Sample records for ophthalmoplegia

  1. Internuclear Ophthalmoplegia (United States)

    ... Commentary Recent News Scientists Working on Solar-Powered Prosthetic Limbs Exercise a Great Prescription to Help Older Hearts Bavencio Approved for Rare Skin Cancer Older Mothers May Raise Better-Behaved Kids, Study Suggests ... damage to certain connections between nerve centers in the brain stem (the lower part of the brain). In internuclear ophthalmoplegia, the ...

  2. Sleep disturbances in chronic progressive external ophthalmoplegia.

    NARCIS (Netherlands)

    Smits, B.W.; Westeneng, H.J.; Hal, M.A. van; Engelen, B.G.M. van; Overeem, S.


    BACKGROUND: Chronic progressive external ophthalmoplegia (CPEO) is a relatively common mitochondrial disorder. In addition to extraocular muscle weakness, various other organs can typically be affected, including laryngeal and limb muscles, cerebrum, cerebellum, and peripheral nerves. Given this mul

  3. An unusual case of total ophthalmoplegia

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    Chowdhury Ravindra


    Full Text Available An eight-year-old male child presented with drooping of the left eyelid with a history of penetrating injury of hard palate by an iron spoon seven days ago, which had already been removed by the neurosurgeon as the computed tomography scan revealed a spoon in the left posterior ethmoid and sphenoid bone penetrating into the middle cranial fossa. On examination, visual acuity was 20/20 in each eye and left eye showed total ophthalmoplegia. Oral cavity revealed a hole in the left lateral part of the hard palate. We managed the case with tapering dose of systemic prednisolone. The total ophthalmoplegia was markedly improved in one month. Cases of foreign bodies in the orbit with intracranial extension are not unusual, but the path this foreign body traveled through the hard palate without affecting the optic nerve, internal carotid artery or cavernous sinus makes an interesting variation.

  4. [Progressive external ophthalmoplegia and distal myopathy]. (United States)

    Damian, C


    A patient, 58 years old, presents progressive blepharoptosis, in both eyes and external ophthalmoplegia. The general somatic examination, shows, at the level of the higher limbs, distal myopathy with muscular hypotony and articular deformities fibrosis and tendinous retraction. On examining the eye bottom we found colloid degeneration in the muscle region. Within the same family a ten-year-old nephew presents congenital ptosis. The muscular biopsy from the levator palpebrae shows muscular degenerative lesions with the reduction of nuclei and the proliferation of conjunctive tissue. It is shown that progressive external ophthalmoplegia must be interpreted as an ocular myopathy. The association with the distal myopathy at the level of the higher limbs, in the presented observation, upholds this pathogeny.

  5. Unilateral external ophthalmoplegia in Miller Fisher syndrome: case report

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    Severn Philip


    Full Text Available Abstract Background A description of the diagnostic features of Miller Fisher syndrome. Case presentation The clinical presentation, investigation, and subsequent progress of our patient with clinical unilateral external ophthalmoplegia. Conclusion Our case demonstrates the presentation of clinical unilateral external ophthalmoplegia as part of the full triad of Miller Fisher syndrome.

  6. Internuclear Ophthalmoplegia Secondary to Cocaine Abuse

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    Richard L. Rabin


    Full Text Available Purpose. To report a case of internuclear ophthalmoplegia (INO caused by cocaine. Method. We report a case of a 54-year-old female who presented with a left INO three days after snorting cocaine, and we review the literature. Results. MRI of the brain demonstrated several small abnormal foci in the pons on FLAIR and diffusion weighted imaging consistent with ischemic infarction. The patient’s symptoms remained stable throughout her hospitalization. She was sent to a rehabilitation facility and was lost to follow-up. Conclusion. In cases of extraocular movement abnormalities, it is important to inquire about recreational drug use.

  7. Recurrent ophthalmoplegia in childhood: diagnostic and etiologic considerations

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    Oestergaard, J.R.; Moeller, H.U.; Christensen, T.


    The authors present two patients with recurrent painful ophthalmoplegia starting in early childhood. Clinically, both patients fulfilled the criteria for ophthalmologic migraine. In one case, magnetic resonance investigations were performed following the second attack, between the third and fourth and during the fourth attack. The left third cranial nerve was significantly thickened in its course from the brainstem through the prepontine cistern to the cavernous sinus during the attacks and moderately thickened between the attacks. In the second case, magnetic resonance imaging was performed during the 14th attack, when the oculomotor nerve dysfunction was almost permanent, and the imaging demonstrated a swollen oculomotor nerve. Whether these finding are pathognomonic of ophthalmoplegic migraine awaits further reports using magnetic resonance imaging in infants showing recurrent painful ophthalmoplegia of eraly onset. 17 refs.

  8. Spheniodal mucocele causing bilateral optic neuropathy and ophthalmoplegia

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    Ambika Selvakumar


    Full Text Available Sphenoid sinus mucocele comprises only 2% of all paranasal sinus mucoceles. In literature, there is a case report on sphenoidal mucocele causing bilateral optic neuropathy, with unilateral partial recovery and cranial nerve palsy, but we did not come across any literature with bilateral optic neuropathy and ophthalmoplegia together caused by spheno-ethmoidal mucocele. We present such a rare case of spheno-ethmoidal mucocele causing bilateral optic neuropathy and unilateral sixth nerve palsy who had postsurgery, unilateral good vision recovery, and complete resolution of sixth nerve palsy.

  9. Bilateral ophthalmoplegia and exophthalmos complicating central hemodialysis catheter placement. (United States)

    Varelas, P N; Bertorini, T E; Halford, H


    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.

  10. Spheniodal mucocele causing bilateral optic neuropathy and ophthalmoplegia. (United States)

    Selvakumar, Ambika; Mahalaxmi, Balasubramanyam; Ananth, V; Gautam, Cugati


    Sphenoid sinus mucocele comprises only 2% of all paranasal sinus mucoceles. In literature, there is a case report on sphenoidal mucocele causing bilateral optic neuropathy, with unilateral partial recovery and cranial nerve palsy, but we did not come across any literature with bilateral optic neuropathy and ophthalmoplegia together caused by spheno-ethmoidal mucocele. We present such a rare case of spheno-ethmoidal mucocele causing bilateral optic neuropathy and unilateral sixth nerve palsy who had postsurgery, unilateral good vision recovery, and complete resolution of sixth nerve palsy.

  11. Complications of vision loss and ophthalmoplegia during endoscopic sinus surgery

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    Maharshak I


    Full Text Available Idit Maharshak,1,2 Jenny K Hoang,3 M Tariq Bhatti2,4 1Department of Ophthalmology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; 2Department of Ophthalmology, 3Department of Radiology (Division of Neuroradiology, 4Department of Medicine (Division of Neurology, Duke Eye Center and Duke University Medical Center, Durham, NC, USA Objective: To describe two rare cases of concurrent vision loss and external ophthalmoplegia following powered endoscopic sinus surgery (ESS. Design: Observational case report. Results: The records of two patients who underwent powered ESS and developed multiple concurrent ophthalmic complications were retrospectively reviewed for clinical history, neuro-ophthalmologic examination, and imaging findings. Patient 1 developed a retinal vascular occlusion and complete loss of adduction. Patient 2 developed an orbital hemorrhage, optic neuropathy, and a restrictive global ophthalmoplegia. Similar published case reports were also reviewed. Conclusion: Despite advances in powered ESS technique and instrumentation, serious ophthalmic complications can still occur. Inadvertent entry into the medial orbital wall can result in a combination of blindness and ocular motility dysfunction. The variety of mechanisms responsible for these complications underscores the importance of thorough pre- and postoperative clinical examination and review of imaging studies. Keywords: sinus surgery, orbit, extra ocular muscle injury, blindness

  12. Bilateral internuclear ophthalmoplegia as first manifestation of extra pontine myelinolysis

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    Tushar Kanti Bandyopadhyay, Rudrajit Paul, Amit K Das, Rathindranath Sarkar


    Full Text Available Extrapontine myelinolysis (EPM is a rare clinical entity affecting anterior basal ganglia. This is one of the osmotic demyelination syndromes. It occurs due to rapid correction of hyponatremia and also rarely occurs in alcoholics. It generally presents with extrapyramidal symptoms. We here report a case of EPM in a 13 year old boy presenting with bilateral internuclear ophthalmoplegia and ptosis. The patient also had generalised weakness, but no psychiatric symptoms. The patient slowly recovered over six months. EPM can affect any age group, although the elderly are more likely to be affected due to frequent electrolyte abnormalities. Ocular movement disorders or brainstem signs are rarely reported in EPM. When present, it can create diagnostic confusion with multiple sclerosis. We believe this is the first report of this entity from India. The relevant literature regarding brainstem manifestations in myelinolysis syndromes is also discussed, along with the radiological findings.

  13. Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia

    NARCIS (Netherlands)

    Smits, B.W.; Heijdra, Y.F.; Cuppen, F.; Engelen, B.G. van


    Chronic progressive external ophthalmoplegia (CPEO) is a relatively common mitochondrial disorder. Weakness of the extra-ocular, limb girdle and laryngeal muscles are established clinical features. Respiratory muscle involvement however has never been studied systematically, even though respiratory

  14. Cogan’s anterior internuclear ophthalmoplegia in young Ethiopian

    African Journals Online (AJOL)

    Yeshigeta Gelaw


    Jun 16, 2014 ... a rare clinical spectrum of internuclear ophthalmoplegia called Cogan's anterior internuclear ... systemic lupus erythematosus.1–5. To the best of the author's ... neurological symptoms and no family history of known neuro-.

  15. Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.


    Sugie, H.; Hanson, R.; Rasmussen, G.; Verity, M A


    We report a 7-year-old boy with progressive, early onset somatic and cranial muscle weakness associated with external ophthalmoplegia, facial weakness, type I fibre hypotrophy and myofibril degeneration. We separate this condition from congenital fibre type disproportion because of the facial weakness, ophthalmoplegia, central nucleation, and lysis in type I fibres. The case, which is similar to that described by Bender and Bender (1977), nosologically should be classified between the centron...

  16. Ocular vestibular evoked myogenic potentials are abnormal in internuclear ophthalmoplegia. (United States)

    Rosengren, S M; Colebatch, J G


    The cervical vestibular evoked myogenic potential (cVEMP) is sensitive to lower brainstem lesions affecting the vestibulo-collic pathway. We wished to determine whether the ocular VEMP (oVEMP), a recently-described otolith-ocular reflex, is also abnormal in patients with brainstem lesions. We tested patients with internuclear ophthalmoplegia (INO), caused by a brainstem lesion in the medial longitudinal fasciculus (MLF), to investigate whether the oVEMP is abnormal in patients with a lesion of the otolith-ocular pathway. We describe a patient who developed a right INO during his first episode of demyelination, and report results from 12 additional patients, most of whom had multiple sclerosis. All subjects were stimulated with air-conducted tone bursts. cVEMPs and oVEMPs were measured using surface electrodes placed over the neck and beneath the eyes. Overall, oVEMPs showed significantly more abnormalities (69%) than cVEMPs (8%). Ocular VEMPs were absent with stimulation of 13/26 ears, significantly delayed in 5/26 cases and normal in only 8/26 cases. Ocular VEMPs are often abnormal in patients with multiple sclerosis who have an INO, while cVEMPs are usually normal. Ocular VEMPs provide a new, non-invasive method for examining central vestibular pathways in humans and are sensitive to lesions of the MLF. Copyright © 2010 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  17. Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy

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    Jessica Mani Penny Tevaraj


    Full Text Available Neurofibromatosis type 2 usually presents with bilateral acoustic schwannomas. We highlight the rare presentation of neurofibromatosis initially involving third nerve. A 23-year-old Malay female presented with left eye drooping of the upper lid and limitation of upward movement for 8 years. It was associated with right-sided body weakness, change in voice, and hearing disturbance in the right ear for the past 2 years. On examination, there was mild ptosis and limitation of movement superiorly in the left eye. Both eyes had posterior subcapsular cataract. Fundoscopy showed generalised optic disc swelling in both eyes. She also had palsy of the right vocal cord, as well as the third and eighth nerve. There was wasting of the distal muscles of her right hand, with right-sided decreased muscle power. Pedunculated cutaneous lesions were noted over her body and scalp. MRI revealed bilateral acoustic and trigeminal schwannomas with multiple extra-axial lesions and intradural extramedullary nodules. Patient was diagnosed with neurofibromatosis type 2 and planned for craniotomy and tumour debulking, but she declined treatment. Neurofibromatosis type 2 may uncommonly present with isolated ophthalmoplegia, so a thorough physical examination and a high index of suspicion are required to avoid missing this condition.

  18. A case of polymyositis with ophthalmoplegia Laboratory examinations

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    Shunchang Han; Chuanqiang Pu; Xusheng Huang; Senyang Lang; Weiping Wu


    OBJECTIVE: Polymyositis (PM) mainly involves proximal limb and trunk muscles. Ocular muscles are not affected, except in rare cases with both PM and myasthenia gravis (MG). Thus, the results of laboratory examinations in such a patient deserve to be reported.METHODS: To analyze the clinical, imaging and pathology datas on a 65-year-old woman patient with PM with complex symptoms, who presented mainly ophthalmoplegia. The patient consented to all examinations and the hospital Ethics Committee approved the study. The laboratory examinations included creatine kinase (CK), ENA, tumor marker, function of thyroid, cranial MRI, and electromyogram (EMG). Biopsy of the left quadriceps femoris was performed, frozen specimens were stained with hematoxylin and eosin, ATPase, NADH tetrazolium reductase, periodic acid Schiff, oil red O, modified Gomory trichrome and MHC-I, to investigate the pathology of muscle fibersRESULTS: Laboratory results showed: CK, 108.32μkat/L; antinuclear antibody: (+); ENA, (-); tumor marker, (-); normal thyroid function, MRI showed no abnormal signals in brain and extraocular muscles. Electromyography of the bilateral deltoid, biceps brachii, musculus quadriceps fexoris, anterior tibialis showed fibrillation potentials, positive potentials and short-duration, small-amplitude polyphasic potentials on voluntary movements with a full interference pattern on mild exertion. Repetitive stimulation did not result in any increment or decrement in these potentials. A muscle biopsy of the left quadriceps femoris showed many small round muscle fibers without peripheral bundle distribution and apparent myofiber degeneration, necrosis and phagocytosis. There were several focal lymphocyte infiltrations. MHC-I immunohistochemical staining was positive in most fibers revealing inflammatory infiltration of normal fibers with MHC-I expression. CONCLUSION: This patient showed increased CK, typical triad of myopathy in EMG, and apparent degeneration and necrosis in

  19. 痛性眼肌麻痹伴急性鼻窦炎1例%One patient with painful ophthalmoplegia and acute rhinosinusitis

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    李戍军; 薛明学; 孙波


    Summary By analyzing the diagnosis and treatment of a patient who suffered from painful ophthalmoplegia and acute rhinosinusitis, authors further identified the clinical features of painful ophthalmoplegia, and the differential diagnosis of those diseases which might cause migraine and ophthalmoplegia to avoid clinical misdiagnosis and mistreatment.

  20. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). (United States)

    Agostino, A; Valletta, L; Chinnery, P F; Ferrari, G; Carrara, F; Taylor, R W; Schaefer, A M; Turnbull, D M; Tiranti, V; Zeviani, M


    To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive external ophthalmoplegia with multiple mtDNA deletions.

  1. Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration. (United States)

    Sugie, H; Hanson, R; Rasmussen, G; Verity, M A


    We report a 7-year-old boy with progressive, early onset somatic and cranial muscle weakness associated with external ophthalmoplegia, facial weakness, type I fibre hypotrophy and myofibril degeneration. We separate this condition from congenital fibre type disproportion because of the facial weakness, ophthalmoplegia, central nucleation, and lysis in type I fibres. The case, which is similar to that described by Bender and Bender (1977), nosologically should be classified between the centronuclear myopathies and congenital fibre type disproportion, and most likely represents a congenital or neonatal disturbance of trophic interaction between nerve and muscle.

  2. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. (United States)

    Pfeffer, Gerald; Gorman, Gráinne S; Griffin, Helen; Kurzawa-Akanbi, Marzena; Blakely, Emma L; Wilson, Ian; Sitarz, Kamil; Moore, David; Murphy, Julie L; Alston, Charlotte L; Pyle, Angela; Coxhead, Jon; Payne, Brendan; Gorrie, George H; Longman, Cheryl; Hadjivassiliou, Marios; McConville, John; Dick, David; Imam, Ibrahim; Hilton, David; Norwood, Fiona; Baker, Mark R; Jaiser, Stephan R; Yu-Wai-Man, Patrick; Farrell, Michael; McCarthy, Allan; Lynch, Timothy; McFarland, Robert; Schaefer, Andrew M; Turnbull, Douglass M; Horvath, Rita; Taylor, Robert W; Chinnery, Patrick F


    Despite being a canonical presenting feature of mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large proportion of patients. Here we show that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions. After excluding known causes, whole exome sequencing, targeted Sanger sequencing and multiplex ligation-dependent probe amplification analysis were used to study 68 adult patients with progressive external ophthalmoplegia either with or without multiple mitochondrial DNA deletions in skeletal muscle. Nine patients (eight probands) were found to carry compound heterozygous SPG7 mutations, including three novel mutations: two missense mutations c.2221G>A; p.(Glu741Lys), c.2224G>A; p.(Asp742Asn), a truncating mutation c.861dupT; p.Asn288*, and seven previously reported mutations. We identified a further six patients with single heterozygous mutations in SPG7, including two further novel mutations: c.184-3C>T (predicted to remove a splice site before exon 2) and c.1067C>T; p.(Thr356Met). The clinical phenotype typically developed in mid-adult life with either progressive external ophthalmoplegia/ptosis and spastic ataxia, or a progressive ataxic disorder. Dysphagia and proximal myopathy were common, but urinary symptoms were rare, despite the spasticity. Functional studies included transcript analysis, proteomics, mitochondrial network analysis, single fibre mitochondrial DNA analysis and deep re-sequencing of mitochondrial DNA. SPG7 mutations caused increased mitochondrial biogenesis in patient muscle, and mitochondrial fusion in patient fibroblasts associated with the clonal expansion of mitochondrial DNA mutations. In conclusion, the SPG7 gene should be screened in patients in whom a disorder of mitochondrial DNA maintenance is suspected when spastic ataxia is prominent. The complex neurological phenotype is likely a result of the clonal

  3. Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.

