1/93. Schwannoma in patients with isolated unilateral trochlear nerve palsy.PURPOSE: To describe the clinical features of patients with isolated unilateral trochlear nerve palsy secondary to imaging-defined schwannoma of the trochlear nerve. methods: A chart review of all patients seen at the Neuro-ophthalmology Unit at Emory University since 1989. Of 221 patients with trochlear nerve palsy, six had a lesion consistent with a trochlear nerve schwannoma. RESULTS: The six patients had isolated unilateral trochlear nerve palsy. Duration of diplopia before diagnosis averaged 6 months. magnetic resonance imaging demonstrated circumscribed, enhancing lesions along the cisternal course of the trochlear nerve, all measuring less than 5 mm in greatest dimension. Five of the patients were seen in follow-up, over periods ranging from 11 to 26 months from initial presentation (mean, 15.6 months; standard deviation, 6.0 months). All of these patients remained stable except one, who was slightly worse at 15 months by clinical measurements and magnetic resonance imaging. None of these patients have developed additional symptoms or signs of cranial nerve or central nervous system involvement. CONCLUSIONS: The differential diagnosis of an isolated unilateral fourth cranial nerve palsy should include an intrinsic neoplasm of the trochlear nerve. magnetic resonance imaging is useful, both for diagnosis and follow-up. These patients can remain stable and may not require neurosurgical intervention.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/93. 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 = 6keywords = nervous system (Clic here for more details about this article) |
3/93. Acute onset of a bilateral areflexical mydriasis in Miller-Fisher syndrome: a rare neuro-ophthalmologic disease.Miller-Fisher syndrome (MFS) is characterized by variable ophthalmoplegia, ataxia, and tendon areflexia. It seems to be a variant of guillain-barre syndrome (GBS), but unlike in GBS, there is a primitive involvement of the ocular motor nerves, and in some cases there is brainstem or cerebellum direct damage. The unusual case of MFS in the current study started with a bilateral areflexical mydriasis and a slight failure of accommodative-convergence. Ocular-movement abnormalities developed progressively with a palsy of the upward gaze and a bilateral internuclear ophthalmoplegia to a complete ophthalmoplegia. In the serum of this patient, high titers of an IgG anti-GQ1b ganglioside and IgG anti-cerebellum. anti-purkinje cells in particular, were found. The former autoantibody has been connected to cases of MFS, of GBS with associated ophthalmoplegia, and with other acute ocular nerve palsies. The anti-cerebellum autoantibody could explain central nervous system involvement in MFS. The role of these findings and clinical implications in MFS and in other neuro-ophthalmologic diseases are discussed.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
4/93. Correlation of clinical and neuroradiological findings in down-gaze palsy.BACKGROUND: Isolated down-gaze palsy is the least common pathology of vertical gaze. patients with low-gaze palsy may consult an ophthalmologist with difficulty in reading and this may be the only ocular finding of a central nervous system lesion. methods: A 43-year-old man with isolated down-gaze palsy was examined. The medical history of the patient revealed that he had had myocardial infarction. RESULT: magnetic resonance imaging disclosed an ischemic area at the right thalamus. CONCLUSION: Down-gaze palsy may be an important sign for the diagnosis of thalamic infarctions due to embolic syndrome.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
5/93. Neuro-ophthalmic sarcoidosis.sarcoidosis is a multisystem disorder in which ocular involvement occurs in about one-quarter and neurosarcoidosis in 7 per cent of patients. When the retina is involved, the reported incidence of central nervous system sarcoidosis is 37 per cent. The patient described had a transient papular eruption of the legs, bilateral hilar lymphadenopathy, polyarthralgia with knee effusions, and bilateral facial and peripheral neuropathy. Ocular involvement was characterized by anterior uveitis (in the initial stages), vitreous flare, bilateral disc oedema, macular oedema, streak haemorrhages, peripheral periphlebitis, nerve fibre bundle defects, and candle-wax spots. fluorescein angiography showed no fluorescence of the candle-wax spots nor of the adjacent vessels. However, there was hyperfluorescence of two retinal lesions. This patient had unilateral internal ophthalmoplegia, only three cases of which have been reported in the literature. Her health was restored by heavy, prolonged corticosteroid therapy. Her family history revealed that an uncle died of sarcoidosis complicated by cryptococcal meningitis. The literature on retinopathy in sarcoidosis is reviewed and the lesions noted in the posterior segment are listed.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
6/93. Unusual presentation of central nervous system relapse with oculomotor nerve palsy in a case of CD56-positive acute myeloid leukemia following allogeneic stem cell transplantation.Allogeneic stem cell transplantation (allo-SCT) plays an important role in the treatment of infants and children with acute myelogenous leukemia (AML). Leukemic relapse after allo-SCT is responsible for a high rate of treatment failure. Extra-medullary relapse (EMR), without involvement of bone marrow, is rare compared to medullary relapse. CD56, the neural cell adhesion molecule, may contribute to the higher frequency of CNS relapse in CD56-positive AML. We observed an isolated EMR on the oculomotor nerve of a 17-month-old girl 12 weeks after cord blood transplantation (CBT), who was transplanted because of CD56-positive AML. diagnosis of relapse was suspected clinically and confirmed by magnetic resonance imaging (MRI), and fluorescence-activated cell sorter (FACS) and chimerism analysis of cerebrospinal fluid (CSF). Therapy consisted of intra-thecal chemotherapy, CNS irradiation, and systemic immunomodulation by cyclosporin A (CsA) and basiliximab withdrawal. Twenty-one months after relapse, the patient shows full remission of symptoms and previously described oculomotor nerve infiltration.- - - - - - - - - - ranking = 4keywords = nervous system (Clic here for more details about this article) |
