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Query: UMLS:C0033377 (
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11,717
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Six members of a family--the mother, three daughters, and two sons--have a unique syndrome consisting of congenital external ophthalmoplegia, bilateral facial weakness, lingua scrotalis, progressive chorioretinal sclerosis, and an intellectual deficit. Bilateral
ptosis
and almost complete ophthalmoplegia were found in three of the family members, bilateral facial weakness in two, and
Parinaud's syndrome
and convergence paresis in one. Electromyographically, a lesion of the lower motor neurons--"nuclear ophthalmoplegia"--was found. Three members of the family had different stages of progressive chorioretinal sclerosis and two had myopia. All the family members had lingua scrotalis, and all of those who had ophthalmoplegia had low IQs. Electroretinographic reactions were subnormal or absent in patients with chorioretinal degeneration. It was concluded that an extensive abiotrophic process, genetically conditioned, was a possibility.
...
PMID:Progressive nuclear ophthalmoplegia associated with mental deficiency, lingua scrotalis, and other neurologic and ophthalmologic signs in a family. 116 9
Most cases of periaqueductal tumours were found in children and adolescents, so treatment modalities in adults are not evaluated yet. A case of 40 years old woman with tectal and periaqueductal protoplasmatic astrocytoma grade II with history of headache and episodes of syncope is described. MRI showed triventricular hydrocephalus. After a shunt procedure she was doing well for about 15 months. Then she became somnolent, disoriented, and
Parinaud syndrome
appeared. The solid tumour was resected microsurgically in one stage. A part of it was removed via the supracerebellar infratentorial approach and tectal plate incision. The remainder of the tumour was removed through the fourth ventricle and the aqueduct which was filled by tumour mass. Postoperatively bilateral
ptosis
, vertical gaze palsy, slight horizontal gaze limitation and pupilloplegia were the main neurological sequelae. They all almost completely resolved within a year. The patient is doing well two and half years after the surgery. MRI showed patency of the aqueduct and no residual tumour. The authors suggest, that direct surgical attempt at total tumour removal should be considered in cases of periaqueductal and tectal gliomas. They also believe it is the first described case, in whom this type of tumour was totally removed by a combined transtectal and transaqueductal route.
...
PMID:One stage removal of periaqueductal glioma in adult via infratentorial supracerebellar and transaqueductal approaches. 1496 51
The eyelid movements are mediated mainly by the orbicularis oculi (OO) and the levator palpebrae superioris (LPS) muscles. Dissociated upper lid functions exhibit different counterbalanced action of these muscles, and in blinking they show a strictly reciprocal innervation. The disturbance of this close LPS-OO relationship likely leads to many of the central lid movement disorders. Three groups of supranuclear motor impairment of lid movements are considered: the disorders of the lid-eye movements' coordination, the disturbances of blinking and lid "postural" maintenance, and the alteration of voluntary lid movements. Nuclei of the posterior commissure control the inhibitory modulation of LPS motor-neuronal activity and they are involved in the lid-eye coordination disorders such as lid retraction, which is observed in the
Parinaud's syndrome
and also in parkinsonism and progressive supranuclear palsy. Spontaneous (SB) and reflex blinking consist of two components: the inhibition of the basal tonic LPS activity, which keeps the eyes open, and the concurrent activation of the OO muscles. LPS inhibition precedes and outlasts the OO activation. This normal configuration is impaired in parkinsonism and blepharospasm (BSP). SB shows a highly interindividual rate variation (among 10-20 per minute in adults) and abnormal blink rates occur in neurological diseases related to dopaminergic transmission impairments. Lid postural abnormalities include involuntary eyelid closure, which is usually associated with inability to open the eyes. Two major disorders share these two aspects: BSP and blepharocolysis (BCO). BSP consists of an involuntary overactivity of the OO, with LPS co-contraction activity, and is expressed as frequent and prolonged blinks, clonic bursts, prolonged tonic contraction or a blend of all of them. BCO (commonly named "so-called lid opening apraxia") is an overinhibition of the LPS with no evidence of ongoing OO activity. BSP and BCO occur in many instances of idiopathic dystonias and basal ganglia diseases and, less frequently, in rostral brainstem lesions. Both may coincide in the same patient. Voluntary lid movement disorders comprise the impairment of Bell's phenomenon, the voluntary eyelid closure palsy and the so-called cerebral
ptosis
, all related to lesions of frontal cortical areas and/or the corticospinal system.
...
PMID:Eyelid movements in health and disease. The supranuclear impairment of the palpebral motility. 1503 Jul 96
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.
...
PMID:Parinaud's syndrome due to an unilateral vascular ischemic lesion. 2564 59
Hydrocephalus may cause
Parinaud's syndrome
which consists of vertical gaze palsy, convergence palsy, lid retraction and pupil light-near dissociation. We are aware of only two prior reports of hydrocephalus presenting with bilateral
ptosis
. Both were cured by ventriculoperitoneal shunts. We report a 28-month-old girl who presented acute bilateral
ptosis
but full eye movements both sides. Neuroimages revealed chronic hydrocephalus and aqueductal stenosis. The bilateral
ptosis
resolved quickly after endoscopic third ventriculostomy (ETV).
...
PMID:Hydrocephalus due to aqueductal stenosis presenting with acute bilateral ptosis: case report. 3184 9