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    Cynthia Yu-Wai-Man

    Full Text Available Chronic progressive external ophthalmoplegia (CPEO is a classical mitochondrial ocular disorder characterised by bilateral progressive ptosis and ophthalmoplegia. These ocular features can develop either in isolation or in association with other prominent neurological deficits (CPEO+. Molecularly, CPEO can be classified into two distinct genetic subgroups depending on whether patients harbour single, large-scale mitochondrial DNA (mtDNA deletions or multiple mtDNA deletions secondary to a nuclear mutation disrupting mtDNA replication or repair. The aim of this magnetic resonance imaging (MRI study was to investigate whether the ophthalmoplegia in CPEO is primarily myopathic in origin or whether there is evidence of contributory supranuclear pathway dysfunction.Ten age-matched normal controls and twenty patients with CPEO were recruited nine patients with single, large-scale mtDNA deletions and eleven patients with multiple mtDNA deletions secondary to mutations in POLG, PEO1, OPA1, and RRM2B. All subjects underwent a standardised brain and orbital MRI protocol, together with proton magnetic resonance spectroscopy in two voxels located within the parietal white matter and the brainstem.There was evidence of significant extraocular muscle atrophy in patients with single or multiple mtDNA deletions compared with controls. There was no significant difference in metabolite concentrations between the patient and control groups in both the parietal white matter and brainstem voxels. Volumetric brain measurements revealed marked cortical and cerebellar atrophy among patients with CPEO+ phenotypes.The results of this study support a primary myopathic aetiology for the progressive limitation of eye movements that develops in CPEO.

  4. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. (United States)

    Horga, Alejandro; Pitceathly, Robert D S; Blake, Julian C; Woodward, Catherine E; Zapater, Pedro; Fratter, Carl; Mudanohwo, Ese E; Plant, Gordon T; Houlden, Henry; Sweeney, Mary G; Hanna, Michael G; Reilly, Mary M


    Progressive external ophthalmoplegia is a common clinical feature in mitochondrial disease caused by nuclear DNA defects and single, large-scale mitochondrial DNA deletions and is less frequently associated with point mutations of mitochondrial DNA. Peripheral neuropathy is also a frequent manifestation of mitochondrial disease, although its prevalence and characteristics varies considerably among the different syndromes and genetic aetiologies. Based on clinical observations, we systematically investigated whether the presence of peripheral neuropathy could predict the underlying genetic defect in patients with progressive external ophthalmoplegia. We analysed detailed demographic, clinical and neurophysiological data from 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia. Seventy-eight patients (67%) had a single mitochondrial DNA deletion, 12 (10%) had a point mutation of mitochondrial DNA and 26 (22%) had mutations in either POLG, C10orf2 or RRM2B, or had multiple mitochondrial DNA deletions in muscle without an identified nuclear gene defect. Seventy-seven patients had neurophysiological studies; of these, 16 patients (21%) had a large-fibre peripheral neuropathy. The prevalence of peripheral neuropathy was significantly lower in patients with a single mitochondrial DNA deletion (2%) as compared to those with a point mutation of mitochondrial DNA or with a nuclear DNA defect (44% and 52%, respectively; Pneuropathy as the only independent predictor associated with a nuclear DNA defect (P=0.002; odds ratio 8.43, 95% confidence interval 2.24-31.76). Multinomial logistic regression analysis identified peripheral neuropathy, family history and hearing loss as significant predictors of the genotype, and the same three variables showed the highest performance in genotype classification in a decision tree analysis. Of these variables, peripheral neuropathy had the highest specificity (91%), negative predictive value

  5. Vincristine-Induced Neuropathy Presenting as Ptosis and Ophthalmoplegia in a 2-Year-Old Boy. (United States)

    Palkar, Amit H; Nair, Akshay Gopinathan; Desai, Roshani J; Potdar, Nayana A; Shinde, Chhaya A


    Vincristine is used in the treatment of leukemias, solid tumors, and lymphomas. A case of a 2-year-old boy undergoing treatment for leukemia who developed sudden onset bilateral ptosis and ophthalmoplegia along with generalized neuropathy due to vincristine's neurotoxic effects is presented. He was successfully treated with pyridoxine and pyridostigmine. The possible mechanisms of action and the treatment for vincristine-induced neuropathy are discussed. Prompt treatment and close follow-up is needed, especially in children because prolonged ptosis and motility restriction may have a profound effect on a child's visual function.

  6. Acute visual loss with ophthalmoplegia after spinal surgery: report of a case and review of the literature. (United States)

    Mukherjee, Bipasha; Alam, Mohammad Shahid


    We report a case of a 15-year-old boy who presented with profound visual loss and complete ophthalmoplegia after an uneventful spinal surgery for removal of cervical osteoblastoma. Postoperative visual loss following nonocular surgery is, fortunately rare, yet a devastating complication. The most common cause is ischemic optic neuropathy, but it can also be due to central retinal occlusion or cortical blindness. Visual loss in conjunction with ophthalmoplegia is rarely seen, and there are very few reports in the literature. We also review the related literature and highlight the mechanism and preventive measures.

  7. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. (United States)

    Lamantea, Eleonora; Tiranti, Valeria; Bordoni, Andreina; Toscano, Antonio; Bono, Francesco; Servidei, Serena; Papadimitriou, Alex; Spelbrink, Hans; Silvestri, Laura; Casari, Giorgio; Comi, Giacomo P; Zeviani, Massimo


    One form of familial progressive external ophthalmoplegia with multiple mitochondrial DNA deletions recently has been associated with mutations in POLG1, the gene encoding pol gammaA, the catalytic subunit of mitochondrial DNA polymerase. We screened the POLG1 gene in several PEO families and identified five different heterozygous missense mutations of POLG1 in 10 autosomal dominant families. Recessive mutations were found in three families. Our data show that mutations of POLG1 are the most frequent cause of familial progressive external ophthalmoplegia associated with accumulation of multiple mitochondrial DNA deletions, accounting for approximately 45% of our family cohort.

  8. Acute visual loss with ophthalmoplegia after spinal surgery: Report of a case and review of the literature

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    Bipasha Mukherjee


    Full Text Available We report a case of a 15-year-old boy who presented with profound visual loss and complete ophthalmoplegia after an uneventful spinal surgery for removal of cervical osteoblastoma. Postoperative visual loss following nonocular surgery is, fortunately rare, yet a devastating complication. The most common cause is ischemic optic neuropathy, but it can also be due to central retinal occlusion or cortical blindness. Visual loss in conjunction with ophthalmoplegia is rarely seen, and there are very few reports in the literature. We also review the related literature and highlight the mechanism and preventive measures.

  9. Patient with pontine warning syndrome and bilateral posterior internuclear ophthalmoplegia: case report

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    Su Li


    Full Text Available Abstract Background Capsular warning syndrome was first described in 1993, featured with repetitive episodes of motor and/or sensory dysfunction without cortical signs. Recently, it has been demonstrated that clinically typical capsular warning syndrome can be associated with pontine infarct and the term “pontine warning syndrome� was coined. Case Presentation A 54-year-old woman with a history of hypertension was seen with profound left-sided hemiplegia. She had had 3 episodes of left-sided weakness before complete hemiplegia. Her speech was slurred. Left central facial palsy and hemiglossoplegia were presented. Her left plantar response was extensor and bilateral posterior internuclear ophthalmoplegia was seen on neurologic examination. Biochemical tests revealed hyperglycemia and dyslipidemia on the next day. MRI demonstrated an acute right paramedian pontine infarct. The patient was commenced on oral clopidogrel, atorvastatin and acarbose. After 23 days of hospitalization, she was discharged with severe left hemiplegia. Conclusions 1 Pontine warning syndrome may be underestimated and understudied. 2 Posterior internuclear ophthalmoplegia is a rare clinical sign in cerebrovascular diseases, while it can help to locate a brainstem lesion rather than an internal capsular one. 3 Blood pressure lowing administration may be improper for patients with pontine warning syndrome.

  10. Effectiveness of Pyridoxine and Pyridostigmine in the Treatment of Vincristine-Induced Bilateral Ptosis and External Ophthalmoplegia: A Case Report

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    Osman Okan Olcaysu


    Full Text Available In this manuscript, we present the case of a patient with acute lymphoblastic leukemia who developed vincristine-induced bilateral ptosis and external ophthalmoplegia and who was treated successfully with pyridoxine and pyridostigmine. Pyridostigmine and pyridoxine are promising treatment option in cases of vincristine-induced neuropathy. (Turk J Ophthalmol 2014; 44: 330-1

  11. Effectiveness of Pyridoxine and Pyridostigmine in the Treatment of Vincristine-Induced Bilateral Ptosis and External Ophthalmoplegia: A Case Report



    In this manuscript, we present the case of a patient with acute lymphoblastic leukemia who developed vincristine-induced bilateral ptosis and external ophthalmoplegia and who was treated successfully with pyridoxine and pyridostigmine. Pyridostigmine and pyridoxine are promising treatment option in cases of vincristine-induced neuropathy. (Turk J Ophthalmol 2014; 44: 330-1)

  12. Wall-eyed bilateral internuclear ophthalmoplegia (webino syndrome and myelopathy in pyoderma gangrenosum

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    Marco Aurélio Lana


    Full Text Available A 35-year-old female with pyoderma gangrenosum developed paraparesis with a sensory level at L1. Three months later she complained of diplopia and was found to have bilateral internuclear ophthalmoplegia with exotropia and no ocular convergence. The term Webino syndrome has been coined to design this set of neuro-opthalmologic findings. Although it was initially attributed to lesions affecting the medial longitudinal fasciculus and the medial rectus subnuclei of the oculomotor complex in the midbrain the exact location of the lesion is still disputed. In the present case both myelopathy and Webino syndrome were probably due to vascular occlusive disease resulting from central nervous system vasculitis occurring in concomitance to pyoderma gangrenosum.

  13. Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. (United States)

    Gáti, István; Danielsson, Olof; Jonasson, Jon; Landtblom, Anne-Marie


    Case histories of two unrelated patients suffering from sensory ataxic neuropathy, dysarthria/dysphagia and external ophthalmoplegia (SANDO) are reported. Both patients showed compound heterozygosity for POLG1 gene mutations, and presented with symptom of the clinical characteristics of SANDO. A patient with a p.A467T and p.W748S, well-known mutations showed a progressive course with early onset and multisystem involvement, including symptoms characteristics for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The second patient showed a less well-known p.T251I and p.G848S mutations with late onset and dysphagia/dysarthria dominated, moderate symptoms. This later is the second published case history, when these POLG1 gene mutations are the possible background of late onset SANDO, dominantly presenting with bulbar symptoms.

  14. Ataxia, ophthalmoplegia, and impairment of consciousness in a 19-month-old American boy. (United States)

    Gliebus, Gediminas; Faerber, Eric N; Valencia, Ignacio; Khurana, Divya S; Singh, Sabina B; Legido, Agustín


    A 19-month-old, white, Pennsylvanian boy, with an unremarkable medical history, presented to our hospital with a 3-week history of nonbloody, nonbilious emesis up to 5 times a day and nonbloody diarrhea. Ten days before admission, his gait became progressively unsteady, until he finally refused to walk. A day before admission, he found it difficult to move his eyes. The patient was hypoactive. History, physical and neurologic examination, blood and cerebrospinal (CSF) fluid studies, and neuroimaging studies ruled out the most frequent causes of acute ataxia. The etiology of bilateral, complete ophthalmoplegia was also taken into consideration. Magnetic resonance imaging (MRI) findings of bilateral thalami and mammillary bodies provided diagnostic clues. Additional history and specific tests established the final diagnosis and treatment plan. The patient improved to a normal neurologic state. This case provides important practical information about an unusual malnutrition cause of acute ataxia, particularly in young children of developing countries.

  15. Tolosa-Hunt syndrome: MR imaging features in 15 patients with 20 episodes of painful ophthalmoplegia

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    Schuknecht, B. [MRI Medical Radiological Institute Zurich (Switzerland)], E-mail:; Sturm, V. [Department of Ophthalmology, University Hospital Zurich (Switzerland); Huisman, T.A.G.M. [MRI Medical Radiological Institute Zurich (Switzerland); Department of Radiology and Radiological Sciences, Johns Hopkins Hospital, Baltimore (United States); Landau, K. [Department of Ophthalmology, University Hospital Zurich (Switzerland)


    Purpose: (a) To assess MR features in patients with Tolosa-Hunt syndrome (THS) and to (b) correlate MR findings with criteria derived from previously reported pathologic observations. Methods: Fifteen patients with twenty episodes of painful ophthalmoplegia prospectively selected according to International Headache Society (IHS) standards underwent MR examinations focused on the cavernous sinus. Initial examinations in 20 and follow-up MR images in 17 episodes were retrospectively reviewed by 3 independent observers. Results: The primary criteria: an enhancing soft tissue lesion within the cavernous sinus, increase in size and lateral bulging of the anterior cavernous sinus contour were consistently present in 15 initial episodes and in 5 recurrences (20/20). Agreement among observers was 100%. The secondary criteria: internal carotid artery narrowing in 7 patients, extension towards the superior orbital fissure in 13 and orbital apex involvement in 8 patients were unanimously agreed upon in 87.5%, 86.6% and 80%. Complete resolution of findings was observed on follow-up studies. Conclusion: In patients with THS the MR features conform to previously reported pathologic findings. MR features are evocative of THS when an increase in size and bulging of the dural contour of the anterior CS supplemented by carotid artery involvement and extension towards the orbit are present. Resolution of findings within 6 months is required to support the diagnosis.

  16. Chronic progressive external ophthalmoplegia: II. A qualitative and quantitative electronmicroscopy study of skeletal muscles

    Directory of Open Access Journals (Sweden)

    Elza Dias-Tosta


    Full Text Available This study quantifies the maior electron microscopic changes in limb muscle biopsies from 31 out of 34 patients with the syndrome of chronic progressive external ophthalmoplegia. Patients were divided into three clinical groups - A 10 sporadic cases with muscle weakness only; B 9 familial cases with muscle weakness only; C 15 cases with muscle weakness and one or more of the following features: pigmentary retinopathy, cerebellar ataxia, pyramidal signs and peripheral neuropathy. Electron microscopic mitochondrial abnormalities were found in all groups (8 patients from group A, 3 from group B, 14 from group C. Quantitative measurements of certain muscle fibre constituents, using a point-counting technique, revealed decreased myofibril volume-fractions and increased volume-fractions of mitochondria, glycogen and lipid in some biopsies from each group. Mitochondrial volume-fractions correlated positively with lipid content, the proportion of type 1 fibres, and the percentage of fibres with increased oxidative enzyme activity. The three groups defined clinically showed no significant differences in terms of the relative proportions of these measured constituents.

  17. Screening of PEO1 and mitochondrial genes in sporadic cases of ophthalmoplegia

    Directory of Open Access Journals (Sweden)

    Ashok Singh


    Full Text Available Aim: To screen the gene PEO1 and mitochondrial genes in sporadic cases of rare progressive external ophthalmoplegia (PEO patients from North India. Materials and Methods: The nuclear and mitochondrial DNA was isolated from the sporadic PEO patients, and bi-directional sequencing was done in gene PEO1 and mitochondrial genes to capture the mutations relevant to the PEO disease. Results: In the present study, none of the mutations were reported in the coding region of PEO1 gene, while four mutations were observed in mtDNA genes, namely NADH dehydrogenase subunit 2 (ND2, tRNA-Trp, non-coding nucleotides (MT-NC3, and NADH dehydrogenase subunit 5 (MT-ND5. Our study revealed two novel mutations, one in tRNA-Trp and the other in ND2 gene, which may have role in sporadic cases of PEO patients. The absence of novel conserved mutation in tRNA-Trp gene was also confirmed in 110 ethnically matched controls. Conclusion: The sporadic case of PEO disease is not associated with mutations in nuclear gene PEO1. The novel mutation in tRNA-Trp gene and ND2 mutations may have role in the disease.

  18. Bilateral Internuclear Ophthalmoplegia in a Patient with Devic’s Neuromyelitis Optica

    Directory of Open Access Journals (Sweden)

    E. Garcia-Martin


    Full Text Available An unusual presentation of Devic’s neuromyelitis optica (NMO disease associated with bilateral internuclear ophthalmoplegia (INO is described. A 32-year-old pregnant patient was diagnosed with NMO. First symptoms were headache and sudden visual loss in her right eye (RE. Eighteen months ago, she reported other neurologic symptoms such as paresthesia. Based on her visual field, fundoscopy and Ishihara test, she was diagnosed with retrobulbar neuritis of the RE. After delivery, new neurologic symptoms resembling transverse myelitis appeared. She was treated with methylprednisolone and plasmapheresis, which improved her visual acuity; however, a sudden bilateral INO appeared, with adduction defect and nystagmus with abduction in both eyes. No improvement was obtained after treatment with azathioprine and rituximab. Paresis of the legs and the right arm persisted, but double vision and OIN gradually disappeared. At the end, the patient had a residual exophoria in the RE and nystagmus with abduction in the left eye. Prevalence of NMO is lower than one case per one million inhabitants, and it is not likely to affect the encephalic trunk; furthermore, bilateral INO in NMO is rare. Two major criteria and at least two of the three minor ones are required to confirm a NMO diagnosis, and our patient fulfilled these diagnosis criteria.

  19. Muscle fiber hypotrophy with intact neuromuscular junctions. A study of a patient with congenital neuromuscular disease and ophthalmoplegia. (United States)

    Bender, A N; Bender, M B


    An infant born with severe but nonprogressive somatic and cranial muscle weakness including bilateral external ophthalmoplegia was studied with a motor-point muscle biopsy. There was a strinking generalized decrease in the size of muscle fibers (hypotrophy), most marked in the type I fibers. Many of the small fibers were immature, resembling myotubes. Neuromuscular junctions on severely hypotrophic fibers were normal with esterase staining and by ultrastructural criteria. Although these are unusual clinical and biopsy characteristics, this infant's condition bears a resemblance to two other congenital nonprogressive neuromuscular diseases:myotubular myopathy and congenital fiber type disproportion. In these conditions and in our patient, there is no primary degenerative process affecting nerve or muscle but, rather, an apparent lack of maturation of fetal muscle fibers, indicating a defective normal trophic interaction between nerve and muscle.