7/93. Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.At least six different forms of congenital muscular dystrophy are associated with structural changes of the central nervous system, and three of these have been mapped: merosin-deficient congenital muscular dystrophy on chromosome 6q2, Fukuyama congenital muscular dystrophy on chromosome 9q31, and muscle eye brain disease on chromosome 1p32. walker-warburg syndrome, congenital muscular dystrophy with calf hypertrophy, pontocerebellar hypoplasia, and normal eyes, and congenital muscular dystrophy with severe mental retardation and cerebellar cysts are nosologically distinct and have been excluded from the known congenital muscular dystrophy loci with structural changes of the central nervous system. Here, we describe a novel congenital muscular dystrophy syndrome which is phenotypically distinct from the recognized forms of congenital muscular dystrophy with brain involvement. Two siblings, a boy and a girl, were born to consanguineous parents from sicily. Both children were born with adducted thumbs and toe contractures. They were floppy from birth, walked late, showed profound generalized muscle weakness including facial muscles, elevated creatine kinase levels of 200-700U/l, and histological changes compatible with muscular dystrophy. In addition, both showed ptosis, external ophthalmoplegia, mild mental retardation, and mild cerebellar hypoplasia on MRI. Immunocytochemistry showed normal expression of muscle membrane proteins including laminin alpha 2, laminin beta 2, and alpha-dystroglycan. Linkage analysis excluded the candidate loci on chromosomes 6q2, 9q31, and 1q32. The gene locus for congenital muscular dystrophy 1B, MDC 1B, on chromosome 1q42 was also excluded. Adducted thumbs are a distinct clinical sign that has not been reported in congenital muscular dystrophy before and should facilitate recognition of further patients with this disorder.- - - - - - - - - - ranking = 2keywords = nervous system (Clic here for more details about this article) |
8/93. ophthalmoplegia and dissociated nystagmus in adetalipoproteinemia.A characteristic pattern of acquired exotropia, progressive paresis of the medial rectus muscles, and dissociated nystagmus on lateral gaze was found in three patients with abetalipoproteinemia. Study with electronystagmography of the eye movements of one patient revealed abnormally slow voluntary saccades and slow or absent fast components of vestibular nystagmus, optokinetic nystagmus, and jerk-type, disassociated nystagmus. Defects in central nervous system centers generating saccadic eye movements are postulated.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
9/93. Congenital fibrosis syndrome associated with central nervous system abnormalities.BACKGROUND: Congenital fibrosis of extraocular muscles (CFEOM) is a complex strabismus syndrome that typically occurs in isolation and results from dysfunction of all or part of cranial nerves III (CNIII) and IV (CNIV) and/or the muscles that these nerves innervate. Only a few patients with CFEOM and additional central nervous system malformations have been reported. We describe four additional patients with CFEOM associated with central nervous system (CNS) abnormalities. methods: Four patients who presented with congenital restriction of eye movements in association with neurological abnormalities underwent complete ophthalmological examination including electroretinography (ERG) and eye movement recordings. Neurological examinations, neuroradiological studies, muscle histology, chromosomal and genetic linkage analysis were performed. RESULTS: Clinical examination and forced duction testing confirmed that all four patients met criteria for CFEOM; all had congenital restrictive ophthalmoplegia primarily affecting extraocular muscles innervated by the oculomotor nerve. Two brothers had CFEOM and Marcus Gunn jaw winking. In each of the four cases, CFEOM occurred in association with one or several neuroradiological findings, including agenesis of the corpus callosum, colpocephaly, hypoplasia of the cerebellar vermis, expansion of the ventricular system, pachygyria, encephalocele and/or hydrancephaly. CONCLUSIONS: We present four cases of CFEOM in association with CNS malformations that confirm that CFEOM can be part of a more complex neurological dysfunction and provide further support to a neurogenic aetiology for this disorder. We also describe for the first time the coexistence of CFEOM and Marcus Gunn jaw winking in two siblings. This suggests a genetic mechanism. Aberrant innervation supports primary developmental abnormality of cranial nerves in CFEOM.- - - - - - - - - - ranking = 6.114555757134keywords = nervous system, malformation (Clic here for more details about this article) |
10/93. Burkitt's lymphoma with bilateral cavernous sinus and mediastinal involvement in a child.We report a 12-year-old boy who presented with incomplete right ophthalmoplegia, exophthalmos and headache. Initial CT and MRI revealed a mass in the right cavernous sinus. During tumour work-up, CT identified additional tumour within the mediastinum. biopsy of the mediastinal lesion identified Burkitt's lymphoma. We report on this case because radiologists and clinicians should be alerted to identify sites of primary Burkitt's lymphoma outside of the central nervous system if clinical symptoms indicate, or imaging shows, CNS lesions. Primary CNS involvement in Burkitt's lymphoma is rare.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
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