1/663. Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had postaxial polydactyly of both hands and one foot. In addition, there was evidence of aplasia of the pituitary gland on MRI scan in both of them with evidence of hypopituitarism. Both responded well to hormone replacement therapy with improvement in their linear growth and mental ability. These cases may represent a new autosomal recessive midline defect syndrome with features overlapping OFDS VI. Alternatively the features in these children could represent variability within OFDS VI.- - - - - - - - - - ranking = 1keywords = ophthalmoplegia (Clic here for more details about this article) |
2/663. Internuclear ophthalmoplegia following minor head injury: a case report.Internuclear ophthalmoplegia (INO) is a common sign of multiple sclerosis in young patients and of vascular diseases in older people. Traumatic bilateral internuclear ophthalmoplegia following severe head injuries may occur. We present the unusual case of a young patient suffered from bilateral INO as an isolated finding after a minor head injury, without other signs of brain stem or cortical injury. The ophthalmoplegia has persisted for 22 months.- - - - - - - - - - ranking = 1.75keywords = ophthalmoplegia (Clic here for more details about this article) |
3/663. Congenital myasthenia gravis: clinical and HLA studies in two brothers.Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases.- - - - - - - - - - ranking = 0.25keywords = ophthalmoplegia (Clic here for more details about this article) |
4/663. Vestibulo-ocular reflex pathways in internuclear ophthalmoplegia.We measured the vestibulo-ocular reflex (VOR) during head impulses in a patient with right-sided internuclear ophthalmoplegia. Head impulses are rapid, passive, high-acceleration, low-amplitude head rotations in the direction of a particular semicircular canal (SCC). Adduction of the right eye was abnormally slow during right lateral SCC head impulses. The VOR during left posterior SCC impulses was severely deficient in both eyes, but the VOR during left anterior SCC impulses was only slightly deficient. We suggest that the vertical vestibulo-ocular pathways in humans are connected in SCC-plane coordinates, not the traditional roll and pitch coordinates, and that anterior SCC signals do not travel exclusively in the medial longitudinal fasciculus.- - - - - - - - - - ranking = 1.25keywords = ophthalmoplegia (Clic here for more details about this article) |
5/663. Bilateral ophthalmoplegia and exophthalmos complicating central hemodialysis catheter placement.We describe a 58-year-old woman who presented with bilateral ophthalmoplegia, exophthalmos, and headache and was found to have retrograde internal jugular vein flow secondary to a high-grade obstruction of the ipsilateral brachiocephalic vein from a previous hemodialysis catheter placement. The patient had also a high-flow dialysis graft in the ipsilateral arm. The cranial and extracranial venous system congestion resolved, and the signs disappeared soon after a balloon angioplasty and stent placement at the level of the obstruction.- - - - - - - - - - ranking = 1.25keywords = ophthalmoplegia (Clic here for more details about this article) |
6/663. meningioma presenting as tolosa-hunt syndrome.A 23-year-old woman was admitted with headache, nausea, vomiting and blurred vision on the left side. Neurological examination showed ptosis with a complete internal and external ophthalmoplegia and a red fullness around the left orbita. Computed tomographic scanning of the brain revealed no abnormalities. As she improved on high doses of steroids a diagnosis of tolosa-hunt syndrome (THS) seemed to be indicated. However, magnetic resonance imaging (MRI) showed a lesion with intermediate signal intensity in the left cavernous sinus. craniotomy was performed when symptoms of THS recurred. Histopathological examination revealed a meningioma with a papillary aspect and some mitoses. This case illustrates that: (1) THS is still a diagnosis by exclusion; (2) MRI and histopathological examination are important if there is any doubt about the diagnosis; and (3) also when there is no doubt, improvement after steroid therapy may be a diagnostic pitfall. Therefore, not only MRI but also orbital phlebography and angiography should seriously be considered.- - - - - - - - - - ranking = 0.25keywords = ophthalmoplegia (Clic here for more details about this article) |
7/663. Neuro-ophthalmic complication after maxillary surgery.We report an unusual case of ophthalmoplegia after maxillofacial surgery. A thirteen year old girl with unilateral left cleft lip and palate underwent maxillary advancement by distraction osteogenesis. Postoperatively she developed diplopia. The diplopia was not due to orbital lesions, most often seen after maxillofacial surgery, but to a haemorrhage posterior to the cavernous sinus.- - - - - - - - - - ranking = 0.25keywords = ophthalmoplegia (Clic here for more details about this article) |
8/663. Wall-eyed bilateral internuclear ophthalmoplegia in central nervous system cryptococcosis.Only one case of wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) has been described in central nervous system cryptococcosis. The disorder was initially unilateral, then became bilateral with skew deviation and vertical upgaze deficit. We report a case of WEBINO in central nervous system cryptococcosis in a patient with acquired immune deficiency syndrome. magnetic resonance imaging revealed high signal on T2 images in the right midbrain, left frontal vertex, left splenium, and cerebellum. With treatment, the internuclear ophthalmoplegia improved; however, the convergence insufficiency remained. Disruption of input from cortical supranuclear locations or the region of the rostral interstitial nucleus of the medial longitudinal fasciculus has been proposed as a mechanism in the absence of convergence. This correlates in our patient with the lesions seen on magnetic resonance images.- - - - - - - - - - ranking = 1.5047203175346keywords = ophthalmoplegia, supranuclear (Clic here for more details about this article) |
9/663. Disseminated histoplasmosis causing reversible gaze palsy and optic neuropathy.Subacute disseminated histoplasmosis is an uncommon entity. Typical neuro-ophthalmologic manifestations are usually secondary to histoplasmomas or encephalitis. A 45-year-old man noted blurred vision while receiving empiric antituberculosis therapy for fever and diffuse granulomatous disease of unknown origin. Vertical-gaze palsy, right horizontal-gaze paresis, and mild right optic neuropathy were found on neuro-ophthalmologic examination. Further questioning revealed a history of frequent contact with fighting cocks from south america. Magnetic resonance images were consistent with multiple hemorrhagic infarcts, areas of inflammation, or both, and cerebral angiography showed changes consistent with vasculitis. A previously obtained biopsy specimen from the duodenum was restained and found to be positive for fungal elements. serum antigen titers for histoplasma capsulatum demonstrated evidence of active infection. This case is a rare example of a supranuclear ocular motility disturbance and optic neuropathy secondary to an occlusive vascular process in a patient with subacute disseminated histoplasmosis.- - - - - - - - - - ranking = 0.0047203175345501keywords = supranuclear (Clic here for more details about this article) |
10/663. Clinical genetics of familial progressive supranuclear palsy.Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable including 34 typical cases of PSP (12 probands plus 22 secondary cases), three patients with postural tremor, three with dementia, one with parkinsonism, two with tremor, dystonia, gaze palsy and tics, and one with gait disturbance. The presence of affected members in at least two generations in eight of the families and the absence of consanguinity suggests autosomal dominant transmission with incomplete penetrance. We conclude that hereditary PSP is more frequent than previously thought and that the scarcity of familial cases may be related to a lack of recognition of the variable phenotypic expression of the disease.- - - - - - - - - - ranking = 0.028677997668789keywords = supranuclear, progressive supranuclear, supranuclear palsy (Clic here for more details about this article) |
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