  20. Progressive External Ophthalmoplegia and Vision and Hearing Loss in a Patient With Mutations in POLG2 and OPA1 (United States)

    Ferraris, Silvio; Clark, Susanna; Garelli, Emanuela; Davidzon, Guido; Moore, Steven A.; Kardon, Randy H.; Bienstock, Rachelle J.; Longley, Matthew J.; Mancuso, Michelangelo; Ríos, Purificación Gutiérrez; Hirano, Michio; Copeland, William C.; DiMauro, Salvatore


    Objective To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase γ (POLG2) and a mutation in the OPA1 gene. Design Clinical examination and morphological, biochemical, and molecular analyses. Setting Tertiary care university hospitals and molecular genetics and scientific computing laboratory. Patient A 42-year-old man experienced hearing loss, progressive external ophthalmoplegia (PEO), loss of central vision, macrocytic anemia, and hypogonadism. His family history was negative for neurological disease, and his serum lactate level was normal. Results A muscle biopsy specimen showed scattered intensely succinate dehydrogenase–positive and cytochrome-c oxidase–negative fibers. Southern blot of muscle mitochondrial DNA showed multiple deletions. The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase γ gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A). Because biochemical analysis of the mutant protein showed no alteration in chromatographic properties and normal ability to protect the catalytic subunit from N-ethylmaleimide, we also sequenced the OPA1 gene and identified a novel heterozygous mutation (Y582C). Conclusion Although we initially focused on the mutation in POLG2, the mutation in OPA1 is more likely to explain the late-onset PEO and multisystem disorder in this patient. PMID:18195150

  1. Selected case from the Arkadi M. Rywlin International Pathology Slide Series: Mitochondrial myopathy presenting with chronic progressive external ophthalmoplegia (CPEO): a case report. (United States)

    Bisceglia, Michele; Crociani, Paola; Fogli, Danilo; Centola, Antonio; Galliani, Carlos A; Pasquinelli, Gianandrea


    A 43-year-old female patient diagnosed with chronic progressive external ophthalmoplegia (CPEO) because of mitochondrial myopathy documented by muscle biopsy is presented. The chief complaints were represented by blepharoptosis and ophthalmoplegia. The muscle biopsy was evaluated by histology, using the appropriate histochemical and histoenzimological stains. Ragged red fibers with Gomori trichrome stain were seen, which showed cytochrome c oxydase deficiency and abnormal succinate dehydrogenase staining in around 20% of muscle fibres. Electron microscopy was also performed which demonstrated abnormal, hyperplastic, pleomorphic, and hypertrophic mitochondria, characterized by paracrystalline inclusions arranged in parallel rows ("parking-lot" inclusions), consisting of rectangular arrays of mitochondrial membranes in a linear or grid-like pattern. In conclusion, mitochondrial myopathy was definitely diagnosed. Although molecular analysis, which was subsequently carried out, failed to reveal mutations in the mitochondrial DNA or in selected nuclear genes, the pathologic diagnosis was not changed. The differential diagnosis of CPEO with other forms of ocular myopathies as well as the possible association of CPEO with systemic syndromes is discussed. Ophtalmologists and medical internists should always suspect CPEO when dealing with patients affected by ocular myopathy, either in its pure form or in association with other myopathic or systemic signs.

  2. 眼外肌麻痹患者257例的临床特征及病因分析%Analysis the clinical characteristic and etiology of external ophthalmoplegia 257 cases

    Institute of Scientific and Technical Information of China (English)

    雷涛; 李正仪; 刘轩; 王润生; 洪舟


    Objective To discussion the clinical characteristics and etiology of external ophthalmoplegia. Methods Collected and retrospectively analyzed the etiology and clinical characteristic of 257 external ophthalmoplegia patients. Records of the patient history, clinical manifestations and corresponding neurological department of internal medicine, Ophthalmology, Endocrinology and Radiographic examination. Results Simple ptosis in 80 cases, 131 cases of simple binocular diplopia, ptosis and diplopia in 39 cases, 7 cases of eyeball fixation. 223 cases of unilateral paralysis of extraocular muscle, 32 cases of bilateral extraocular muscle paralysis. The levator paralysis in 119 cases, unilateral put on 98 cases of eyelid muscle paralysis, bilateral put on 21 cases of eyelid muscle paralysis. 84 cases of lateral rectus muscle palsy, 56 cases of unilateral lateral rectus muscle palsy, 6 cases of bilateral lateral rectus paralysis.178 cases of extraocular ophthalmoplegia of oculomotor control, 40 cases with complete paralysis, 117 cases with incomplete paralysis, combined with other extraocular ophthalmoplegia in 21 cases. Superior oblique palsy in 24 cases, alone of superior oblique palsy in 17 cases, combined with other extraocular ophthalmoplegia in 7 cases. 82 cases with orbital local pain, 12 cases with mydriasis. In 163 cases of ocular motor neuropathy patients, single oculomotor nerve palsy in 148 cases, accounting for 90.8%, 15 cases of multiple oculomotor nerve paralysis, 9.2%. Eye movement nerve injury in 110 cases, accounting for 67.5%, 16 cases, nuclear damage was 9.8%, between nuclear damage in 13 cases, accounting for 8%, nuclear damage 24 cases accounted for 14.7%.There are 14 kinds of external ophthalmoplegia etiology in this group. including myasthenia gravis, diabetic oculomotor nerve injury, atherosclerosis and ischemic ocular motor nerve injury, local nonspecific inflammatory, traumatic, local space-occupying lesions, thyroid disease, Increased

  3. Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome%慢性进行性眼外肌瘫痪和Kearns-Sayre综合征的线粒体DNA突变分析

    Institute of Scientific and Technical Information of China (English)

    王朝霞; 袁云; 高枫; 戚豫; 沈定国; 陈清棠


    目的探讨慢性进行性眼外肌瘫痪(chronic progressive external ophthalmoplegia, CPEO)和Kearns-Sayre综合征(Kearns-Sayre syndrome, KSS)的线粒体DNA(mitochondrial DNA, mtDNA)突变特点.方法用Southern印迹方法检测7例CPEO和4例KSS患者的肌肉组织mtDNA,并进一步用聚合酶链反应产物直接测序来明确缺失的具体范围;用聚合酶链反应-限制性内切酶分析法检测有无mtDNA A3243G点突变.结果发现5例患者(2例CPEO和3例KSS)存在mtDNA的大片段缺失;1例KSS患者存在A3243G点突变.5例大片段缺失的大小及缺失范围各不相同,从3.0~8.0 kb不等,缺失型mtDNA占总mtDNA的比例为37.6%~87.0%.聚合酶链反应产物测序表明这5例缺失类型均未见文献报道.结论与CPEO和KSS患者相关的最常见的mtDNA突变为大片段缺失,A3243G点突变也可在少数患者中检测到.

  4. Clinical study of combined treatment with Methycobal and Sodium Tanshinone HA Sulfonate in ophthalmoplegia due to trauma%弥可保联合丹参酮ⅡA磺酸钠治疗由外伤等原因所致眼外肌麻痹的临床观察

    Institute of Scientific and Technical Information of China (English)

    荣华; 崔红平; 周晓东


    目的 探讨应用弥可保联合丹参酮ⅡA磺酸钠治疗由外伤等原因所致眼外肌麻痹的临床疗效.方法 观察57例(57眼)眼外肌麻痹(排除炎症,肿瘤,重症肌无力,Graves眼眶病,伴有肌肉及组织嵌顿的眶壁骨折),应用弥可保联合丹参酮ⅡA磺酸钠治疗,对比分析以往采用弥可保治疗53例(53眼)眼外肌麻痹者.结果 弥可保联合丹参酮ⅡA磺酸钠治疗组有效49例(49眼),总有效率85.96% (49/57).对由颅脑外伤或眼眶外伤引起眼外肌麻痹总有效率86.96% (20/23);对由糖尿病、高血压、高血脂、腔隙性脑梗塞等血管性疾病引起眼外肌麻痹总有效率达93.33%(28/30).弥可保对照组有效28例(28眼),总有效率52.83%(28/53).两组疗效差异有统计学意义(P<0.05).结论弥可保联合丹参酮ⅡA磺酸钠治疗眼外肌麻痹能明显提高治愈率.%Objective To investigate the effect of the combined treatment with Methycobal and Sodium Tanshinone ⅡA Sulfonate in ophthalmoplegia due to trauma.Methods 57 cases (57 eyes)of acquired ophthalmoplegia( exclusion inflammation,tumor,myasthenia gravis,Graves ophthalmopathy and orbital blowout fractures with muscle and tissue incarceration)were treated with Methycobal and Sodium Tanshinone ⅡA Sulfonate,compared with 53 patients ( 53 eyes) treated with Methycobal former years.Results In Methycobal and Sodium Tanshinone ⅡA Sulfonate group,efficacy 49 cases,total effective rate was 85.96%,the total effective rate of treatment of ophthalmoplegia caused by craniocerebral trauma or orbital trauma,and ophthalmoplegia related with diabetes,hypertension,hyperlipemia and lacunar infarction were 86.96 % and 93.33 % respectively.In Control group,efficacy 28 cases,total effective rate was 52.83%.The results differed significantly between the two groups.Conclusion Treatment with Methycobal and Sodium Tanshinone ⅡA Sulfonate can increase the cure rate of ophthalmoplegia.

  5. Esthesioneuroblastoma presenting with complete external ophthalmoplegia. (United States)

    García-Santana, Sheila M; Rodríguez, Julio A; Serrano, Luis; Hedges, Thomas R


    An 85-year-old male presented with unilateral third, fourth, and sixth cranial nerve palsies. Neuroimaging revealed a mass involving the medial wall of the left cavernous sinus, without orbital involvement. Biopsy of the mass provided a pathologic diagnosis of esthesioneuroblastoma.

  6. Genetics Home Reference: progressive external ophthalmoplegia (United States)

    ... most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount ... large segments of mtDNA in muscle cells. The size of the deleted region can range from 2, ...

  7. Ophthalmoplegia, Dysphonia and Tetraparesis Due to Guillain ...

    African Journals Online (AJOL)

    Guillain-Barre's syndrome (GBS) or inflammatory/post-infectious acute ... It usually begins in the legs and sometimes goes up to the respiratory muscles and cranial ... The gestation is a relative immunological rest period in which autoimmune ...

  8. Observation of curative effect of compound anisodine combined with dexamethasone by iontophoresis in the treatment of patients with ophthalmoplegia%复方樟柳碱联合地塞米松离子导入治疗眼外肌麻痹的疗效观察

    Institute of Scientific and Technical Information of China (English)



    Objective:To explore the curative effect of compound anisodine combined with dexamethasone by iontophoresis in the treatment of patients with ophthalmoplegia.Methods:72 patients with ophthalmoplegia were selected,and they were divided into the control group and the observation group randomly.The patients in the control group were given promoting blood circulation therapy,and those in the observation group were given the treatment that injected compound anisodine beside superficial temporal artery combined with dexamethasone by iontophoresis.The curative effect of the two groups were compared then.Results:The effective rate of the observation group was 94.4% significantly higher than the control group of 77.7%(P<0.05).Conclusion:There would be well curative effect of compound anisodine combined with dexamethasone by iontophoresis in the treatment of patients with ophthalmoplegia,and also there were no side effects and complications.%目的:探讨复方樟柳碱联合地塞米松离子导入治疗眼外肌麻痹的疗效。方法:收治眼外肌麻痹患者72例(眼),将其随机分为对照组和观察组。对照组进行活血化瘀治疗,观察组进行复方樟柳碱行颞浅动脉旁注射联合地塞米松离子导入治疗。对两组患者的治疗效果进行比较。结果:观察组有效率94.4%明显高于对照组的77.7%(P<0.05)。结论:在眼外肌麻痹的治疗中应用复方樟柳碱联合地塞米松离子导入治疗能够取得良好的治疗效果,且无不良反应和并发症。

  9. 眼科首诊糖尿病性眼肌麻痹18例临床分析%Newly diagnosdd diabetes in ophthalmology ophthalmoplegia analysis of 18 cases.

    Institute of Scientific and Technical Information of China (English)



    Objective To explore the diplopia as a first diagnosis of diabetes diagnosis, differential diagnosis and pathogenesis.Methods 18 patients underwent routine ophthalmic examinations,including visual acuity,slit lamp microscopy,fundus examination, refraction, as hyperopia close eye position, eye movement, red lens on complex video analysis, eye-B ultrasonic examination, systemic examination,including blood routine, blood glucose, blood lipids, blood biochemistry, thyroid function test, routine head CT.Resuits 18 patients were excluded by clinical examination related to intracranial lesions,cerebrovascular disease, Graves disease, myasthenia gravis, and nasopharyngeal cancer,diagnosed with diabetes.All the monocular disease, which oculomotor nerve palsy in 14 cases,accounting for 77.7% ,no pupil change,abducens nerve palsy in 3 cases,16.7% ,trochlear nerve palsy in 1 case,5.6%.Conclusion With the aging of the population, dietary changes, increasing incidence of diabetes, diabetic ophthalmoplegia caused by an ophthalmologist should focus in order to avoid misdiagnosis and missed diagnosis.%目的 探讨以复视为首诊的糖尿病患者的诊断、鉴别诊断及发病机制.方法 对18例患者行眼科常规检查,包括视力、裂隙灯显微镜检查、眼底检查、屈光检查、视远视近眼位、眼球运动、红镜片法复视像分析、眼B超检查,全身检查包括血常规、血糖、血脂、血生化、甲状腺功能测定,常规行头颅CT.结果 18例患者经临床相关检查排除颅内占位性病变、脑血管病变、Graves病、重症肌无力、鼻咽癌等,确诊为糖尿病.全部为单眼发病,其中动眼神经麻痹者14例(77.7%),均无瞳孔改变,外展神经麻痹者3例(16.7%),滑车神经麻痹者1例(5.6%).结论 随着人口的老龄化,饮食结构改变,糖尿病的发病率越来越高,糖尿病性眼肌麻痹应该引起眼科医生的重视,以免误诊和漏诊.

  10. 慢性进行性眼外肌麻痹及Kearns-Sayre综合征患者线粒体DNA突变的研究%Mutation of mitochondrial DNA in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome

    Institute of Scientific and Technical Information of China (English)

    田旭; 孙明; 张爽


    目的:检测慢性进行性眼外肌麻痹(chronic progressive external ophthalmoplegia, CPEO)及Kearns-Sayre综合征(KSS)患者骨骼肌细胞线粒体DNA的缺失情况.方法:从11例CPEO和KSS患者的骨骼肌活检标本中,提取总体DNA.限制性内切酶PvuⅡ消化1 h,将消化后的DNA片段进行琼脂糖凝胶电泳,使DNA片段按大小分离.用毛细转移法将凝胶上的DNA转移至正电荷尼龙膜上.从正常人全血中提取全长线粒体DNA作为探针,进行地高辛-dUTP标记,并与正电荷尼龙膜进行预杂交、杂交、杂交后冲洗及显色反应.结果:11例中,7例除有一条正常大小杂交带外,还有一条异常的缺失型线粒体DNA杂交带.剂量分析表明,缺失型线粒体DNA占总线粒体DNA的50%~75%.缺失片断在4.5~5.5 kb之间.结论:CPEO及KSS患者骨骼肌线粒体DNA缺失率较高,线粒体DNA基因缺失与线粒体疾病密切相关.

  11. A rare case of complete bilateral ophthalmoplegia and ptosis. (United States)

    Hall, Daniel John; Bazaraa, Talal


    We describe the case of an 85-year-old gentleman admitted with bilateral ptosis and complete bilateral ocular paralysis. Initial differential diagnoses included myasthenia gravis, diabetic cranial neuropathy, an ischaemic event and possible occult neoplasm. Investigations did not support any of the differentials and Miller Fisher syndrome (MFS) was considered. Anti-GQ1b IgG antibody was positive, supporting the possibility of anti-ganglioside syndrome. This gentleman was treated with intravenous immunoglobulin (IVIG) and made a full recovery.

  12. 慢性进行性眼外肌麻痹和 Kearns-Sayre 综合征患者视网膜神经纤维层厚度测量及影响因素分析%Measurement and analysis of retinal nerve fiber layer thickness in chronic progressive external ophthalmoplegia and kearns-sayre syndrome

    Institute of Scientific and Technical Information of China (English)

    吴元; 吴海龙; 王朝霞; 潘英姿; 晏晓明


    Objective To determine the retinal nerve fiber layer thickness (RNFLT)of chronic progressive external ophthalmoplegia (CPEO)and kearns-sayre syndrome (KSS)patients using spectral-domain optical coherence tomography (SD-OCT)and to analyze the potential influence factors for RNFLT of these patients.Methods 18 CPEO and 4 KSS (CPEO with retinitis pigmentosa and cardiac block)patients, all were muscle biopsy confirmed,were included in this study.There were 7 males and 1 5 females,the average age was (29.09 ± 13.40)years,the average onset age was (1 6.4 ± 10.7 )years and the average disease duration was (1 1.30 ± 7.30)years.All the patients underwent SD-OCT examination for the left eye,the peripapillary RNFL thickness was measured using the Spectralis 3.45 mm circle scan protocol.8 quadrants were scanned including superior temporal (ST),temporal upper (TU),temporal lower (TL), inferior temporal (IT),inferior nasal (IN),nasal lower (NL),nasal upper (NU)and superior nasal (SN). The relationship between RNFLT and onset time,disease duration was analyzed by Pearson correlation analysis.Results The average RNFLT of ST,TU,TL,IT,IN,NL,NU,SN in the 22 patients were (136.3±24.1),(85.4±25.7),(68.2±1 1.7),(128.2±28.7),(127.3±29.5),(66.7±1 6.8),(70.1± 1 7.6)μm,respectively.The circumferential average RNFLT was (101.5 ± 14.4 )μm.There was no significant difference between the KSS group and CPEO group (P > 0.05 ). The decrease of the circumferential RNFLT had no relationship with the onset age (r = - 0.306,P = 0.1 1 ),but a negative relationship with the disease course (r=-0.5 18,P =0.03).There were negative relationships between the disease course and RNFLT of 4 nasal quadrants (IN:r=-0.555,P =0.01,NL:r=-0.630,P =0.00 NU:r =-0.559,P =0.01,SN:r =-0.557,P =0.01).Conclusion There is no difference in RNFLT of patients with CPEO and KSS.There is a negative relation between RNFLT (especially RNFLT of 4 nasal quadrants)and disease course.%目的:观察慢性

  13. Painful ophthalmoplegia from metastatic nonproducing parathyroid carcinoma : Case study and review of the literature

    NARCIS (Netherlands)

    Eurelings, M; Frijns, CJM; Jeurissen, FJF


    Parathyroid carcinoma is an uncommon malignancy. Of the fewer than 400 cases reported, most have been cases of producing parathyroid carcinoma with accompanying hypercalcemia. Only 13 patients with nonproducing parathyroid carcinoma have been described. Nine of these 13 patients had metastatic disea

  14. [Chronic progressive external ophthalmoplegia with mitochondrial anomalies. Clinical, histological, biochemical and genetic analysis (9 cases)]. (United States)

    Drouet, A


    We report the clinical signs and histological findings in nine patients with mitochondrial ocular myopathies. There were four males and five females. Of age ranging from 47 to 82 years. A more often asymetrical ptosis was in all cases of chronic progressive external ophtalmoplegia (CPEO), but muscle weakness in limbs was not usual. The prognosis in this group was good, but ubidecarenone (150 mg/d) used for two cases, did not improve ophtalmoplegia. The serum creatine kinase was normal in eight of nine cases and electromyography showed myopathic changes in three cases. Histoenzymatic analysis of the muscle biopsy and biochemical studies of mitochondria isolated from the muscle sample demonstrated mitochondrial myopathy associated with partial deficiency of complexes I and/or IV of the electron transfer chain. One of seven patients studied had single deletion by Southern blot analysis, in a heteroplasmic state and another an A-->G transition at position 3243 within the mitochondrial tRNA leu (UUR) gene. Chronic progressive external ophtalmoplegia, without large deletion, may have abnormality in other coding regions of mt DNA such as tRNA, rRNA or protein genes.

