Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 59-year-old man who complained of binocular vertical diplopia after an exploratory laparotomy, complicated by cardiorespiratory arrest during anesthetic induction, was found to have Collier's sign, anisocoria, complete paralysis of upward vertical gaze associated with convergence-retraction nystagmus on attempted upgaze and skew deviation with hypertropia in the left eye without ptosis, and an absent Bielschowsky sign. Magnetic resonance imaging of the brain showed a small lesion in the left paramedian midbrain compatible with microvascular ischemic sequelae. This patient was diagnosed with Parinaud's syndrome (dorsal midbrain syndrome) associated with a vertical strabismus from an unilateral vascular ischemic paramedian midbrain lesion.
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PMID:Parinaud's syndrome due to an unilateral vascular ischemic lesion. 2564 59

We present a 26 year old Pakistani lady with first presentation of a demyelinating event, presenting as Parinaud's syndrome. The video demonstrates a convergence-retraction nystagmus on upgaze and failure of accommodation, and her brain imaging confirms a corresponding pre-tectal contrast enhancing T2 hyperintense lesion suggestive of demyelination. A review of the literature is presented.
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PMID:Parinaud's syndrome - A rare presentation of clinically isolated syndrome. 2587 80

OBJECTIVE The ophthalmological outcomes of children treated for pineal tumors have received limited attention in the literature. METHODS This paper reviews the outcomes of 29 children treated for pineal and posterior third ventricular tumors in the contemporary era using chemotherapy, radiotherapy, and resection as defined by the histology and/or marker profile of the tumor. RESULTS At the time of diagnosis, all patients except 1 had hydrocephalus and all had ophthalmological involvement. Papilledema was found in 69% of patients. Seventy-five percent of patients had partial or complete Parinaud's syndrome, and diplopia or blurred vision was noted in the remaining patients. Visual acuity was impaired in 8 patients. Outcomes were dependent on the histology of the tumor and the treatment required. Those patients who did not requiring resection showed a lower rate of ophthalmological worsening during treatment and greater long-term improvement, in particular with respect to up-gaze palsy. Patients who underwent resection for postchemotherapy residual disease or primary resection showed greater worsening during treatment and lesser degrees of recovery. All patients with impaired visual acuity improved with treatment. CONCLUSIONS As the mortality of germ cell and other pineal tumors decreases, posttreatment morbidity remains, specifically that related to convergence nystagmus, accommodation, and diplopia. In addition to survival, ophthalmological morbidity should be reported in studies concerning the outcomes of treatment for pineal neoplasms.
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PMID:Ophthalmological outcomes of patients treated for pineal region tumors. 2701 19

We report an ALK-rearranged adenocarcinoma of the lung presenting as a pituitary metastasis, clinically simulating a pituitary adenoma. The patient, a 50 year-old, former-smoking woman was admitted with a Parinaud's syndrome characterized by progressive oculomotor impairment of visual verticality, bitemporal hemianopsia and nystagmus. Imaging studies showed a sellar tumor and the biopsy revealed a TTF-1 and napsin positive lung adenocarcinoma strongly expressing synaptophysin and CD56, also harboring ALK rearrangement. A subsequent CT scan disclosed the primary lung mass of the left upper lobe. The patient progressed after 4 cycles of cisplatin/pemetrexed as first line treatment, but showed a partial response and a significant clinical benefit from the combination of ceritinib and nivolumab in a phase Ib trial. Despite its central nervous system tropism, ALK-rearranged adenocarcinoma manifesting with pituitary gland involvement was never reported. Second generation ALK inhibitors seem the best therapeutic strategy.
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PMID:ALK-positive adenocarcinoma of the lung expressing neuroendocrine markers and presenting as a "pituitary adenoma". 2944 35

Parinaud syndrome (PS) can manifest in a pineal tumour. Major components of PS include restriction of gazing upwards, light-near dissociation and convergence retraction nystagmus. A 14-year-old boy presented with diplopia and restricted ability to gaze upwards. The objective examination revealed signs, which were compatible with the major manifestations of PS. A magnetic resonance scan (MRI) of cerebrum indicated pinealoma, and a pathological examination identified the lesion as a germ cell carcinoma. The patient received chemotherapy and stereotactic radiosurgery. The ophthalmic symptoms improved, and a follow-up MRI demonstrated complete regression of the tumour.
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PMID:[Parinaud syndrome caused by corpus pineale tumour in a 14-year-old boy]. 3037 57

Parinaud syndrome (PS) can manifest in a pineal tumour. Major components of PS include restriction of gazing upwards, light-near dissociation and convergence retraction nystagmus. A 14-year-old boy presented with diplopia and restricted ability to gaze upwards. The objective examination revealed signs, which were compatible with the major manifestations of PS. A magnetic resonance scan (MRI) of cerebrum indicated pinealoma, and a pathological examination identified the lesion as a germ cell carcinoma. The patient received chemotherapy and stereotactic radiosurgery. The ophthalmic symptoms improved, and a follow-up MRI demonstrated complete regression of the tumour.
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PMID:[Parinaud syndrome caused by corpus pineale tumour in a 14-year-old boy]. 3041 17


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