Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pleomorphic xanthoastrocytoma (PXA) is an uncommon tumor of young adults that typically occurs supratentorially. It is generally considered to be a low-grade, circumscribed tumor that when treated by surgical resection has a relatively favorable outcome. Cases of cerebellar PXA are rare, and those associated with neurofibromatosis type 1 (NF1) are even less common, with only 2 cases reported to date. We present herein a third case of PXA-NF1 with unusual features. A 33-year-old woman presented with a history of headache. Her medical and family history was significant for NF1. Brain MRI revealed a 3.4 cm ill-defined lesion with a gyriform enhancing pattern in the left cerebellum, superficially mimicking Lhermitte-Duclos disease. The patient underwent a gross total resection of the lesion and had an unremarkable postoperative course. While the lesion had histological features typical of "pure" PXA (WHO grade II) it had an unusual growth pattern with thickening of the superficial cerebellar folia and predominant leptomeningeal involvement. No BRAF, IDH-1, or IDH-2 mutation was identified. Three months after surgery, local recurrence was detected, and the patient was treated with radiation therapy. One year after the first surgery, she underwent surgical resection of the recurrent/residual tumor. Histologically, the recurrent tumor showed very similar features to the initially resected tumor, with no anaplastic features. Most cerebellar PXAs have an indolent clinical behavior as do most cerebral PXAs. Whether co-existence of NF1 was a factor in altering the clinical course and biologic behavior of this patient's tumor is currently unknown.
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PMID:Cerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review. 2626 71

We report a patient with features of Cowden syndrome (CS). A 35-year old woman has been suffering from headache, vertigo and mild imbalance since 2 years. Examination showed subtle mucocutaneous lesions: papillomatous papules on the gingival mucosa, a few verrucous acral skin lesions and macrocephaly. Magnetic resonance imaging (MRI) revealed a tumor of the left cerebellar hemisphere with "tiger-striped" pattern on T2-weighted image (T2WI), typical of Lhermitte-Duclos disease (LDD)--one of the pathognomonic but infrequent features of CS. A pathogenic de novo heterozygous PTEN mutation: c.49C>T variant has been identified in exon 1 of the PTEN gene by sequencing.
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PMID:Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation. 2637 87

A 75-year-old man with Lhermitte-Duclos Disease (LDD) manifesting as progressive headache is presented. Magnetic resonance imaging demonstrated a right cerebellar mass lesion with the characteristic "tiger-striped appearance". A mild mass effect was evident at the medulla oblongata, accompanied by inferior displacement of the right cerebellar tonsil. Thus, tonsillar herniation was considered the cause of his headache and he underwent partial resection of the tumor to solve tonsillar herniation. His headache gradually improved. LDD in the elderly is quite rare. Several differences in the nature of the lesion are seen in the elderly, with tendencies toward a male predominance, hypervascularity, and low rates of association with Cowden disease. Moreover, partial resection to reduce mass effect can improve clinical symptoms without recurrence. In symptomatic LDD in the elderly, to avoid surgical complication, we recommend partial resection to reduce mass effect.
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PMID:Lhermitte-Duclos Disease Treated Surgically in an Elderly Patient: Case Report and Literature Review. 2644 47

Lhermitte-Duclos disease (LDD), a disorder first described by French physicians Lhermitte and Duclos in 1920 [25], is a benign, slow growing dysplastic gangliocytoma of the cerebellum, characterized by replacement of the granule cell layer by abnormal granule and Purkinje like cells. The most frequent presenting signs and symptoms are megalocephaly, increased intracranial pressure, nausea, hydrocephalus, ataxia, gait abnormalities, and intermittent headaches, all of which are attributed to the mass effect [6,11,25]. Many cases are associated with a mutation in the phosphatase and tensin homolog or PTEN gene which is also involved in numerous otherwise unrelated central nervous system abnormalities, namely Cowden syndrome [1,6,11], autism spectrum disorder [18], cerebral cortical dysplasia [11,30] and Bannayan-Riley-Ruvalcaba syndrome [30]. The presence of cortical heterotopia has been reported in a small number of LDD cases [3,5,17,32]. We describe a unique case of LDD with cerebral cortical heterotopic grey matter containing neurofibrillary tangles.
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PMID:Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter. 2754 76