  15. A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

    Directory of Open Access Journals (Sweden)

    Massimiliano Filosto


    Mitochondrial involvement is an emerging key determinant in the pathogenesis of Huntington disease and it is well known that mutant huntingtin influences the mitochondrial respiratory complexes II and III. A synergist effect of the HTT and MTTA mutations on respiratory chain function may be hypothesized in our patient and should be regarded as a spur for further studies on the mtDNA/HTT reciprocal interactions.

  16. A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus. (United States)

    Tiranti, V; Carrara, F; Confalonieri, P; Mora, M; Maffei, R M; Lamantea, E; Zeviani, M


    We describe a patient who suffered from impaired ocular motility from age 10 years and at 16 years developed ptosis, proximal weakness and progressive fatigability. At 35 years she developed massive myoclonic jerks, and head and distal tremor. A muscle biopsy showed a high percentage of cytochrome c oxidase negative fibers but no ragged-red fibers. A novel heteroplasmic mutation (8342G-->A) was found in the mitochondrial transfer RNA(Lys) gene by single-strand conformation polymorphism screening, followed by sequence and restriction fragment length polymorphism analysis. Approximately 80% of muscle mitochondrial DNA (mtDNA) harbored the mutation, while the mutation was absent in lymphocyte DNA of the proband, as well as of her mother, daughter and a maternal aunt. However, the pathogenicity of the mutation was confirmed by restriction fragment length polymorphism analysis of single muscle fibers, which revealed a significantly greater level of mutant mtDNA in cytochrome c oxidase negative over cytochrome c oxidase positive fibers.

  17. Paraneoplastic ophthalmoplegia and subacute motor axonal neuropathy associated with anti-GQ1b antibodies in a patient with malignant melanoma

    NARCIS (Netherlands)

    L. Kloos; C.W. Ang (Wim); W.H.J. Kruit (Wim); G. Stoter (Gerrit); P.A.E. Sillevis Smitt (Peter)


    textabstractA 68 year old woman developed oculomotor paresis shortly after metastatic progression of her melanoma was discovered. She was then immunised with the tumour antigen MAGE-3 in combination with an immunological adjuvant. During immunisation her symptoms worsened and she d

  18. 慢性进行性眼外肌瘫痪型线粒体肌病(附3个家系报告)%Chronic progressive external ophthalmoplegia type of mitochondrial myopathy(report of 3 families)

    Institute of Scientific and Technical Information of China (English)

    王勤周; 焉传祝; 吴金玲; 刘淑萍; 张永庆; 高素琴; 刘新云; 李大年


    目的探讨家族性慢性进行性眼外肌瘫痪(CPEO)型线粒体肌病的临床、遗传和病理特点.方法回顾性分析CPEO 型线粒体肌病3个家系21例患者的临床表现、家系调查及5例肌活检病理学资料.结果患者临床均表现为眼睑下垂和眼球运动障碍,伴或不伴有肌无力.1家系符合常染色体显性遗传规律,另2个家系符合母系遗传规律.病理改变:光镜下为破碎红纤维(RRFs)和细胞色素C氧化酶(COX)缺失纤维;电镜为肌膜下、肌原纤维间线粒体数量增多,嵴内可见电子致密颗粒或晶格样包涵体.结论 3个家系及其亲子代间临床与病理表现相似,提示不同遗传方式所致CPEO型线粒体肌病临床表现是相同的.

  19. Clinical Manifestations, Pathological Changes and Diagnosis of Chronic Progressive External Ophthalmoplegia(Six Cases Attached)%慢性进行性眼外肌麻痹的临床、病理及诊断(附6例报道)

    Institute of Scientific and Technical Information of China (English)

    卢家红; 林洁; 黄俊; 赵重波; 汪寅


    目的:探讨慢性进行性眼外肌麻痹(CPEO)的临床、病理及诊断.方法:对6例CPEO患者的临床表现、病理特点进行分析并与另5组CPEO比较.结果:6例患者中男3例,女3例,平均起病年龄13岁.2例为同胞兄弟.6例均有进行性加重的双睑下垂和眼球活动障碍,其中1例起病不对称.除眼外肌麻痹外,3例闭目肌力减退、1例轻度吞咽困难、1例轻度肢体无力.3例伴内分泌功能异常.肌活检破碎红纤维(RRF)阳性肌纤维数和细胞色素氧化酶(cytochrome oxidase,COX)阴性肌纤维数均明显>2%.结论:CPEO的主要临床表现为进行性发展的眼外肌麻痹,可伴肢体肌无力、视网膜色素变性、听力障碍、心脏传导异常、内分泌异常等.诊断主要依赖临床和肌肉活检中发现>2%的RRF+肌纤维、COX-肌纤维.

  20. Recurrent Miller Fisher syndrome. (United States)

    Madhavan, S; Geetha; Bhargavan, P V


    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  1. Mitochondrial Disease: Possible Symptoms (United States)

    ... tubular acidosis or wasting HEART Cardiac conduction defects (heart blocks) Cardiomyopathy LIVER Hypoglycemia (low blood sugar) Liver failure EARS & EYES Visual loss and blindness Optic atrophy Acquired strabismus Ptosis Ophthalmoplegia Retinitis pigmentosa Hearing loss ...

  2. Hypoxic brain injury and cortical blindness in a victim of a ...

    African Journals Online (AJOL)

    difficulty and had a reported respiratory arrest upon arrival in Richards Bay. ... ophthalmoplegia to respiratory arrest, which can present as acute medical ... [3] Cerebellar involve ment and ataxia as well as the 'locked-in syndrome' are.

  3. Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

    Directory of Open Access Journals (Sweden)

    Ting Chen


    Conclusions: We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

  4. Isolated oculomotor nerve palsy caused by cavernous sinus dural arteriovenous fistula: Case report

    Energy Technology Data Exchange (ETDEWEB)

    Ihn, Yon Kwon; Jung, Won Sang [The Catholic Univ. of Korea, Suwon (Korea, Republic of); Kim, Bum Soo [The Catholic Univ. of Korea, Seoul (Korea, Republic of)


    Cavernous dural arteriovenous fistula (DAVF), which usually presents with conjunctival injection, proptosis, loss of visual acuity, and ophthalmoplegia, is a rare cause of ophthalmoplegia. Thus, it may be overlooked when the typical symptoms are lacking. There have been some cavernous DAVF case reports presenting with isolated oculomotor, abducens and trochlear nerve palsy. We report a patient presenting with isolated oculomotor palsy, caused by cavernous DAVF, which was treated by transvenous coil embolization. This case suggests that cavernous DAVF should be considered in the differential diagnosis of isolated oculomotor nerve palsy and for which case - selective angiography and embolization may be helpful in reaching a diagnosis and providing a guide for optimal treatment.

  5. Recurrent Miller fisher syndrome : a case report.

    Directory of Open Access Journals (Sweden)

    Sitajayalakshmi S


    Full Text Available Miller fisher syndrome (MFS is a variant of Guillain-Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with MFS. A case with two episodes of MFS within four years is reported. He presented with findings of ophthalmoplegia, ataxia, areflexia, and oropharyngeal weakness and mild distal sensory impairment during both episodes. Electrophysiological findings showed reduced compound muscle action potentials and sensory nerve action potentials with no evidence of conduction blocks. Nerve biopsy showed segmental demyelination. MRI of brain was normal. He responded well to immunoglobulins during both episodes suggesting that immunomodulating drugs have a role in the treatment of MFS.

  6. Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

    DEFF Research Database (Denmark)

    Witting, N; Mensah, A; Køber, L;


    ophthalmoplegia was found in 9 patients. Dysphagia, tested by cold-water swallowing test, was abnormal in 9 patients (17-116 s, ref wheelchair bound and one used a rollator. Six patients had reduced FEV1 (range 23%-59%). No cardiac involvement...

  7. [Surgical treatment of myopathic ptosis. Apropos of 20 surgically treated cases]. (United States)

    Morax, S; Longueville, E; Hurbli, T


    Twenty cases of severe progressive ophthalmoplegia (Myopathic ptosis) with significant ptosis were treated by various procedures, including levator resection with blepharoplasty or frontalis suspension using temporalis fascia. Surgical indications were generally limited to cases with poor or absent levator function. The results are analysed after an average follow-up of 6 months. The particular problems concerning surgery of myopathic ptosis are discussed.

  8. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.

    NARCIS (Netherlands)

    Antonicka, H.; Ostergaard, E.; Sasarman, F.; Weraarpachai, W.; Wibrand, F.; Pedersen, A.M.; Rodenburg, R.J.T.; Knaap, M.S. van der; Smeitink, J.A.M.; Chrzanowska-Lightowlers, Z.M.; Shoubridge, E.A.


    We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who developed Leigh syndrome, optic atrophy, and ophthalmoplegia. Analysis of the assembly of the oxidative phosphorylation complexes showed severe

  9. Familial visceral myopathy associated with a mitochondrial myopathy.


    Lowsky, R; Davidson, G.; Wolman, S; Jeejeebhoy, K N; Hegele, R. A.


    A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is the molecular lesion in familial visceral myopathy.

  10. Acute pituitary apoplexy complicating a pituitary macroadenoma

    Directory of Open Access Journals (Sweden)

    Febin Joseph


    Full Text Available Pituitary apoplexy is a rare but potentially life-threatening condition caused by either haemorrhage or infarction of the pituitary gland. In most cases, a pre-existing pituitary macroadenoma is present. Patients present with the clinical syndrome of headache, visual defects or ophthalmoplegia, altered state of consciousness and variable endocrine deficits.

  11. High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects

    DEFF Research Database (Denmark)

    Frederiksen, A.L.; Jeppesen, T.D.; Vissing, J.;


    INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy, ataxia, strokes, ophthalmoplegia, epilepsy, and cardiomyopathy in vario...

  12. Familial progressive neuronal disease and chronic idiopathic intestinal pseudo-obstruction. (United States)

    Steiner, I; Steinberg, A; Argov, Z; Faber, J; Fich, A; Gilai, A


    Chronic idiopathic intestinal pseudo-obstruction (CIIP) is characterized by recurrent episodes of bowel obstruction without mechanical cause. In five members of two Jewish-Iranian families, CIIP was associated with progressive neuronal disease, starting before age 30, with ophthalmoplegia, sensorimotor peripheral neuropathy, and hearing loss. There was no evidence of CNS involvement. The pattern suggested autosomal recessive inheritance.

  13. Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

    DEFF Research Database (Denmark)

    Jeppesen, Tina Dysgaard; Schwartz, M.; Colding-Jorgensen, E.;


    The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110C > A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness...

  14. High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects

    DEFF Research Database (Denmark)

    Frederiksen, Anja Lisbeth; Jeppesen, Tina Dysgaard; Vissing, John;


    INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy, ataxia, strokes, ophthalmoplegia, epilepsy, and cardiomyopathy in various...

  15. Systemic lupus erythematosus: A possible cause of non-alcoholic ...

    African Journals Online (AJOL)

    We report a young woman with systemic lupus erythematosus (SLE) and an ... The clinical triad of mild confusion, ataxia and ophthalmoplegia also raised ... The diagnosis of WE was further supported by the magnetic resonance imaging features. ... Gastrointestinal manifestations of SLE are described as being common in ...

  16. Cytomegalovirus sinusitis complicated by orbital apex syndrome in an immunocompromised host. (United States)

    Nomura, Jim H; Eichhorn, Knut; Cao, Thai M; Sahebi, Firoozeh


    Sinusitis in immunocompromised patients can be caused by a wide variety of pathogens, primarily bacterial and fungal in nature. Tissue invasion can extend into the orbital apex and result in ophthalmoplegia and blindness. We report the first histologically proven case, to our knowledge, caused by cytomegalovirus infection. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Postpartum pituitary apoplexy with isolated oculomotor nerve palsy: A rare medical emergency

    Directory of Open Access Journals (Sweden)

    Sujeet Raina


    Full Text Available Pituitary apoplexy is a clinical syndrome characterized by sudden onset headache, visual deficits, ophthalmoplegia, altered mental status, and hormonal dysfunction due to an expanding mass within the sella turcica resulting from hemorrhage or infarction of pituitary gland. We report a case of pituitary apoplexy that developed in postpartum period following postpartum hemorrhage and presented with isolated third cranial nerve palsy.

  18. Localized Cerebral Energy Failure in DNA Polymerase Gamma-Associated Encephalopathy Syndromes (United States)

    Tzoulis, Charalampos; Neckelmann, Gesche; Mork, Sverre J.; Engelsen, Bernt E.; Viscomi, Carlo; Moen, Gunnar; Ersland, Lars; Zeviani, Massimo; Bindoff, Laurence A.


    Mutations in the catalytic subunit of the mitochondrial DNA-polymerase gamma cause a wide spectrum of clinical disease ranging from infantile hepato-encephalopathy to juvenile/adult-onset spinocerebellar ataxia and late onset progressive external ophthalmoplegia. Several of these syndromes are associated with an encephalopathy that…

  19. 线粒体神经胃肠型脑肌病

    Institute of Scientific and Technical Information of China (English)

    许二赫; 张弥兰


    线粒体神经胃肠型脑肌病( Mitochondrial Neurogastrointestinal Encephalopathy Disease,MNGIE)是一种特殊类型的线粒体肌病,又被称为“多发性神经病伴眼肌麻痹、白质脑病、假性肠梗阻(polyneuropathy ophthalmoplegia leukoencephalopathy and intestinal pseudo-obstruction,POLIP)”,“眼部及胃肠肌营养不良(oculogastrointestinal muscular dystrophy,OGIMD)”,“线粒体脑肌病伴多发周围神经病、眼肌麻痹和假性肠梗阻(mitochondrial myopathy with sensorimotor polyneuropathy,ophthalmoplegia,and pseudo-obstruction,ME-POP)”,MNGIE是最常见的缩写名称.

  20. [Cranio-orbital zygomatic extradural approach for cavernous sinus or Meckel's cave tumors]. (United States)

    Kinjo, T; Mukawa, J; Mekaru, S; Koga, H


    Direct surgery to cavernous sinus (CS) lesions has become one of the optimal treatments based on advancement in microsurgical anatomy and imaging modality, and the progress of microsurgical techniques. We have removed the CS or Meckel's cave tumors extradurally when they do not extend intradurally, using modified Al-Mefty's cranio-orbital zygomatic craniotomy. Three CS tumors; trigeminal neurofibroma, squamous cell carcinoma and chondrosarcoma, and a Meckel's cave meningioma were reported. Total removal was achieved in all but one (case 4). Postoperative complications were permanent ophthalmoplegia in one, transient ophthalmoplegia in one, subcutaneous CSF accumulation in two and trigeminal dysfunction in one. The extradural approach can be the first choice of methods for total removal of tumors when they are confined to the CS or Meckel's cave.

  1. Miller Fisher syndrome: a rare variant of Guillain-Barré syndrome

    Directory of Open Access Journals (Sweden)

    Luciana Pinto Bandeira


    Full Text Available This report describes the case of a 39-year-old male patient who presented to the emergency room with complaints of impaired balance, diplopia, and nasal voice. The patient had a history of upper respiratory tract infection. The initial physical examination revealed ataxia, ophthalmoplegia, and areflexia, which are consistent with the classic triad of Miller Fisher syndrome, considered a benign variant of Guillain-Barré syndrome. The patient developed peripheral facial paralysis during hospitalization. He underwent a treatment with immunoglobulin for five days, resulting in near complete resolution of the ataxia. However, the ophthalmoplegia and areflexia persisted. He was discharged to outpatient follow-up.

  2. Tolosa-Hunt syndrome: a rare case report with uncommon imaging findings and discussion

    Directory of Open Access Journals (Sweden)

    Rajeev Ranjan


    Full Text Available A 45 year old diabetic but non hypertensive female presented with unilateral ptosis and complete external ophthalmoplegia on the left side. All the routine investigations were inconclusive. A signal void change was found in MRI study including angiogram of brain. On performing VEP (visually evoked potential, there was mild left optic pathway dysfunction (axonal and demyelinating. A probable diagnosis of Tolosa-Hunt Syndrome (THS was made and the patient was started on steroids. She responded dramatically to the therapy and was discharged on steroids. Thus the diagnosis of THS was confirmed. On follow up after one month, both her ptosis and ophthalmoplegia had resolved completely. On subsequent follow up visits, she was free of any ophthalmological symptoms and signs. [Int J Res Med Sci 2014; 2(4.000: 1795-1798

  3. Cephalic Tetanus from Penetrating Orbital Wound

    Directory of Open Access Journals (Sweden)

    Eloïse Guyennet


    Full Text Available Tetanus is a neurologic disorder caused by tetanospasmin, a protein toxin elaborated by Clostridium tetani. Cephalic tetanus is a localized form of the disease causing trismus and dysfunction of cranial nerves. We report the case of a man who presented with facial trauma, complete ophthalmoplegia, exophthalmos, areactive mydriasis, and periorbital hematoma. An orbital CT revealed air bubbles in the right orbital apex. The patient was given a tetanus toxoid booster and antibiotherapy. After extraction of a wooden foreign body, the patient developed right facial nerve palsy, disorders of swallowing, contralateral III cranial nerve palsy, and trismus. Only one case of cephalic tetanus from penetrating orbital wound has been reported in literature 20 years ago. When a patient presents with an orbital wound with ophthalmoplegia and signs of anaerobic infection, cephalic tetanus should be ruled out.

  4. [Mitochondrial diseases and stroke]. (United States)

    Irimia, P; Oliveros-Cid, A; Martínez-Vila, E


    We review the mitochondrial diseases in which cerebrovascular changes are seen, such as the MERRF syndrome (myoclonic epilepsy and ragged red fibers) or the Kearns-Sayre syndrome (progressive external ophthalmoplegia, retinitis pigmentaria, cerebellar disorders and disorders of cardiac conduction), focusing on the syndrome involving mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We consider the different clinical aspects, diagnostic methods, pathophysiological mechanisms of the cerebrovascular involvement as well as therapeutic approaches.

  5. Miopatia mitocondrial relato de 12 casos com estudo histoquímico do músculo esquelético


    B. H. Kiyomoto; Gabbai,A. A.; Oliveira,A. S. B.; Schmidt, B.; Lima, J. G. C. [UNIFESP


    Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture was that of ophthalmoplegia, ptosis and muscle weakness found in 10 patients. One presented with exercise intolerance due to muscular aches and pains, and the other besides his muscular weakness had mental retardation and an aggressive behavior. The clinical presentation an...

  6. Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy. (United States)

    Lee, Inn-Chi; Lee, Ni-Chung; Lu, Jang-Jih; Su, Pen-Hua


    The authors describe a newborn with postnatal myopathy who subsequently developed feeding difficulties, ophthalmoplegia, ptosis, encephalopathy, and seizures. She became ventilator dependent after sudden apnea. The myopathy was without ragged red fibers in the muscle biopsy. An electron transport chain study showed a markedly generalized low level of enzyme activity, particularly in complexes I, I + III, and IV. An initial electroencephalogram finding was normal; subsequent electroencephalograms showed suppression bursts. The mitochondrial copy number in skeletal muscle was 2% of normal.

