated or striated appearance, quite diagnostic of the condition. We had seen a patient with medulloblastoma with imaging findings suspicious for thickened cerebellar folia reminiscent of Lhermitte-Duclos disease. However, it showed patchy contrast enhancement and restricted diffusion on diffusion-weighted imaging, which are not typically associated with Lhermitte-Duclos disease. Presence of restricted diffusion proved to be a useful diagnostic feature for differentiation between the two lesions. This patient highlights the importance of obtaining all the MR imaging sequences in suspected Lhermitte-Duclos disease and histological diagnosis if there is doubt.

Two unrelated patients with macrocephaly, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). Both also had autosomal dominant Cowden disease as evidenced by facial, oral, and acral papules. In the two families, 9 sibs demonstrated the mucocutaneous lesions, thyroid disease, breast tumors, and ovarian tumors compatible with the diagnosis of Cowden disease. Some of the sibs also showed various degrees of neurological signs such as macrocephaly, mental retardation, seizures, tremor, and dysdiadochokinesia. Magnetic resonance imaging scans of sibs of one family demonstrated megalencephaly and other mild abnormalities. The occurrence of these two rare disorders in single patients is more than a coincidence, and the clinical findings in the combined condition establishes it as a new phakomatosis.

Dysplastic cerebellar gangliocytoma or Lhermitte-Duclos disease (LDD) especially in children are extremely rare. In this report we add one further case to this rare entity. A three year old boy with a history of cerebellar and brain stem compression signs was presented in unconscious condition. Computerized tomography (CT) scan revealed a well defined lesion mixed with area of calcification in the right cerebellum and severe obstructive hydrocephalus. Ventricular shunting was performed followed by gross total tumor removal three days after shunting. In the follow up period, the patient showed almost total resolution of all neurological deficits. MRI has been an imaging tool to preoperatively diagnose this disease; otherwise it would be uncertain preoperative diagnosis. However, in this report we would like to emphasize that not all uncertain diagnosis of LDD leads to palliative treatment. Well demarcated lesion may account for the safe surgical resection of this disease.

The typical CT findings of Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) are a hypodense nonenhancing unilateral posterior fossa mass, with or without adjacent occipital thinning, hydrocephalus, and calcification. Magnetic resonance (MR) has been found to be very helpful, and superior to CT, in delineating the margins of the lesion for determining the extent of surgical resection. Since recurrence is known, MR is important in the follow-up of these patients. To our knowledge this is the first reported case that included MR examination with administration of gadolinium. There was no enhancement of the lesion, consistent with previous reports of no contrast enhancement on CT.

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.

A 46-year-old female patient with previously recognized Graves’ ophthalmopathy, underwent total thyroidectomy. After thyroid surgery exophthalmos worsened and signs unsteadiness of gait appeared. Magnetic resonance imaging showed a lesion in the basal portion of the left cerebellar hemisphere. Therefore, the patient underwent surgery. Pathological examination revealed dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).

Object Cowden disease is a rare autosomal-dominant phacomatosis and cancer syndrome that is associated with Lhermitte–Duclos disease (LDD), also called dysplastic cerebellar gangliocytoma. Methods In this review the authors summarize the additions to the literature during the past 5 years, with emphasis on new case reports and advances in imaging and molecular biology. Adult-onset LDD is now considered pathognomonic for Cowden disease. Approximately 220 cases of LDD have been reported. Magnetic resonance imaging in patients with LDD is often diagnostic, and imaging studies have facilitated accurate diagnosis and contributed to the improved outcome in affected patients. Cowden disease and other rare, related disorders, such as Bannayan-Riley-Ruvalcaba, Proteus, and Proteus-like syndromes, are often caused by mutations of the PTEN gene. Conclusions Because of the high incidence of systemic cancer in patients with Cowden disease, it is important for neurosurgeons to recognize the association between this disease and LDD and to refer affected patients for appropriate cancer screenings and interventions.

Lhermitte-Duclos disease or dysplastic gangliocytoma of the cerebellum, is a rare cerebellar lesion, which can cause mass effects in the posterior fossa. It may occur sporadically, or in association with Cowden syndrome. Cowden syndrome or multiple hamartoma-neoplasia syndrome, is an uncommon autosomal dominant condition characterized by mucocutaneous lesions and systemic malignancies. We report two patients with Lhermitte-Duclos disease and associated Cowden syndrome. The clinical, radiological and histopathological features and management strategies of this rare disease complex are discussed.

Lhermitte-Duclos disease is a rare benign lesion of uncertain pathogenesis characterized by distortion of the normal cerebellar laminar cytoarchitecture. There is a characteristic MR imaging appearance of a nonenhancing mass in the cerebellar hemisphere with a striated pattern. We report two cases of Lhermitte-Duclos disease and describe findings on diffusion-weighted MR imaging.