A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Significant clinical and perimetric improvements were noted after surgery and the follow-up did not reveal recurrences of the tumour. LDD is an extremely rare differential diagnosis of posterior fossa tumours. LDD and the history of thyroid carcinoma permitted us to diagnose Cowden syndrome (CS). We present a clinical case that supports the possibility of performing a preoperative diagnosis of LDD based on MRI features. We review the diagnosis and management of LDD and CS. This report highlights the importance of excluding CS after LDD diagnosis, of monitoring the optic nerve postoperatively using optical coherence tomography and of prompt treatment that can potentially prevent visual function loss.
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PMID:Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient. 2813 2

The aim of this study is to describe a case of Lhermitte-Duclos disease (LDD), which is an extremely rare cause of cerebellar ataxia. LDD is an extremely rare type of benign cerebellar mass and usually manifest as features of raised intracranial pressure and cerebellar dysfunction. Patients may remain asymptomatic for many years, and detection of tumor may be by chance on routine magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS). A 29-year-old female presented to the outdoor patient department with 18 months history of a headache, which was moderate to severe in intensity, throbbing in nature, localized to the right side of the head, and associated with nausea and photophobia. On examination, she had mild cerebellar dysfunction, and MRI/MRS finding was consistent with LDD. LDD is a rare cause of headache and cerebellar dysfunction in younger age group. Treatment may be individualized, and conservative management with regular follow-up may be a better approach if symptoms are mild and nonprogressive in nature.
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PMID:Lhermitte-Duclos Disease: A Rare Cause of Cerebellar Ataxia. 2911 88

Background: Lhermitte-Duclos disease (LDD) stems from the development of a rare benign lesion of uncertain pathogenesis that distorts the normal cerebellar laminar cytoarchitecture. We explored the lesion's appearance on conventional magnetic resonance imaging (MRI) combined with susceptibility-weighted imaging, diffusion-weighted imaging, perfusion imaging, or arterial spin labeling. Although many cases of LDD have been previously reported in the literature, the radiologic-pathologic correlation has been described in only a few of these cases. To the best of our knowledge, this is the first case report to provide detailed information about the radiologic-pathologic correlation of LDD. Case Report: A 48-year-old woman presented with left facial tics, occipital headache, and dizziness for 1 month. MRI revealed a left cerebellar lesion with hypointensity on T1-weighted images. On T2-weighted images, the mass was hyperintense with tigroid appearance due to alternating high and normal signal intensities. High signal intensity was noted on fluid-attenuated inversion recovery images. Magnetic resonance spectroscopy indicated decreased level of choline (Cho), N-acetyl aspartate, and myoinositol with elevated level of lactate on the affected side. The lesion showed a bright signal on diffusion-weighted images, whereas apparent diffusion coefficient mapping revealed no disturbance of diffusion. The pathology of the excised lesion was consistent with LDD. Conclusion: MRI with advanced techniques can provide not only preoperative diagnosis but also better pathologic correlation.
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PMID:Lhermitte-Duclos disease: A case report with radiologic-pathologic correlation. 3098 66

Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. It is probably hamartomatous, although the exact pathogenesis remains unknown. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). It typically presents in young adults, although it has been encountered at all ages. We present the case of bilateral cerebellar location of this pathology in a 50-year-old man presented with a progressive onset and worsening of headaches accompanied by nuchal rigidity, photophobia and nausea awakening each morning. Upon physical examination, the patient was awake with a discrete right vestibular syndrome made of positive Romberg without nystagmus. Magnetic Resonance Imaging (MRI) was performed and revealed salient "tiger stripe" appearance of the bilateral cerebellar cortex relevant to a Lhermitte-Duclos disease.
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PMID:The Lhermitte-Duclos disease: a rare bilateral cerebellar location of a rare pathology. 3148 96

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.
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PMID:Resection of a Symptomatic Dysplastic Cerebellar Gangliocytoma: 2-Dimensional Operative Video. 3180 81

BACKGROUND 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.
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PMID:Role of Long-Term Vestibular Rehabilitation in a Patient with Posterior Fossa Tumor: A Case Report with 2 Years of Follow-Up. 3291 76


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