  7. Computed tomography in mitochondrial cytopathy

    Energy Technology Data Exchange (ETDEWEB)

    Egger, J.; Kendall, B.E.


    The clinical and computed tomographic (CT) findings in 11 proven cases of mitochondrial cytopathy (mitochondrial myopathy, Kearns Sayre syndrome, ophthalmoplegia plus) were studied. The CT changes included focal low density lesions in the basal ganglia and white matter and atrophy which could be slight or diffuse and severe. Calcification has been described in the basal ganglia, but did not occur in our series. Serial CT showed progression of the abnormalities. The differential diagnosis is discussed.

  8. Bee sting of the cornea. (United States)

    Singh, G


    Irreversible heterochromia-iridis, internal ophthalmoplegia, and punctate subcapsular lenticular opacities developed in a 9-year-old girl after she received a bee sting in her right cornea. These complications persisted even after an 11-month follow-up period. To the author's knowledge, this presentation is the first of its nature. The pathogenesis of these changes is discussed and the literature is reviewed.

  9. Tolosa-Hunt Syndrome: A Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Sefer Günaydın


    Full Text Available Tolosa-Hunt syndrome (THS is a painful ophthalmoplegia, characterized by cryptogenic granulomatous inflammation of the cavernous sinus and/or superior orbital fissure. Glucocorticoid treatment is used for both diagnostic and therapeutic purposes. According to the Headache classification subcommittee of international headache society criteria, magnetic resonance imaging (MRI or biopsy is necessary for demonstration of the granulomatous inflammation. Here, we present two cases of THS with clinical and MRI findings.

  10. Wernicke-Korsakoff encephalopathy. (United States)

    Pearce, J M S


    Wernicke described the clinical features of three patients, including two alcoholics, suffering from confusion, ataxia and ophthalmoplegia in whom pathologically he found 'polioencephalitis haemorrhagica superioris'. Korsakoff's doctoral thesis related similar findings but expanded the confabulation and amnesic elements, relating them to alcoholism. This paper, which summarises the salient aspects of the syndrome, discusses their work and shows important earlier descriptions by James Jackson, (1822) Samuel Wilks (1868) and Charles Gayet (1875).




    Background: Snakebite is an environmental hazard associated with significant morbidity and mortality. Neurotoxic envenomations have the potency to cause a broad spectrum of presentations starting from ptosis and ophthalmoplegia to respiratory arrest. These patients require ventilatory assistance in addition to administration of anti-snake venom (ASV) and other supportive measures. Mechanically ventilated patients are at risk for retained secretions due to endotracheal intubation disrupting mu...

  12. Accidental mydriasis from blue nightshade "lipstick". (United States)

    Rubinfeld, R S; Currie, J N


    A 7-year-old girl presented with bilaterally dilated pupils, nausea, and vomiting 2 days after head trauma. Pilocarpine pupil testing led to the correct diagnosis of pharmacologic pupillary dilation from an unexpected and unusual source of plant poisoning, Solanum dulcamara (blue nightshade). In patients with internal ophthalmoplegia, awareness of the possibility of pharmacologic mydriasis and correct use of topical pilocarpine testing can preclude the necessity for neuroradiologic and invasive diagnostic studies, even in cases with atypical or complex presentations.

  13. Caring for Machado-Joseph Disease: current understanding and how to help patients


    D’Abreu, Anelyssa; França, Marcondes C.; Paulson, Henry L.; Lopes-Cendes,Iscia


    Machado-Joseph disease or spinocerebellar ataxia 3 (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction and movement disorder. MJD/SCA3 is caused by a CAG repeat expansion mutation in the protein coding region of the ATXN3 gene located at chromosome 14q32.1. Current hypotheses regarding pathogenesis favor the view that mutated ataxin-3, with its polyglutamine expansion, is...

  14. Combined Striatum, Brain Stem, and Optic Nerve Involvement due to Mycoplasma pneumoniae in an Ambulatory Child

    Directory of Open Access Journals (Sweden)

    Jin-Won Bae


    Full Text Available In children, Mycoplasma pneumoniae encephalitis has been characterized by acute onset of an encephalopathy associated with extrapyramidal symptoms and symmetric basal ganglia with or without brain stem involvement on magnetic resonance imaging. Our case, showing unilateral optic neuritis, ophthalmoplegia, no extrapyramidal symptoms, and typical striatal involvement on magnetic resonance imaging, broadens the spectrum of varying clinical manifestations of childhood M. pneumoniae-associated encephalopathy.

  15. De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Mihai Cristina


    Full Text Available Abstract Introduction Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Case presentation We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome, a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA. Conclusion Despite the rarity of this syndrome, the diagnosis was easily made due to the presence of the classic triad: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine.

  16. Miopatia mitocondrial: relato de dois casos Mitochondrial myopathy: two case reports


    Sara Patrícia Grebos; Tatiana Almeida; Karine Horta Barbosa; Michele Agostini Buquera; Ana Tereza Ramos Moreira


    Miopatia mitocondrial é um distúrbio genético caracterizado por oftalmoplegia externa crônica progressiva e ptose palpebral superior, apresentando-se a partir da 3ª e 4ª década de vida. Os autores revisaram a literatura e relataram 2 casos do sexo feminino com diplopia à leitura.Mitochondrial myopathy is a genetic disorder characterized by chronic progressive external ophthalmoplegia and upper eyelid, ptosis which occurs before 30 to 40 years of life. The authors reviewed the literature and r...

  17. Recurrent miller fisher syndrome with abnormal terminal axon dysfunction: a case report. (United States)

    Tomcík, Jan; Dufek, Michal; Hromada, Jan; Rektor, Ivan; Bares, Martin


    Miller Fisher syndrome (MFS) is a localized variant of Guillain-Barré syndrome (GBS), characterized by ophthalmoplegia, areflexia, and ataxia. Recent neurophysiological studies have suggested that abnormal terminal axon dysfunction occurs in some cases of Miller Fisher syndrome and Guillain-Barrd syndrome. We present a rare case report of recurrent MFS with abnormal terminal axon dysfunction. To the best of our knowledge, this is the first case report of recurrent MFS with terminal axon dysfunction that persisted up to nine months after the initial presentation of the second attack with positive antiganglioside antibodies and full clinical recovery.

  18. Neuro-Ophthalmological Manifestations after Intramuscular Medroxyprogesterone: A Forme Fruste of Idiopathic Intracranial Hypertension? (United States)

    Bahall, Mandreker; Reyes, Antonio Jose; Ramcharan, Kanterpersad; Hosein, Nadeem; Seegobin, Karan; Bahall, Krishni; Sharma, Hiranyadeva; Dhansingh, Stephanie; Mahabir, Amanda


    We report a case of a 22-year-old female student nurse who presented to hospital with an acute neuro-ophthalmological syndrome characterized by papilledema, ataxia, ophthalmoplegia and headache after a single first time use of 150 mg medroxyprogesterone intramuscular injection. Clinical, laboratory, radiological and ophthalmological investigations were in keeping with the diagnosis of idiopathic intracranial hypertension but lumbar puncture did not show a raised cerebrospinal fluid pressure suggesting a forme fruste of this entity. Her neuro-ophthalmological clinical features responded well to acetazolamide and diagnostic/therapeutic lumbar puncture. Full recovery was achieved three months after medroxyprogesterone usage. Health care providers must be aware of this adverse drug reaction.

  19. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. (United States)

    Napoli, L; Bordoni, A; Zeviani, M; Hadjigeorgiou, G M; Sciacco, M; Tiranti, V; Terentiou, A; Moggio, M; Papadimitriou, A; Scarlato, G; Comi, G P


    Autosomal dominant progressive external ophthalmoplegia (adPEO) is caused by mutations in at least three different genes: ANT1 (chromosome 4q34-35), TWINKLE, and POLG. The ANT1 gene encodes the adenine nucleotide translocator-1 (ANT1). We identified a heterozygous T293C mutation of the ANT1 gene in a Greek family with adPEO. The resulting leucine to proline substitution likely modifies the secondary structure of the ANT1 protein. ANT1 gene mutations may account for adPEO in families with different ethnic backgrounds.

  20. Gradenigo’s syndrome and thrombosis of the cavernous sinus secundary to acute otitis media

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    Hellín-Meseguer D


    Full Text Available Gradenigo’s syndrome is characterized by facial pain in the area supplied by the trigeminal nerve and a unilateral external ophthalmoplegia (paralysis of VI cranial nerve secondary to acute apical petrositis for evolutionary complication of otitis media. This is a serious complication that requires immediate treatment to prevent permanent damage and may be associated with other intracranial complications such as thrombosis of the cavernous sinus. We report a 4 year old male who complains of fever, headache and external ocular paralysis in the course of acute otitis media.

  1. Skull-base Ewing sarcoma with multifocal extracranial metastases

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    Sumit Thakar


    Full Text Available Intracranial occurrence of Ewing sarcoma (ES is unusual, with a skull-base location being anecdotal. We report a 29-year-old man who presented with rapidly progressive ophthalmoplegia, and was found to be harboring an infiltrative lesion involving the sphenoid sinus, sella, and clivus. He underwent trans-sphenoidal decompression of the lesion which was histologically suggestive of ES. He developed paraparesis 2 weeks after commencing adjuvant therapy. Imaging revealed two thoracic extradural lesions and florid vertebral and pulmonary metastases. This is the first report in indexed literature of a primary intracranial ES on the skull-base with disseminated extracranial disease.

  2. Differentiation of orbital cellulitis from preseptal cellulitis by computed tomography. (United States)

    Goldberg, F; Berne, A S; Oski, F A


    Computed tomography (CT) was used in the management of four patients with periorbital inflammation. These patients were selected for CT scanning because of the difficulty, on clinical examination alone, in determining the degree of orbital disease. The CT scans confirmed the presence and defined the location of an orbital abscess in three patients and eliminated the presence of an abscess in the fourth. On the basis of this experience, CT scanning is recommended in the evaluation of children with periorbital inflammation in whom proptosis, ophthalmoplegia, or loss of visual acuity develops, or in whom severe eyelid edema prevents adequate eye examination.

  3. Burkitt's lymphoma with bilateral cavernous sinus and mediastinal involvement in a child

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    Huisman, Thierry A.G.M.; Tschirch, Frank; Schneider, Jacques F.L.; Martin-Fiori, Ernst; Willi, Ulrich V. [Department of Radiology and Magnetic Resonance Imaging, University Children' s Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich (Switzerland); Niggli, Felix [Department of Paediatrics, University Children' s Hospital Zurich, Zurich (Switzerland)


    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. (orig.)

  4. Anti-MuSK-Positive Myasthenia Gravis in a Patient with Parkinsonism and Cognitive Impairment

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    S. Lanfranconi


    Full Text Available Muscle-specific tyrosine kinase- (MuSK- antibodies-positive Myasthenia Gravis accounts for about one third of Seronegative Myasthenia Gravis and is clinically characterized by early onset of prominent bulbar, neck, shoulder girdle, and respiratory weakness. The response to medical therapy is generally poor. Here we report a case of late-onset MuSK-antibodies-positive Myasthenia Gravis presenting with signs of cognitive impairment and parkinsonism in addition to bulbar involvement and external ophthalmoplegia. The pattern of involvement of both peripheral and central nervous system dysfunction might suggest a common pathogenic mechanism, involving impaired cholinergic transmission.

  5. A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome.

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    Rajiv Raina


    Full Text Available Multiple sclerosis (MS is a chronic disease characterized by inflammation, demyelination, gliosis (scarring, and neuronal loss; the course can be relapsing-remitting or progressive. Manifestations of MS vary from a benign illness to a rapidly evolving and incapacitating disease requiring profound lifestyle adjustments. We report a 24 year old female who presented with right internuclear ophthalmoplegia with right lower motor neuron facial nerve palsy which is called eight and half syndrome. The etiology in our patient was multiple sclerosis which was confirmed by radio-imaging studies. Patient improved on pulse therapy of methyl prednisolone and tapering dose of steroids.

  6. The truth is in the water: metastatic prostate cancer presenting as an intermittent facial nerve palsy. (United States)

    Wooles, N; Gupta, S; Wilkin-Crowe, H; Juratli, A


    An elderly man presented to the acute ear, nose and throat (ENT) services with a history of intermittent, self-limiting facial nerve palsy. Full ENT examination was normal, with all cranial nerves and peripheral neurology intact. Multiple imaging modalities suggested an aggressive bony lesion, secondary to locally advanced prostate malignancy with extensive metastatic infiltration. Prostate cancer is known to preferentially metastasise to bone and has been known to cause multiple cranial nerve palsies and ophthalmoplegia. This is the first case described in the literature of metastatic prostate cancer presenting with intermittent facial nerve palsy.

  7. Wernicke's encephalopathy that developed during the introduction period of peritoneal dialysis. (United States)

    Nakashima, Yuko; Ito, Kenji; Nakashima, Hitoshi; Shirakawa, Aki; Abe, Yasuhiro; Ogahara, Satoru; Sasatomi, Yoshie; Yasunaga, Tomoe; Ifuku, Masakazu; Tsugawa, Jun; Tsuboi, Yoshio; Saito, Takao


    A 43-year-old man was admitted with end-stage renal disease caused by IgA nephropathy, and was treated with maintenance peritoneal dialysis. The patient developed general fatigue and appetite loss, and his symptoms were gradually aggravated by depression. After approximately 2 months on dialysis, the patient presented with altered consciousness and ophthalmoplegia. Wernicke's encephalopathy was diagnosed based on the presence of classic symptoms and the findings on magnetic resonance imaging. Thiamine replacement therapy was immediately initiated. The patient recovered from most of his neurological symptoms; however, the sequela of Korsakoff syndrome remained. A marginal thiamine deficiency in combination with predisposing factors must be considered when treating dialysis patients.

  8. Miopatia mitocondrial: relato de dois casos Mitochondrial myopathy: two case reports

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    Sara Patrícia Grebos


    Full Text Available Miopatia mitocondrial é um distúrbio genético caracterizado por oftalmoplegia externa crônica progressiva e ptose palpebral superior, apresentando-se a partir da 3ª e 4ª década de vida. Os autores revisaram a literatura e relataram 2 casos do sexo feminino com diplopia à leitura.Mitochondrial myopathy is a genetic disorder characterized by chronic progressive external ophthalmoplegia and upper eyelid, ptosis which occurs before 30 to 40 years of life. The authors reviewed the literature and reported two cases of reading diplopia in female patients.

  9. Pituitary metastasis as a presenting manifestation of silent systemic malignancy: A retrospective analysis of four cases

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    P Dutta


    Full Text Available Background: Pituitary metastasis as a presenting manifestation of silent systemic malignancy is rare. We describe four such cases. Materials and Methods: Four patients (0.7% of malignancy with pituitary metastasis out of 540 patients of sellar mass within a period of 10 years were analyzed for clinical, hormonal and radiological findings. Result: The age range of these patients was 39-60 years with lag time ranging from 2to 5 months. Pituitary pathology was presenting manifestation in all 4 patients including diabetes insipidus, ophthalmoplegia and variable anterior pituitary hormone deficiency. 2 patients had bronchogenic carcinoma and one each had squamous cell and adenocarcinoma with unknown primary. Diagnosis of pituitary metastasis was confirmed in three on pituitary mass histopathology and in one it was based on rapidly appearing mass in a short time. Conclusion: Rapidly appearing mass in the sellar region, short lag time,sudden onset of ophthalmoplegia, -symptoms and signs disproportionate to the size of mass, presence of diabetes insipidus and destroyed but normal sized sella should invoke the suspicion of pituitary metastasis.

  10. How to deal with diplopia. (United States)

    Gräf, M; Lorenz, B


    Diplopia is a frequent neuro-ophthalmologic symptom with diverse etiologies. This article describes elementary diagnostic tests and frequent causes of diplopia. Monocular diplopia persists when the other eye is closed and usually disappears when the patient looks through a pinhole. It is usually caused by errors in the optical media of the eye and has to be differentiated from spectacle-induced side effect and non-organic disorders. A sign of non-organic etiology is absence of change in image position when the head is tilted. Binocular diplopia disappears regardless of which eye is closed. Binocular diplopia occurs when the images of both eyes cannot be fused. The most frequent direct cause of diplopia is acquired strabismus. Knowledge of several specific types of strabismus enables efficient patient management. Congenital and decompensating strabismus like accommodative esotropia, pathophoria, strabismus surso- and deorsoadductorius, retraction syndrome, Brown's syndrome and esotropia in high myopia only need ophthalmologic treatment. Orbital injury, orbital tumor, ocular myositis, Graves orbitopathy and vascular disease usually require multidisciplinary management. Neurogenic paresis, superior oblique myokymia, ocular neuromyotonia, myasthenia, chronic progressive external ophthalmoplegia (CPEO), internuclear ophthalmoplegia (INO) and skew deviation require specific neurologic examination. Treatment of diplopia includes treatment of the fundamental disorder, monocular occlusion, prisms and strabismus surgery.

  11. A case of Kearns-Sayre sindrome with autoimmune thyroiditis and complete atrio-ventricular block. (United States)

    Berio, A; Piazzi, A


    The Kearns-Sayre syndrome, (characterized by its onset before the age of 20 years, chronic ophthalmoplegia, pigmentary retinal degeneration and at least one of the following symptoms: ataxia, heart block and high protein content in the cerebrospinal fluid) is a severe variant of chronic progressive external ophthalmoplegia with frequent rearrangements of the mitochondrial DNA (mtDNA). The aim of this paper is to report a sporadic paediatric case of Kearns-Sayre syndrome with mtDNA heteroplasmic deletion, absence of cytochrome c-oxidase in many muscle fibers, autoimmune thyroiditis, complete atrio-ventricular heart block in which the diagnosis of subclinical hypothyroiditis associated with autoimmune thyroid disease was made. The subclinical hypothyroidism, more severe in the presence of thyroid antibodies, may have contributed to the pathogenesis of cardiovascular disease. We hypothesized that in this patient, predisposed by mitochondrial deletion, anti-thyroid antibodies may have interfered with the mitochondrial function of conduction heart system, causing atrio-ventricular heart block. It seems important to study anti-thyroid antibodies in every case of Kearn-Sayre syndrome, specially if cardiac rhythm disturbances are present.

  12. A pediatric case of pituitary macroadenoma presenting with pituitary apoplexy and cranial nerve involvement: case report (United States)

    Özçetin, Mustafa; Karacı, Mehmet; Toroslu, Ertuğ; Edebali, Nurullah


    Pituitary adenomas usually arise from the anterior lobe of the pituitary gland and are manifested with hormonal disorders or mass effect. Mass effect usually occurs in nonfunctional tumors. Pituitary adenomas may be manifested with visual field defects or rarely in the form of total oculomotor palsy. Visual field defect is most frequently in the form of bitemporal hemianopsia and superior temporal defect. Sudden loss of vision, papilledema and ophthalmoplegia may be observed. Pituitary apoplexy is defined as an acute clinical syndrome characterized with headache, vomiting, loss of vision, ophthalmoplegia and clouding of consciousness. The problem leading to pituitary apoplexy may be decreased blood supply in the adenoma and hemorrhage following this decrease or hemorrhage alone. In this article, we present a patient who presented with fever, vomiting and sudden loss of vision and limited outward gaze in the left eye following trauma and who was found to have pituitary macroadenoma causing compression of the optic chiasma and optic nerve on the left side on cranial and pituitary magnetic resonance imaging.

