Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027497 (nausea)
 23,468 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lhermitte-Duclos disease (LDD) is a pathologic entity with progrediating, diffuse hypertrophy chiefly of the stratum granulosum of the cerebellum. Typically LDD is a unilateral lesion of the cerebellum or in vermis. Here we report a case of LDD with bilateral lesions of cerebellar hemispheres managed surgically. A 28-year-old woman presented with one-year history of progressive headache, nausea, vomiting, and blurred vision. Neurologic examination revealed a bilateral mild papilledema, mild dysmetria, and dysdiadochokinesia. The cerebellar lesions caused moderate mass effect in posterior fossa with hydrocephalus, and Chiari type I malformation. We performed the suboccipital-retrosigmoid approach, and removed completely the left intracerebellar mass. Symptoms related to elevated intracranial pressure disappeared in a short period postoperatively.
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PMID:Bilateral Lhermitte-Duclos disease. 2050 58

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

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

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