"Pure" Suprasellar Schwannoma Presented with Communicating Hydrocephalus: A Case Report.
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ABSTRACT:
SUBMITTER: Oishi T
PROVIDER: S-EPMC5566690 | biostudies-other | 2017 Jul
REPOSITORIES: biostudies-other
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Project description:Intraventricular schwannomas are rare primary brain tumors, with fewer than 25 cases reported in the literature. Here, we present the case of a 20-year-old male patient with a 2 year history of blurry vision and dysesthesia involving his right occiput and upper neck. Imaging demonstrated a homogeneously enhancing mass located within the atrium of the right lateral ventricle with associated right lateral ventricular entrapment. Pathology confirmed the tumor to be an intraventricular schwannoma. Imaging findings, presentation, complications, and treatment options for intraventricular schwannomas are described.
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Project description:We report a successful bilateral globus pallidus internus-deep brain stimulation (GPi-DBS) for a Parkinson disease (PD) patient with idiopathic normal pressure hydrocephalus (INPH) and an unusually long anterior commissure-posterior commissure (AC-PC) line. A 54-year-old man presented with a history of 3 months of severe shuffling gait, rigidity, slow movements of the left side limbs, and difficulty managing finances. A brain MRI revealed marked ventriculomegaly (Evans index = 0.42). The patient was diagnosed with INPH and a ventriculoperitoneal shunt was placed. Cognitive impairment improved, but walking disturbances, slowness, and rigidity persisted. Then treatment with levodopa was added, and the patient experienced a sustained improvement. He was diagnosed with PD. After 7 years, the patient developed gait freezing and severe levodopa-induced dyskinesia. The patient underwent bilateral GPi-DBS. We used MRI/CT fusion techniques for anatomical indirect targeting. Indirect targeting is based on standardized stereotactic atlas and on a formula-derived method based on AC-PC landmarks. The AC-PC line was 40 mm (the usual length is between 19 and 32 mm). Intraoperative microelectrode recording was a non-expendable test, but multiple recordings were avoided to reduce the surgical risk of ventricular involvement. There was a 71% decrease in the UPDRS III score during the on-stimulation state (28 to 8). The patient's dyskinesias resolved dramatically with a UdysRS of 15 (88% improvement) during the on-stimulation condition. The observed motor benefits and the improvement of his daily activities have persisted 6 months after surgery. Deep brain stimulation surgery in PD with ventriculomegaly is a challenge. This procedure can result in a greater chance of breaching the ventricle, with risks of intraventricular hemorrhage and migration of cerebrospinal fluid into the brain parenchyma with target displacement. Furthermore, clinical judgment is paramount when recent onset of shuffling gait coexists with ventriculomegaly because the most common dilemma is differentiating between PD and INPH. For these reasons, neurologists and surgeons may refuse to operate on PD patients with ventriculomegaly. However, DBS should be considered for PD patients with motor complications when responsiveness to levodopa is demonstrated, even in the context of marked ventriculomegaly.
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Project description:Hyperhomocysteinemia is a common medical condition observed in patients with aminoaciduria. Deficiency in cystathionine beta-synthase, metabolism of cobalamin associated C, peroxiredoxin 1, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, LMBR1 domain containing 1, 5-methyltetrahydrofolate-homocysteine methyltransferase or 5,10-methylenetetrahydrofolate reductase (MTHFR) all can result in an elevation in plasma homocysteine, which has been reported to be a risk factor of vascular events, such as atherosis, acute myocardial infarction and cerebral stroke. Hyperhomocysteinemia due to the deficiency of 5,10-methylenetetrahydrofolate reductase (MTHFR; also known as 5,10-methyl THR reductase) is an autosomal recessive rare disease caused by defects in the MTHFR gene. The clinical manifestations of this disorder are heterogeneous, ranging from asymptomatic to severe neurological disorders. However, hydrocephalus has seldomly been reported in patients with MTHFR deficiency. The present study thus describes a case of severe MTHFR deficiency in an infant, whose main manifestation was hydrocephalus. The clinical course and genotype of the patient were also examined. Specifically, a 4-month-old boy with hydrocephalus was admitted to hospital. Clinical examinations and genetic sequencing of the patient were performed to determine the probable causative factors. A physical examination revealed that the patient had developmental delay and progressive hydrocephalus. Amino acid analysis of the blood revealed an enhancement in serum homocysteine levels and a decrease in blood methionine and free carnitine levels. The organic acid levels in urine were normal. Therefore, he was diagnosed with hyperhomocysteinemia. Targeted next-generation sequencing was performed to determine the pathogenetic gene in this case. A paternal mutation c.1530G>A (p.K510K) and a maternal mutation c.233C>A (p.S78X) were identified. Previous experimental evidence indicated that these two mutations were all pathogenic; therefore, this patient was ultimately diagnosed with MTHFR deficiency. The patient in described herein study presented with severe progressive hydrocephalus in association with a delayed developmental milestone. According to the clinical and genetic tests, the patient was diagnosed with severe MTHFR deficiency. It thus is recommended that screening for metabolites and performing gene sequencing in infants presenting with undisclosed hydrocephalus.