  13. Understanding the Neuro-ophthalmology of Head Trauma: A Review of the Current Literature. (United States)

    Samra, Khawla Abu


    Head trauma is a major medical, social, economic, national, and public health priority issue in the United States. In severe head trauma, the overwhelming clinical manifestations are so compelling that damage to the visual system is most likely to be ignored. Both the afferent and efferent visual systems are susceptible to injury after head trauma, and physicians should be aware of the visual system and perform a thorough neuro-ophthalmic evaluation in patients presenting with head trauma.Most of the data available on neuro-ophthalmic complications of head trauma including cortical blindness, Horner's syndrome, traumatic internuclear ophthalmoplegia, and ocular motor palsy, comes from case reports highlighting the need for future studies to better understand these complications.This review summarizes some of the most important neuro-ophthalmic complications of head trauma including cortical blindness, Horner's syndrome, traumatic internuclear ophthalmoplegia, and ocular motor palsy. Search of the peer-reviewed literature was conducted using MEDLINE, Cumulative Index to Nursing and Allied Health Literature, Cochrane Library, Global Health, and MD Consult.

  14. An overlap case of Fisher syndrome and pharyngeal-cervical-brachial variant of Guillain-Barré syndrome associated with urinary retention and constipation. (United States)

    Sakai, Toshiyuki; Kondo, Masahide; Tomimoto, Hidekazu; Yamagishi, Yuko


    We report a 28-year-old woman with the overlap of Fisher syndrome and pharyngeal-cervical-brachial variant of Guillain-Barré syndrome associated with urinary retention and constipation. She showed total ophthalmoplegia, dysphagia, dysarthria, upper extremity weakness, cerebellar ataxia, slightly diminished superficial sensations in her hands and feet, urinary retention and constipation 14 days after preceding infection. Laboratory data showed elevations of antiganglioside antibodies to GT1b, GD1b, GQ1b, GD3 and GT1a in the IgG subclass. There was slight elevation of protein with no pleocytosis in cerebrospinal fluid. After administration of intravenous immunoglobulin (IVIg), only the titer of antiganglioside antibody to GQ1b was decreased, and she showed rapid improvement in dysphagia, urinary retention and constipation, and slow recovery in ophthalmoplegia and cerebellar ataxia. The elevations of antiganglioside antibodies to GQ1b may be pathologically related to autonomic involvement such as urinary retention and constipation in that IVIg seems to be effective. The present case suggests that GQ1b may also locate in the autonomic nerve that plays bladder and defecation functions, and that incidence of neurological symptoms and the response of treatment may differ according to each GQ1b localization.

  15. Unilateral Abducens Nerve Palsy as an Early Feature of Multiple Mononeuropathy Associated with Anti-GQ1b Antibody

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    Ryuta Kinno


    Full Text Available Patients with anti-GQ1b antibody syndrome show various combinations of ophthalmoplegia, ataxia, areflexia, or altered sensorium as clinical features. We describe herein a unique case with unilateral abducens nerve palsy as an early feature of multiple mononeuropathy involving dysfunctions of the inferior dental plexus and the ulnar nerve, which was thought to be associated with anti-GQ1b antibody. A 27-year-old man presented with acute-onset diplopia. He subsequently experienced numbness not only in the right lower teeth and gums but also on the ulnar side of the left hand. Neurological examinations revealed dysfunctions of the right abducens nerve, the right inferior dental plexus, and the left ulnar nerve, suggesting multiple mononeuropathy. Serum anti-GQ1b antibody was positive. This is a rare case report of a patient with unilateral abducens nerve palsy as an early feature of multiple mononeuropathy associated with anti-GQ1b antibody. We suggest that anti-GQ1b antibody syndrome should be taken into consideration as a differential diagnosis of acute multiple mononeuropathy if ophthalmoplegia is present unilaterally.

  16. A pediatric case of pituitary macroadenoma presenting with pituitary apoplexy and cranial nerve involvement: case report. (United States)

    Özçetin, Mustafa; Karacı, Mehmet; Toroslu, Ertuğ; Edebali, Nurullah


    Pituitary adenomas usually arise from the anterior lobe of the pituitary gland and are manifested with hormonal disorders or mass effect. Mass effect usually occurs in nonfunctional tumors. Pituitary adenomas may be manifested with visual field defects or rarely in the form of total oculomotor palsy. Visual field defect is most frequently in the form of bitemporal hemianopsia and superior temporal defect. Sudden loss of vision, papilledema and ophthalmoplegia may be observed. Pituitary apoplexy is defined as an acute clinical syndrome characterized with headache, vomiting, loss of vision, ophthalmoplegia and clouding of consciousness. The problem leading to pituitary apoplexy may be decreased blood supply in the adenoma and hemorrhage following this decrease or hemorrhage alone. In this article, we present a patient who presented with fever, vomiting and sudden loss of vision and limited outward gaze in the left eye following trauma and who was found to have pituitary macroadenoma causing compression of the optic chiasma and optic nerve on the left side on cranial and pituitary magnetic resonance imaging.

  17. Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. (United States)

    Liskova, Petra; Ulmanova, Olga; Tesina, Petr; Melsova, Hana; Diblik, Pavel; Hansikova, Hana; Tesarova, Marketa; Votruba, Marcela


    To identify the underlying molecular genetic cause in a Czech family with optic atrophy, deafness, ptosis, ophthalmoplegia, polyneuropathy and ataxia transmitted as an autosomal dominant trait. Ophthalmological and neurological examination followed by molecular genetic analyses. Seven family members were clinically affected. There was a variable but progressive visual, hearing and neurological disability across the family as a whole. The majority of subjects presented with impairment of visual function and a variable degree of ptosis and/or ophthalmoplegia from the first to the third decade of life. Deafness, neuropathy and ataxia appeared later, in the third and fourth decade. Migraine, tachycardia, intention tremor, nystagmus and cervical dystonia were observed in isolated individuals. A significant overall feature was the high level of neurological disability leading to 3 of 4 members being unable to walk or stand unaided before the age of 60 years. A novel missense mutation c.1345A>C (p.Thr449Pro) in OPA1 segregating with the disease phenotype over three generations was detected. In silico analysis supported pathogenicity of the identified sequence variant. Our work expands the spectrum of mutation in OPA1, which may lead to severe multisystem neurological disorder. The molecular genetic cause of dominant optic atrophy in the Czech population is reported for the first time. We propose that regular cardiac follow-up in patients diagnosed with dominant optic atrophy and widespread neurological disease should be considered. © 2013 The Authors. Acta Ophthalmologica © 2013 Acta Ophthalmologica Scandinavica Foundation.

  18. Ophthalmoplegic migraine with reversible thalamic ischemia by Tc-99m ethylcysteinate dimer brain SPECT

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    Kim, Jong Ho; Shin, Dong Jin; Kang, Sung Soo [Gachon Medical School, Gil Medical Center, Inchon (Korea, Republic of)


    Two patients presented with ophthalmoplegic migraine (OM) underwent EEG, Brain-MRI, cerebral angiography, and Tc-99m ECD SPECT during an attack. Follow-up SPECT was performed after neurologic symptoms resolved. In both cases, SPECT during an attack of ophthalmoplegia and headache demonstrated a significantly decreased regional cerebral blood flow in the thalamus to the side of ophthalmoplegia, which was normalized on the follow-up SPECT during a symptom free recovery phase (Lesion to Non-lesion thalamic ratio=1.19 to 0.96 and 1.16 to 0.98, respectively). The other roentgenographic and laboratory findings were normal. These findings are suggestive the ischemia in the perforators of PCA results in third nerve palsy because the portion of oculomotor nerve behind the cavernous sinus derives its blood supply from small perforating branches of the basilar and PCA. Matched ictal hypoperfusion of the thalamus to the site of ophthalmoplegic migraine is suggestive of the ischemic neuropathy as an etiology of OM.

  19. A case of Bickerstaff's brainstem encephalitis in childhood

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    Ji Youn Kim


    Full Text Available Bickerstaff's brainstem encephalitis (BBE is a rare disease diagnosed by specific clinical features such as 'progressive, relatively symmetric external ophthalmoplegia and ataxia by 4 weeks' and 'disturbance of consciousness or hyperreflexia' after the exclusion of other diseases involving the brain stem. Anti-ganglioside antibodies (GM, GD and GQ in the serum or cerebrospinal fluid (CSF are sometimes informative for the diagnosis of BBE because of the rarity of positive findings in other diagnositic methods: brain magnetic resonance imaging (MRI, routine CSF examination, motor nerve conduction study, and needle electromyography. We report a rare case of childhood BBE with elevated anti-GM1 antibodies in the serum, who had specific clinical symptoms such as a cranial polyneuropathy presenting as ophthalmoplegia, dysarthria, dysphagia, and facial weakness; progressive motor weakness; altered mental status; and ataxia. However, the brain MRI, routine CSF examination, nerve conduction studies, electromyography, somatosensory evoked potentials, and brainstem auditory evoked potentials were normal. BBE was suspected and the patient was successfully treated with intravenous immunoglobulins.

  20. Congenital fiber type disproportion--30 years on. (United States)

    Clarke, Nigel F; North, Kathryn N


    Thirty years ago, M. H. Brooke coined the term "congenital fiber type disproportion" (CFTD) to describe 12 children who had clinical features of a congenital myopathy and relative type 1 fiber hypotrophy on muscle biopsy. It is now clear that this histological pattern can accompany a wide range of neurological disorders, leading to disillusionment with CFTD as a distinct nosological entity. To determine whether the CFTD has clinical utility as a diagnostic entity, we have reviewed the literature for cases of type 1 fiber hypotrophy and have used strict exclusion criteria to identify 67 cases of CFTD. Most patients presented at birth with weakness and hypotonia, had normal intelligence, and followed a static or improving clinical course. In 43% of families, more than 1 individual was affected. Failure to thrive was common and 25% of patients had contractures or spinal deformities. Bulbar weakness and ophthalmoplegia were less common and cardiac involvement was rare. Twenty-five percent followed a severe course and 10% had died at the time of reporting, all from respiratory failure. Ophthalmoplegia and facial and bulbar weakness were significantly associated with a poorer prognosis. The relatively homogeneous phenotype supports the retention of CFTD as a distinct diagnostic entity and familial occurrence suggests a genetic basis. Regarding the diagnosis of CFTD, we found no strong evidence that the minimum difference between type 1 and type 2 fiber sizes should be increased from 12% to 25%. We also list the other reported causes of relative type 1 fiber hypotrophy to aid their exclusion from CFTD.

  1. Síndrome de Tolosa-Hunt: dificuldades no diagnóstico e padrão de resposta à prednisona Tolosa-Hunt syndrome: troubles in diagnosing and pattern of response to prednisone

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    Paulo Eduardo Mestrinelli Carrilho


    Full Text Available A síndrome de Tolosa-Hunt (STH consiste de oftalmoplegia dolorosa relacionada a processo inílamatório granulomatoso no seio cavernoso. Seu diagnóstico só pode ser firmado quando outras causas potenciais de oftalmoplegia dolorosa forem descartadas. Resposta satisfatória e padronizada a corticosteróides, associada a evolução benigna, pode reforçar essa possibilidade, embora pseudotumor orbitário e neoplasias do tipo linfoma e até meningioma possam suscitar dúvidas no diagnóstico diferencial, pois também podem apresentar boa resposta a essa medicação. Faz-se necessário, portanto, ampla investigação complementar. Apresentamos estudo clínico-radiológico-laboratorial de cinco pacientes com STH. Prednisona foi utilizada em doses entre 40 e 80 mg/dia. Houve resposta analgésica excelente, com remissão da dor em menos de 48 horas em 4 pacientes. Houve melhora mais lenta da oftalmoplegia, que regrediu completamenteentre 4 e 45 dias em todos os pacientes.The Tolosa-Hunt syndrome (THS consists of a painful ophthalmoplegia related to granulomatous inflammatory process in the cavernous sinus. According to recent concepts, the diagnosis is established only when other causes of painful ophthalmoplegia are ruled out. A typical pattern of response to corticosteroids associated with a benign evolution may reinforce this possibility. Tumors such as lymphoma and meningioma and orbital pseudotumors can make difficult the differential diagnosis because they also may respond to steroids. Thus it is always necessary to make an extensive ancillary investigation. We performed a clinical, laboratory and radiologic study of five patients with THS. Prednisone was used in all, with dosages ranging from 40 to 80 mg/day. In four patients there was a dramatic analgesic effect in less than 48 hours. Improvement of the ophthalmoplegia was not so fast but occurred in all with a complete remission in 4 to 45 days.

  2. Bilateral multiple extraocular muscle metastasis from breast carcinoma

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    Ramesh Murthy


    Full Text Available We report a rare presentation of an initially misdiagnosed case of a pseudotumor, which on histopathology was diagnosed as bilateral breast metastases of lobular carcinoma involving multiple extraocular muscles. A 61-year-old lady presented with external ophthalmoplegia and diplopia. Incisional biopsy was performed using a lid crease approach and the patient received radiotherapy and hormonal therapy. Following prolonged hormonal therapy, complete remission was achieved, with improvement in ocular motility and resolution of diplopia, about 18 months after the initial presentation. Multiple extraocular muscle involvement by breast carcinoma metastasis is very rare and should be considered in the differential diagnosis, especially in patients with a prior history of breast carcinoma.

  3. Recurrent Fisher-Bickerstaff syndrome: report of a Chinese case

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    DONG Hui-qing; LIU Zheng; TANG Yi; LU Yan; WANG Qi; JIA Jian-ping


    Fisher-Bickerstaff syndrome (FBS) was recently proposed to help to diagnose the conditions that overlap Fisher syndrome and Bickerstaff's brainstem encephalitis,as well as the unclassified conditions that had ophthalmoplegia and ataxia with clear consciousness,flexor plantar response and preserved tendon reflexes.Recurrences are exceptional presented with recurrent drowsiness,unsteady gait,diplopia and reduced deep tendon reflexes,which met the diagnostic criteria for FBS.The interval was eight months.He was treated with intravenous immunoglobulins during each episode and got good recovery.To our knowledge,this is a relatively early report about recurrent FBS case that had central and peripheral involvement during each episode in China.

  4. Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses (United States)

    Ghadiali, Larissa K.; Brannagan III, Thomas H.; Moonis, Gul; Faust, Phyllis L.; Odel, Jeffrey G.


    A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES) was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM) as the cause of her progressive muscle weakness. Although rare, external ophthalmoplegia has been described in the literature as a presenting symptom in SLONM. To elucidate the pathological mechanism for the patient's diplopia, an MRI of the orbits was performed, which revealed findings consistent with SES. This case aims to highlight the importance of integrating clinical findings during the diagnostic process and serves as a reminder that diplopia can be a common symptom for an uncommon diagnosis. PMID:28182120


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    Full Text Available : The association of antiphospholipid antibodies with vascular thrombotic episodes is well established. In absence of other connective tissue disease such an association is very rare & known as the primary antiphospholipid antibody syndrome. Cerebral venous sinus thrombosis is associated with hypercoaguable states and a number of immune-mediated conditions. However the report of cerebral venous sinus thrombosis with antiphospholipid antibodies alone is limited. Here a case presenting with painful bilateral ophthalmoplegia with bilateral optic disc edema (due to raised intra cranial tension showing positive lupus anticoagulant in serum and right central venous sinus (transverse and sigmoid thrombosis on MRI and MR venogram is reported which showed clinical improvement with anticoagulant therapy

  6. 伴糖尿病遗传综合征(续)慢性进行性眼外肌麻痹综合征(Kearns-Sayre综合征)

    Institute of Scientific and Technical Information of China (English)


    @@ 慢性进行性眼外肌麻痹综合征(chronic progressive external ophthalmoplegia syndrome)目前病因尚未明确,50%有家族史,认为系线粒体肌病中的一个亚型;也有人提到自身免疫或脂质代谢异常.临床突出特征系眼外肌麻痹.本征最早于1868年由Von Graefe首先做过描述,呈慢性进行性上睑下垂与眼球运动障碍;关于其原因,不同时期,不同学者都作过不同报道.目前多倾向是一种遗传综合征.

  7. The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene. (United States)

    Keilland, E; Rupar, C A; Prasad, Asuri N; Tay, K Y; Downie, A; Prasad, C


    m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia).

  8. Granulomatous hypophysitis by Mycobacterium gordonae in a non HIV-infected patient

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    José Luis Ruiz-Sandoval


    Full Text Available Lymphocytic or granulomatous hypophysitis is a rare entity with a difficult diagnosis. Our objective was to report a patient with non-tuberculous granulomatous hypophysitis. An HIV-negative 45-year old man with confusional state, subacute ophthalmoplegia, and clinical and laboratory findings of panhypopituitarism was seen in the emergency unit. A cranial MRI showed a sellar mass suggestive of hypophysitis. After an unsuccessful attempt with steroids and antituberculous drugs the patient died. Post-mortem histopathology revealed granulomatous lesions and restriction fragment length polymorphism analysis confirmed the presence of Mycobacterium gordonae’s DNA. In conclusion, we should consider granulomatous hypophysitis in the differential diagnosis of non-secreting hypophyseal tumors. The etiology of a pituitary granuloma by a non-tuberculous mycobacteria is best reached by histopathological techniques and molecular assays. The optimal therapy is yet to be established.

  9. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

    DEFF Research Database (Denmark)

    Antonicka, Hana; Østergaard, Elsebet; Sasarman, Florin


    We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who developed Leigh syndrome, optic atrophy, and ophthalmoplegia. Analysis of the assembly of the oxidative phosphorylation complexes showed...... severe decreases of complexes I, IV, and V and a smaller decrease in complex III. The steady-state levels of mitochondrial mRNAs, tRNAs, and rRNAs were not reduced, nor were those of the mitochondrial translation elongation factors or the protein components of the mitochondrial ribosome. Using...... includes mtRF1a, mtRF1, and Ict1, all characterized by the presence of a GGQ motif at the active site. However, C12orf65 does not exhibit peptidyl-tRNA hydrolase activity in an in vitro assay with bacterial ribosomes. We suggest that it might play a role in recycling abortive peptidyl-tRNA species...

  10. Wernicke Encephalopathy Presenting in a Patient with Severe Acute Pancreatitis

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    Ana Cecilia Arana-Guajardo


    Full Text Available Context Acute pancreatitis can lead to prolonged fasting and malnutrition. Many metabolic changes, including thiamine deficiency, may lead to the well know pancreatic encephalopathy. In this condition however the thiamine deficiency is rarely suspected. Case report We report the case of a 17-year-old woman with severe acute pancreatitis who developed mental status changes and ophthalmoplegia. A magnetic resonance image showed hyperintensive signals in periventricular areas, medial thalamus, and mammillary bodies, findings consistent with the diagnosis of Wernicke encephalopathy. Thiamine treatment reversed neurological complications. Conclusion Wernicke encephalopathy secondary to thiamine deficiency should be considered as a possible cause of acute mental status changes in patients with acute pancreatitis and malnutrition. Prophylactic doses of thiamine could be considered in susceptible patients.

  11. Intracranial Aspergillosis in an Immunocompetent Young Woman. (United States)

    Panda, Prasan Kumar; Mavidi, Sunil Kumar; Wig, Naveet; Garg, Ajay; Nalwa, Aasma; Sharma, M C


    Intracranial aspergillosis (ICA) is very rare in the immunocompetent individuals, usually misdiagnosed as a tumor or an abscess. A high index of clinical suspicion is required in patients who present with focal neurological deficits, headache, or seizures. We report the case of a 25-year-old immunocompetent female, who presented with a 15-month history of headache, seizures, left-sided proptosis and ophthalmoplegia, and right hemiparesis. Recovery from the symptoms and decrease in the lesion size seen on the radiological assessment were achieved through two decompressive craniotomies followed by prolonged combined systemic antifungal therapies. Although the initial neuroimaging suggested a mitotic pathology, the surgical sample confirmed ICA. Now the patient is on single antifungal therapy (Tab. voriconazole, 200 mg twice daily) and doing her daily activities, but with a reduced intelligent quotient. We report a challenging case of ICA where multiple courses of combined antifungal therapies and repeat surgeries paved the way for a good prognosis.

  12. Isolated, complete paralytic mydriasis secondary to herpes zoster ophthalmicus. (United States)

    Czyz, Craig N; Bacon, Thomas S; Petrie, Thomas P; Justice, Joshua D; Cahill, Kenneth V


    Herpes zoster ophthalmicus is a manifestation of herpes zoster when the ophthalmic division of the trigeminal nerve becomes involved. Ocular symptoms are varied and mainly due to inflammatory mechanisms. Total, external and/or internal ophthalmoplegias, as well as isolated third, fourth and sixth cranial nerve palsies have all been reported as complications. In a minority of cases, concurrent pupillary paralysis has been documented. The presentation of complete paralytic mydriasis as the sole cranial nerve complication following herpes zoster ophthalmicus infection is a rare finding. The postulated pathophysiologic aetiology is a partial third nerve palsy with the pupillary fibres for light and accommodation-convergence affected and motor fibres spared. The mechanism responsible for the postulated lesion is speculative.

  13. A Fatal Case of Wernicke’s Encephalopathy after Sleeve Gastrectomy for Morbid Obesity

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    Dimitrios K. Manatakis


    Full Text Available Wernicke’s encephalopathy is an acute neuropsychiatric disorder, due to thiamine (vitamin B1 deficiency. It is traditionally described in chronic alcohol abusers; however obesity surgery is an emerging cause, as the number of bariatric procedures increases. A high index of clinical suspicion is required, since initial symptoms may be nonspecific and the classic triad of ophthalmoplegia, gait and stance disorders, and mental confusion is present only in one-third of patients. Laboratory tests can be within normal range and typical MRI brain lesions are found only in 50% of cases. Aggressive supplementation with intravenous thiamine should not be delayed until confirmation of diagnosis, as it may fully reverse symptoms, but almost half the patients will still display permanent neurological deficit. We present our experience with a fatal case of Wernicke’s encephalopathy, following laparoscopic sleeve gastrectomy for morbid obesity.

  14. Miller-Fisher Syndrome: Are Anti-GAD Antibodies Implicated in Its Pathophysiology?

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    Ioannis E. Dagklis


    Full Text Available Miller-Fisher syndrome (MFS is considered as a variant of the Guillain-Barre syndrome (GBS and its characteristic clinical features are ophthalmoplegia, ataxia, and areflexia. Typically, it is associated with anti-GQ1b antibodies; however, a significant percentage (>10% of these patients are seronegative. Here, we report a 67-year-old female patient who presented with the typical clinical features of MFS. Workup revealed antibodies against glutamic acid decarboxylase (GAD in relatively high titers while GQ1b antibodies were negative. Neurological improvement was observed after intravenous gamma globulin and follow-up examinations showed a continuous clinical amelioration with simultaneous decline of anti-GAD levels which finally returned to normal values. This case indicates that anti-GAD antibodies may be associated with a broader clinical spectrum and future studies in GQ1b-seronegative patients could determine ultimately their clinical and pathogenetic significance in this syndrome.

  15. Ocular manifestations of mitochondrial disease

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    S. D. Mathebula


    Full Text Available Mitochondrial disease caused by mutations in mitochondrial DNA is recognized as one of the most common causes of inherited neurological disease. Neuro-ophthalmic manifestations are a common feature of mitochondrial disease.  Optic atrophy causing central visual loss is the dominant feature of mitochondrial DNA diseases. Nystagmus is also encountered in mitochondrial disease.Although optometrists are not involved with the management of mitochondrial disease, they are likely to see more patients with this disease. Oph-thalmic examination forms part of the clinical assessment of mitochondrial disease. Mitochondrial disease should be suspected in any patient with unexplained optic neuropathy, ophthalmoplegia, pigmentary retinopathy or retrochiasmal visual loss. Despite considerable advances in the under-standing of mitochondrial genetics and the patho-genesis of mtDNA diseases, no effective treatment options are currently available for patients withmitochondrial dysfunction. (S Afr Optom 201271(1 46-50

  16. Defects of mitochondrial DNA replication. (United States)

    Copeland, William C


    Mitochondrial DNA is replicated by DNA polymerase γ in concert with accessory proteins such as the mitochondrial DNA helicase, single-stranded DNA binding protein, topoisomerase, and initiating factors. Defects in mitochondrial DNA replication or nucleotide metabolism can cause mitochondrial genetic diseases due to mitochondrial DNA deletions, point mutations, or depletion, which ultimately cause loss of oxidative phosphorylation. These genetic diseases include mitochondrial DNA depletion syndromes such as Alpers or early infantile hepatocerebral syndromes, and mitochondrial DNA deletion disorders, such as progressive external ophthalmoplegia, ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy. This review focuses on our current knowledge of genetic defects of mitochondrial DNA replication (POLG, POLG2, C10orf2, and MGME1) that cause instability of mitochondrial DNA and mitochondrial disease.

  17. Paediatric Orbital Fractures: The Importance of Regular Thorough Eye Assessment and Appropriate Referral

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    Karim Kassam


    Full Text Available The paediatric orbital fracture should always raise alarm bells to all clinicians working in an emergency department. A delay or failure in diagnosis and appropriate referral can result in rapidly developing and profound complications. We present a boy of childhood age who sustained trauma to his eye during a bicycle injury. Acceptance of the referral was based on no eye signs; however, on examination in our unit the eye had reduction in visual acuity, no pupillary reaction, and ophthalmoplegia. CT scan suggested bone impinging on the globe and the child was rushed to theatre for removal of the bony fragment. Postoperatively no improvement was noted and a diagnosis of traumatic optic neuropathy was made. An overview of factors complicating paediatric orbital injuries, their associated “red flags”, and appropriate referral are discussed in this short paper.

  18. Palatal insufficiency as isolated sign of GQ1b antibody syndrome. (United States)

    Verhelst, Helene; Maes, Michaela; Deblaere, Karel; Van Coster, Rudy


    Antiganglioside GQ1b antibodies mediate a continuum of disorders with overlapping features, fostering the concept of anti-GQ1b antibody syndrome. We present a patient whose palatal insufficiency was the only clinical sign of postinfectious GQ1b antibody syndrome. Cerebral magnetic resonance imaging confirmed involvement of the glossopharyngeal nerve and vagus nerve bilaterally, revealing gadolinium enhancement of both nerves bilaterally and thickening of the left nervus vagus. Magnetic resonance imaging may help in diagnosing postinfectious GQ1b antibody syndrome, especially at early stages and in monosymptomatic patients. Early diagnosis may lead to early therapy, resulting in a milder disease course by preventing further deterioration leading to the ataxia and ophthalmoplegia usually observed in patients with postinfectious GQ1b antibody syndrome.

  19. Saccadic Alterations in Severe Developmental Dyslexia

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    Stefano Pensiero


    Full Text Available It is not sure if persons with dyslexia have ocular motor deficits in addition to their deficits in rapid visual information processing. A 15-year-old boy afflicted by severe dyslexia was submitted to saccadic eye movement recording. Neurological and ophthalmic examinations were normal apart from the presence of an esophoria for near and slightly longer latencies of pattern visual evoked potentials. Subclinical saccadic alterations were present, which could be at the basis of the reading pathology: (1 low velocities (and larger durations of the adducting saccades of the left eye with undershooting and long-lasting postsaccadic onward drift, typical of the internuclear ophthalmoplegia; (2 saccades interrupted in mid-flight and fixation instability, which are present in cases of brainstem premotor disturbances.

  20. Neuro-ophthalmological manifestations after intramuscular medroxyprogesterone: a forme fruste of idiopathic intracranial hypertension?

    Directory of Open Access Journals (Sweden)

    Mandreker Bahall


    Full Text Available We report a case of a 22-year-old female student nurse who presented to hospital with an acute neuro-ophthalmological syndrome characterized by papilledema, ataxia, ophthalmoplegia and headache after a single first time use of 150 mg medroxyprogesterone intramuscular injection. Clinical, laboratory, radiological and ophthalmological investigations were in keeping with the diagnosis of idiopathic intracranial hypertension but lumbar puncture did not show a raised cerebrospinal fluid pressure suggesting a forme fruste of this entity. Her neuro-ophthalmological clinical features responded well to acetazolamide and diagnostic/ therapeutic lumbar puncture. Full recovery was achieved three months after medroxyprogesterone usage. Health care providers must be aware of this adverse drug reaction.

  1. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. (United States)

    Spelbrink, J N; Li, F Y; Tiranti, V; Nikali, K; Yuan, Q P; Tariq, M; Wanrooij, S; Garrido, N; Comi, G; Morandi, L; Santoro, L; Toscano, A; Fabrizi, G M; Somer, H; Croxen, R; Beeson, D; Poulton, J; Suomalainen, A; Jacobs, H T; Zeviani, M; Larsson, C


    The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report here a novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases. Twinkle colocalizes with mtDNA in mitochondrial nucleoids. Screening of the gene encoding Twinkle in individuals with autosomal dominant progressive external ophthalmoplegia (adPEO), associated with multiple mtDNA deletions, identified 11 different coding-region mutations co-segregating with the disorder in 12 adPEO pedigrees of various ethnic origins. The mutations cluster in a region of the protein proposed to be involved in subunit interactions. The function of Twinkle is inferred to be critical for lifetime maintenance of human mtDNA integrity.

  2. Role of adenine nucleotide translocator 1 in mtDNA maintenance. (United States)

    Kaukonen, J; Juselius, J K; Tiranti, V; Kyttälä, A; Zeviani, M; Comi, G P; Keränen, S; Peltonen, L; Suomalainen, A


    Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but is characterized by large-scale mitochondrial DNA (mtDNA) deletions. We have identified two heterozygous missense mutations in the nuclear gene encoding the heart/skeletal muscle isoform of the adenine nucleotide translocator (ANT1) in five families and one sporadic patient. The familial mutation substitutes a proline for a highly conserved alanine at position 114 in the ANT1 protein. The analogous mutation in yeast caused a respiratory defect. These results indicate that ANT has a role in mtDNA maintenance and that a mitochondrial disease can be caused by a dominant mechanism.

  3. Five cases of a Joseph disease family with non-REM sleep apnea and MRI study

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    Kitamura, Junichi; Tsuruta, Kazuhito; Yamamura, Yoshinori; Kurihara, Teruyuki; Matsukura, Shigeru


    Four male and one female patients of a new Joseph disease family in southern Kyushu are presented. This disorder is inherited by autosomal dominant trait. The clinical symptoms are characterized by bulging eyes, ophthalmoplegia, dysarthria, rigospasticity of the lower limbs, marked dystonia and bradykinesia. In our cases, extrapyramidal symptoms were improved by amantadine and L-dopa therapy. CSF homovanilic acid (HVA) was markedly reduced. Muscle biopsy and electromyographic studies revealed neurogenic changes. MRI revealed mild atrophy of frontal lobe and cerebellum, and marked atrophy of brain stem. These findings were consistent with the clinical manifestations. Our case had central type sleep apnea by sleep EEG and polygraphic studies. This is the first report about sleep apnea and MRI of Joseph disease.

  4. Central retinal artery occlusion with concomitant ipsilateral cerebral infarction after cosmetic facial injections. (United States)

    Hong, Jeong-Ho; Ahn, Seong Joon; Woo, Se Joon; Jung, Cheolkyu; Chang, Jun Young; Chung, Jin-Heon; Han, Moon-Ku


    We report 2 cases of central retinal artery occlusion with concomitant ipsilateral cerebral infarction after cosmetic facial injections and a literature review. The 2 patients were two healthy women, in which cosmetic facial injections with autologous fat and filler were performed, respectively. The patients had no light perception at the final visit and their conditions led to memory retrieval disturbance in case 1 and right arm weakness, dysarthria, facial palsy, and ophthalmoplegia in case 2. Neuroimaging showed multifocal small infarctions in the ipsilateral frontal lobe with occlusion of the ophthalmic artery in case 1 and multiple infarctions in the ipsilateral anterior and middle cerebral artery territories with subsequent hemorrhagic transformation in case 2. Poor visual prognosis and neurological complications can occur in healthy adults undergoing cosmetic facial injection, and all patients should be informed of this risk before the procedure.

  5. [Pathophysiology of Ataxia in Fisher Syndrome]. (United States)

    Kuwabara, Satoshi


    Fisher syndrome is regarded as a peculiar inflammatory neuropathy associated with ophthalmoplegia, ataxia, and areflexia. The disorder is associated with preceding infection, cerebrospinal fluid albumino-cytological dissociation, and spontaneous recovery, and regarded as a variant of Guillain-Barré syndrome. The discovery of anti-GQ1b IgG antibodies led to dramatic advances in understanding the pathophysiology of Fisher syndrome. The lesions in Fisher syndrome are determined by expression of ganglioside GQ1b in the human nervous system. This review article focuses on the pathophysiology of ataxia in Fisher syndrome. Current evidence suggests that antibody attack on Group Ia neurons in the dorsal root ganglia is mainly responsible for the sensory ataxia. Involvement of the muscle spindles might also contribute to the development of ataxia.

  6. Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

    Directory of Open Access Journals (Sweden)

    Marcus Vinicius Cristino de Albuquerque


    Full Text Available The spinocerebellar ataxias (SCA are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7 is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.

  7. Anti-musk positive myasthenia gravis and three semiological cardinal signs

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    André P.C. Matta


    Full Text Available Myasthenia gravis (MG is a relatively uncommon disorder with an annual incidence of approximately 7 to 9 new cases per million. The prevalence is about 70 to 165 per million. The prevalence of the disease has been increasing over the past five decades. This is thought to be due to better recognition of the condition, aging of the population, and the longer life span of affected patients. MG causes weakness, predominantly in bulbar, facial, and extra-ocular muscles, often fluctuating over minutes to weeks, in the absence of wasting, sensory loss, or reflex changes. The picture of fluctuating, asymmetric external ophthalmoplegia with ptosis and weak eye closure is virtually diagnostic of myasthenia. We report an atypical MG case with three semiological cardinal signs.

  8. Meningioma involving Meckel's cave: transpetrosal surgical anatomy and clinical considerations. (United States)

    Choo, Daniel I; Steward, David L; Pensak, Myles L


    Meningiomas originating in Meckel's cave (MC) are uncommon lesions that represent 1% of all intracranial meningiomas. Innovations in skull base surgery have enabled resection of these lesions with less morbidity, but require an intimate knowledge of both lesional pathology and regional microneuroanatomy. To review the surgical and clinical considerations involved in the management of MC meningiomas, we retrospectively reviewed data from patients who underwent transpetrosal resection of primary MC meningiomas between 1984 and 1998. Of 146 patients who underwent transpetrosal removal of meningiomas, 7 were believed to have tumors originating in MC. All 7 patients presented with trigeminal dysfunction, facial pain, and/or headache. Complete tumor removal was achieved in 5 of the 7 patients. Facial hypoesthesia or anesthesia, paralysis of cranial nerve VI, and ophthalmoplegia were among the postoperative complications encountered. Meningiomas of MC represent treatable lesions whose diagnosis requires prompt imaging of patients with trigeminal dysfunction and symptoms of facial pain and headache.

  9. Cognitive dysfunction in spinocerebellar ataxias

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    Helio Afonso Ghizoni Teive

    Full Text Available Abstract Spinocerebellar ataxias (SCAs comprise a heterogeneous group of complex neurodegenerative diseases, characterized by the presence of progressive cerebellar ataxia, associated or otherwise with ophthalmoplegia, pyramidal signs, extrapyramidal features, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. Objective: To verify the presence of cognitive dysfunction among the main types of SCA described in the literature. Methods: the review was conducted using the search system of the PUBMED and OMIM databases. Results: Cognitive dysfunction occurs in a considerable proportion of SCA, particularly in SCA 3, which is the most frequent form of SCA worldwide. Dementia has been described in several other types of SCA such as SCA 2, SCA 17 and DRPLA. Mental retardation is a specific clinical feature of SCA 13. Conclusions: The role of the cerebellum in cognitive functions has been observed in different types of SCAs which can manifest varying degrees of cognitive dysfunction, dementia and mental retardation.

  10. Wernicke’s Encephalopathy Complicating Hyperemesis during Pregnancy

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    Mohamed Adnane Berdai


    Full Text Available Wernicke’s encephalopathy is caused by severe thiamine deficiency; it is mostly observed in alcoholic patients. We report the case of a 28-year-old woman, at 17 weeks of gestational age, with severe hyperemesis gravidarum. She presented with disturbance of consciousness, nystagmus, ophthalmoplegia, and ataxia. The resonance magnetic imagery showed bilaterally symmetrical hyperintensities of thalamus and periaqueductal area. The case was managed with very large doses of thiamine. The diagnosis of Wernicke’s encephalopathy was confirmed later by a low thiamine serum level. The patient was discharged home on day 46 with mild ataxia and persistent nystagmus. Wernicke’s encephalopathy is a rare complication of hyperemesis gravidarum. It should be diagnosed as early as possible to prevent long-term neurological sequela or death. Thiamine supplementation in pregnant women with prolonged vomiting should be initiated, especially before parenteral dextrose infusion. Early thiamine replacement will reduce maternal morbidity and fetal loss rate.