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Project description:Introduction and importanceSchwannomas are benign tumors commonly found in the cranial vault at the cerebellopontine angle. Schwannomas could arise from any nerve that has Schwann sheath. Their most common extra-cranial localization is the parapharyngeal space. Schwannomas do not usually metastasize, and recurrence is uncommon.Case presentationWe present a case of a sympathetic trunk schwannoma in a patient that presented with dysphagia and a painful neck mass. Oro-pharyngeal examination revealed the presence of a mass filling-up the left tonsillar fossa, and pushing the uvula to the right side. The larynx was also deviated to the right due to the mass effect. The mass was resected en-bloc with the involved part of the sympathetic trunk. The patient developed Horner's syndrome postoperatively.Clinical discussionThe occurrence of Sympathetic trunk Schwannomas is very rare. The majority of patients presented with a cervical mass and non-specific symptoms. The most effective treatment is surgical resection. Our experience suggests sympathetic trunk Schwannomas as a differential diagnosis of slow-growing neck masses and asserts that the surgical resection is the main treatment.ConclusionThe occurrence of Schwannomas in the sympathetic trunk is rare. High clinical suspicion is required to achieve the preoperative diagnosis. The optimal management is the total surgical resection. Recurrence is uncommon when the mass is totally resected.
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Project description:IntroductionOcular complaints are considered non-classical presentations for COVID-19 infection; the initial diagnosis of keratoconjunctivitis is even rarer. Indeed, this puts treating clinicians in danger of getting infected, especially when patients present without the classic respiratory symptoms.CaseHere we report a case of COVID-19 that was initially presented with keratoconjunctivitis with the appearance of respiratory symptoms four days later. The case showed improvement within four days of successful treatment for both covid pneumonia and ocular disease.DiscussionCountable cases reported initial ocular symptoms to co-occur with systemic symptoms or even before. Only two cases reported the diagnosis of keratoconjunctivitis in COVID-19. The two cases differ in the proposed mechanism of developing such disorder. One by direct invasion of the virus, the other one by cytokines-induced epithelial injury. Our case did not show positivity for SARS-CoV 2 in the eye secretion, which aligns with the later proposed mechanism of pathology.ConclusionIt is crucial to report such cases to increase the awareness of atypical presentation for COVID-19 infection. This is too important for two reasons: first, to diagnose the disease itself, and second, to take infection control precautions when treating such cases, with unexpected initial presentation.
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Project description:BackgroundIntracranial intraparenchymal schwannomas (IS) are rare tumors that have mainly been described in case reports. Here, we report on a case of a brainstem IS and included a comprehensive literature review.Case descriptionA 74-year-old man presented with progressive gait disturbances. CT- and MRI-imaging revealed a contrast-enhancing mass accompanied by a cyst in the dorsolateral pons. Hemangioblastoma was suspected and surgery was advised. During surgery, gross total resection of a non-invasive tumor was performed. Postoperative recovery was uneventful. Based on histopathological examination, the intraparenchymal brainstem tumor was diagnosed as schwannoma.ConclusionOur extensive review illustrates that ISs are benign tumors that most often present in relatively young patients. Malignant cases have been described but form an extremely rare entity. Preoperative diagnosis based on radiological features is difficult but should be considered when peritumoral edema, calcifications, and cysts are noted. In benign cases, gross total resection of the lesion is curative. To adequately select this treatment and adjust the surgical strategy accordingly, it is important to include IS in the preoperative differential diagnosis when the abovementioned radiological features are present.
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Project description:IntroductionCrocodile tears syndrome is paroxysmal lacrimal hypersecretion while eating or drinking. It is relatively rare and mainly observed after peripheral facial nerve injury due to any cause.Presentation of caseWe describe a case of crocodile tears syndrome after vestibular schwannoma surgery in a patient with pre-operative trigeminal nerve involvement. We also discuss the various treatment options offered to the patient and the natural course of the illness.DiscussionIt is hypothesized that facial nerve fibers undergo misdirected re-innervation of the lacrimal gland instead of the salivary gland. After vestibular schwannoma surgery, facial nerve palsy is well described. The sensory symptoms are relatively neglected by the surgeon, even though they cause discomfort to the patient. This may be the cause for the underestimation of its incidence.ConclusionThe knowledge of the incidence, mechanism and natural course of crocodile tears syndrome along with patient education is important to reduce post-operative distress to the patient. We also hypothesize the correlation of crocodile tears syndrome with motor component of facial function and the role of preservation of nervus intermedius in reducing post-operative facial palsy.
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