  11. Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos Syndrome. (United States)

    Kim, Jeong Gyun; Cho, Won-Sang; Kang, Hyun-Seung; Kim, Jeong Eun


    Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and chemosis in the right eye. Subsequently, seizure and cerebral infarction with micro-bleeds occurred. CCF was completely occluded with transvenous coil embolization without complications. Thereafter, the patient was completely recovered. Transvenous coil embolization can be a good treatment of choice for spontaneous CCF with type IV EDS. However, every caution should be kept during invasive procedure.

  12. Fundus Findings in Wernicke Encephalopathy

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    Tal Serlin


    Full Text Available Wernicke encephalopathy (WE is an acute neuropsychiatric syndrome resulting from thiamine (vitamin B1 deficiency, classically characterized by the triad of ophthalmoplegia, confusion, and ataxia. While commonly associated with chronic alcoholism, WE may also occur in the setting of poor nutrition or absorption. We present a 37-year-old woman who underwent laparoscopic sleeve gastrectomy and presented with visual disturbance with bilateral horizontal nystagmus, confusion, and postural imbalance. Fundus examination revealed bilateral optic disc edema with a retinal hemorrhage in the left eye. Metabolic workup demonstrated thiamine deficiency. Her symptoms resolved after thiamine treatment. This case raises the awareness of the possibility of posterior segment findings in WE, which are underreported in WE.

  13. Eye Involvement in Möbius Syndrome and its Treatment

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    Tuğba Güngör Kızıloğlu


    Full Text Available Möbius syndrome is a congenital disease which is characterized by horizontal ophthalmoplegia and facial paralysis. Four patients who were referred to our clinic and were diagnosed as Möbius syndrome were included in the study. Of these, two cases were followed up on a regular basis. In one of these two cases, bilateral medial rectus recession and inferior oblique tenotomy were performed. The other case underwent strabismus surgery followed by amniotic membrane transplantation. In this patient, lateral rectus muscle was determined as hypoplastic during the surgery and medial rectus muscle resection was performed. It was observed that satisfactory refractive and surgical outcomes could be achieved in patients with esotropia. It should be considered that structural muscle anomalies and/or horizontal gaze palsy may accompany this condition, therefore, cranial and orbital magnetic resonance imaging can be helpful in determining these anomalies before the surgery. (Turk J Oph thal mol 2011; 41: 417-22

  14. Giant Frontal Mucocele Occurring 32 Years after Frontal Bone Fracture: A Case Report

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    Yuuta Kamoshima


    Full Text Available Giant mucoceles of the frontal sinus are rare but their recognition is important in the differential diagnosis of proptosis and fronto-orbital lesions. The authors describe a patient with frontal giant mucocele with intracranial as well as orbit and ethmoid sinus involvement. Thirty-two years after a frontal sinus fracture, a 51-year-old female presented with headache, and left exophthalmos and ophthalmoplegia. Computed tomography and magnetic resonance imaging demonstrated a giant frontal sinus mucocele with extension into the left anterior cranial fossa. The mucocele was treated with a transcranial and endoscopic transnasal approach. The frontal sinus was then cranialized with reconstruction of the posterior wall, and finally a wide nasal drainage was performed. The clinical symptoms disappeared immediately after surgery.

  15. Sphenoid mucocele: an uncommon complication of a rare condition. (United States)

    Jolly, K; Krishnasamy, S; Buch, V H; Buch, H N; Mathews, J


    A 58-year-old white woman presented with sudden onset of diplopia, headache and vomiting with a history of tiredness and lethargy over the past four to six months. She had smooth, pale, hairless skin and on examination she was found to have left-sided third and sixth nerve palsy. Laboratory tests confirmed pan-anterior hypopituitarism. Computerized tomography scan of head and magnetic resonance imaging appearances were consistent with those of a sphenoid sinus mucocoele. Following adequate replacement with hydrocortisone and thyroxine she underwent sphenoid mucocoele drainage and endoscopic left sphenoethmoidectomy. Her symptoms were relieved over the next few days and she had a near-total recovery of ophthalmoplegia over the following three months. Pituitary function tests showed partial resolution of hypopituitarism with recovery of hypothalamic-pituitary-adrenal axis and hydrocortisone therapy was withdrawn, but she continued to require thyroxine.

  16. Magnetic resonance imaging in a case of Wernicke`s encephalopathy

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    Pagnan, L.; Pozzi-Mucelli, R.S. [Institute of Radiology, University of Trieste (Italy); Berlot, G. [Department of Anaesthesia and Intensive Care, University of Trieste, Cattinara Hospital, Trieste (Italy)


    Wernicke`s encephalopathy is an uncommon disorder caused by a thiamine deficiency which is clinically characterized by the triad of ophthalmoplegia, ataxia and disturbances of consciousness, each finding being variably present. The disease is caused by malnutrition or malabsorption, and is often associated with prolonged alcohol intake, neoplasm and extensive inflammatory processes of the digestive tract and parenteral hyperalimentation-induced gastrointestinal mucosal atrophy. Clinical diagnosis can be elusive and MRI may be the only imaging technique able to detect the cerebral lesions, whose type and distribution are characteristic of the Wernicke`s encephalopathy, whereas CT is positive only in exceptional cases. We report a case of a 56-year-old woman who developed a Wernicke`s encephalopathy 1 month after a colonic resection with signal intensity changes located in the mammillary bodies and in the medial thalamic nuclei. (orig.) With 3 figs., 23 refs.

  17. An overview of neurological and neuromuscular signs in mitochondrial diseases. (United States)

    Chaussenot, A; Paquis-Flucklinger, V


    Mitochondrial disorders have a broad clinical spectrum and are genetically heterogeneous, involving two genomes. These disorders may be develop at any age, with isolated or multiple system involvement, and any pattern of inheritance. Neurological involvement is the most frequent, and concerns muscular, peripheral and central nervous system. Among these diverse signs, some are suggestive of mitochondrial disease, such as progressive external ophthalmoplegia, exercise intolerance, psychomotor regression, stroke-like episodes, refractory epilepsy and Epilepsia Partialis Continua. Others are less specific and mitochondrial hypothesis may be evocated because of either association of different neuromuscular signs or a multisystemic involvement. This review describes the wealth of this neurological and neuromuscular symptomatology through different syndromes reported in the literature, according to preponderant signs and to modes of inheritance, as key elements to guide genetics testing.

  18. Miller-Fisher syndrome associated with chronic lymphocytic leukemia

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    Aki Zeynep


    Full Text Available Chronic lymphocytic leukemia (CLL is a frequent hematological malignancy, with meningeal or peripheral nerve infiltrations being the most commonly encountered neurological complications. In this report, we describe a CLL patient with Miller-Fisher syndrome (MFS who responded to immune modulation with plasmapheresis. A 47-year-old man diagnosed as B-cell CLL admitted with neutropenic fever. He complained of diplopia and numbness of both arms. Neurological examination revealed a bilateral external ophthalmoplegia, dysphagia, dysarthria, mild shoulder girdle muscle weakness and gait ataxia, accompanied by absent tendon reflexes. Nerve conduction studies were indicative of a predominantly axonal sensori-motor peripheral neuropathy. This association of CLL with MFS had not been previously reported in the literature.

  19. A case of overlapping Bickerstaff's brainstem encephalitis and Guillain-Barré syndrome

    Institute of Scientific and Technical Information of China (English)

    WANG De-sheng; TANG Ying; WANG Ye


    Objective: There is no report on Bickerstaff's brainstem encephalitis (BBE) patients in China. We here report the first case of BBE in China. Methods: Clinical features, results of electromyography, electroencephalography (EEG), magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) examination were studied to clarify the characteristics of this syndrome.Results: A 44-year-old man presented himself at our inpatient department with somnolence and dizziness as his initial symptoms.He developed multiple cranial nerves paralysis especially internal and external ophthalmoplegia, ataxia and tetraparesis within 1 week. His condition rapidly deteriorated, and he experienced coma. Electromyography showed indications of peripheral nerve dysfunction, electroencephalography revealed loss of basic rhythm, MRI demonstrated high-intensity abnormalities on T2-weighted images of medulla oblongata, and CSF albuminocytological dissociation was defined abnormally as high protein. Ten similar clinically; BBE and FS were proposed to be the variant of GBS.

  20. Choroid plexus failure in the Kearns-Sayre syndrome

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    Spector Reynold


    Full Text Available Abstract The Kearns-Sayre syndrome is a mitochondrial disorder (generally due to mitochondrial DNA deletions that causes ophthalmoplegia, retinopathy, ataxia and brain abnormalities such as leukoencephalopathy. In this syndrome, the choroid plexus epithelial cells, unlike brain cells, are greatly enlarged and granular, consistent with their inability to adequately transport folate from blood into cerebrospinal fluid (CSF, and homovanillic acid (a dopamine metabolite from CSF into blood. This inability to transport folates from blood into CSF (and brain adequately, causes cerebral folate deficiency that can be partially reversed by very high doses of reduced folates. The Kearns-Sayre syndrome is a disease that interferes with key choroid plexus functions and is a cause of generalized choroid plexus failure.

  1. Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias. (United States)

    Albuquerque, Marcus Vinicius Cristino de; Pedroso, José Luiz; Braga Neto, Pedro; Barsottini, Orlando Graziani Povoas


    The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.

  2. Wernicke's encephalopathy in a malnourished surgical patient: clinical features and magnetic resonance imaging. (United States)

    Nolli, M; Barbieri, A; Pinna, C; Pasetto, A; Nicosia, F


    We report a clinical and neuroradiological description of a severe case of Wernicke's encephalopathy in a surgical patient. After colonic surgery for neoplasm, he was treated for a long time with high glucose concentration total parenteral nutrition. In the early post-operative period, the patient showed severe encephalopathy with ataxia, ophthalmoplegia and consciousness disorders. We used magnetic resonance imaging (MRI) to confirm the clinical suspicion of Wernicke's encephalopathy. The radiological feature showed hyperintense lesions which were symmetrically distributed along the bulbo-pontine tegmentum, the tectum of the mid-brain, the periacqueductal grey substance, the hypothalamus and the medial periventricular parts of the thalamus. This progressed to typical Wernicke-Korsakoff syndrome with ataxia and memory and cognitive defects. Thiamine deficiency is a re-emerging problem in non-alcoholic patients and it may develop in surgical patients with risk factors such as malnutrition, prolonged vomiting and long-term high glucose concentration parenteral nutrition.

  3. Refractory hypotension in a patient with Wernicke's encephalopathy. (United States)

    Wang, Shi; Hou, Xiaojun; Ding, Suju; Guan, Yangtai; Zhen, Huimin; Tu, Laihui; Qiu, Yiqing


    A 57-year-old male patient with gastric carcinoma underwent radical distal gastrectomy type II + Braun anastomosis, and received total parenteral nutrition for 10 days after surgery, followed by small amounts of semi-liquid nutrition for 3 days and liquid nutrition for 2 days. The patient developed refractory hypotension for more than 1 week in the early course of disease, and on Day 15 after surgery presented with characteristic signs of Wernicke's encephalopathy, including diplopia and mental confusion. The hypotension did not improve despite appropriate fluid replacement soon after admission. Treatment with moderate dose of thiamine for 3 months partly relieved ophthalmoplegia and confusion, but not Korsakoff syndrome. This extraordinary presentation with refractory hypotension and the unusual course of the disease encouraged us to present this case.

  4. A Critical Case of Wernicke's Encephalopathy Induced by Hyperemesis Gravidarum

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    Byung Ju Kang


    Full Text Available Wernicke’s encephalopathy is a reversible but potentially critical disease caused by thiamine deficiency. Most patients complain of symptoms such as ophthalmoplegia, ataxia and confusion. Heavy alcohol drinking is commonly associated with the disease, but other clinical conditions also can provoke it. In pregnant women, hyperemesis gravidarum can lead to the depletion of body thiamine due to poor oral intake and a high metabolic demand. We report a case of Wernicke’s encephalopathy following hyperemesis gravidarum in a 36-year-old female at 20 weeks of pregnancy, who visited our hospital because of shock with vaginal bleeding. This case suggests that although the initial presentation may include atypical symptoms (e.g., shock or bleeding, Wernicke’s encephalopathy should be considered, and thiamine replacement should be performed in pregnant women with neurologic symptoms and poor oral intake.

  5. Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses

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    Stephanie S. L. Cheung


    Full Text Available A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM as the cause of her progressive muscle weakness. Although rare, external ophthalmoplegia has been described in the literature as a presenting symptom in SLONM. To elucidate the pathological mechanism for the patient’s diplopia, an MRI of the orbits was performed, which revealed findings consistent with SES. This case aims to highlight the importance of integrating clinical findings during the diagnostic process and serves as a reminder that diplopia can be a common symptom for an uncommon diagnosis.

  6. Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses. (United States)

    Cheung, Stephanie S L; Ghadiali, Larissa K; Brannagan Iii, Thomas H; Moonis, Gul; Faust, Phyllis L; Odel, Jeffrey G


    A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES) was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM) as the cause of her progressive muscle weakness. Although rare, external ophthalmoplegia has been described in the literature as a presenting symptom in SLONM. To elucidate the pathological mechanism for the patient's diplopia, an MRI of the orbits was performed, which revealed findings consistent with SES. This case aims to highlight the importance of integrating clinical findings during the diagnostic process and serves as a reminder that diplopia can be a common symptom for an uncommon diagnosis.

  7. Unilateral asterixis, thalamic astasia and vertical one and half syndrome in a unilateral posterior thalamo-subthalamic paramedian infarct: An interesting case report

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    Subasree Ramakrishnan


    Full Text Available A 42-year-old young lady presented with acute onset of dizziness, drooping of left eye with binocular diplopia and inability to walk unassisted. She had past history of uncontrolled diabetes mellitus and hypertension. On examination, she had left fascicular type of third nerve palsy, vertical one and half syndrome (VOHS, left internuclear ophthalmoplegia and skew deviation with ipsilesional hypertropia. She also had thalamic astasia and right unilateral asterixis. Her MRI revealed T2 and Flair hyper intense signal changes with restricted diffusion in the left thalamus, subthalamus and left midbrain. MR Angiography was normal. Thalamic-subthalamic paramedian territory infarct is relatively uncommon. It can present with oculomotor abnormalities including vertical one and half syndrome, skew deviation, thalamic astasia and asterixis. This case is reported for the rarity of the presenting clinical findings in unilateral thalamo-mesencephalic infarcts.

  8. The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene

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    E. Keilland


    Full Text Available m.3291T>C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS, however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (>7 years and management in a Caucasian family with MELAS due to the m.3291T>C mutation and review the literature on m.3291T>C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome, MNGIE (Mitochondrial neurogastrointestinal encephalopathy, KSS (Kearns-Sayre Syndrome and CPEO (Chronic progressive external ophthalmoplegia.

  9. A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child

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    Hsin-Ming Liu


    Full Text Available Mitochondrial DNA (mtDNA deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. Here, we report the case of a 10-year-old boy who presented with progressive deterioration of his clinical status (which included hypoglycemia, short stature, sensorineural hearing loss, retinitis pigmentosa, and chronic gastrointestinal dysmotility that progressed to acute deterioration with pancreatitis, Fanconi syndrome, lactic acidosis, and acute encephalopathy. Following treatment, the patient was stabilized and his neurological condition improved. Through a combination of histological examinations and biochemical and molecular analyses, mitochondrial disease was confirmed. A novel 3670-base pair deletion (deletion of mtDNA nt 7,628-11,297 was identified in the muscle tissue. A direct repeat of CTACT at the breakpoints was also detected.

  10. Spontaneous Cure of an Apoplectic Somatotropinoma in the Setting of Coronary Angiography

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    Armağan Tuğrul


    Full Text Available Pituitary apoplexy, which results from spontaneous hemorrhage into a pituitary adenoma, may be associated with a number of clinical settings including head trauma, hypertension, diabetes mellitus, acute hypovolemic shock, contrast media usage, and anticoagulation therapy. Clinical manifestations are due to the mechanical compression of the optic apparatus and cavernous sinus content, and pituitary insufficiency. Pituitary insufficiency does not recover in most of the cases. Ophthalmoplegia may resolve spontaneously over time or after surgery. Rarely, pituitary apoplexy may be followed by an endocrinologic cure. We present an apoplectic somatotropinoma in the setting of coronary angiography and unstable angina pectoris, which was spontaneously cured after pituitary apoplexy. This is one of few reports of pituitary apoplexy in association with contrast medium and anticoagulant-antiaggregant drug administration. Turk Jem 2008; 12:35-8

  11. Necrotizing Fasciitis of the Periorbital Region Complicated by Combined Central Retinal Artery Occlusion, Central Retinal Vein Occlusion, and Posterior Ciliary Occlusion. (United States)

    Sultan, Harris; Malik, Amina; Li, Helen K; Chévez-Barrios, Patricia; Lee, Andrew G

    A 50 year-old man on immunosuppressive agents presented with left eye vision loss, periorbital swelling, pain, and ophthalmoplegia. The patient was clinically found to have a central retinal artery and vein occlusion. A CT scan was performed which demonstrated intraorbital fat stranding, however the patient lacked sinus disease. The etiology of the orbital infection was held in question. The area was debrided in the operating room, and the specimen demonstrated group A streptococcal species consistent with necrotizing fasciitis. Periorbital necrotizing fasciitis should be suspected in patients with rapidly progressive orbital symptoms without sinus disease as lack of surgical intervention can result in poor outcomes. The unusual aspect to this case is the mechanism of vision loss, as the authors hypothesize that there was vascular infiltration of the infection resulting in the central retinal artery occlusion and central retinal vein occlusion which have not been previously reported secondary to necrotizing fasciitis of the orbit.

  12. Fundus artery occlusion caused by cosmetic facial injections

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    Chen Yanyun; Wang Wenying; Li Jipeng; Yu Yajie; Li Lin; Lu Ning


    Background With the increasing popularity of cosmetic facial filler injections in recent years,more and more associated complications have been reported.However,the causative surgical procedures and preventative measures have not been studied well up to now.The aim of this stady was to investigate the clinical characteristics and visual prognosis of fundus artery occlusion resulting from cosmetic facial filler injections.Methods Thirteen consecutive patients with fundus artery occlusion caused by facial filler injections were included.Main outcome measures were filler materials,injection sites,best-corrected visual acuity (BCVA),fundus fluorescein angiography,and associated ocular and systemic manifestations.Results Eleven patients had ophthalmic artery occlusion (OAO) and one patient each had central retinal artery occlusion (CRAO) and anterior ischemic optic neuropathy (AION).Injected materials included autologous fat (seven cases),hyaluronic acid (five cases),and bone collagen (one case).Injection sites were the frontal area (five cases),periocular area (two cases),temple area (two cases),and nose area and nasal area (4 cases).Injected autologous fat was associated with worse final BCVA than hyaluronic acid.The BCVA of seven patients with autologous fat injection in frontal area and temple area was no light perception.Most of the patients with OAO had ocular pain,headache,ptosis,ophthalmoplegia,and no improvement in final BCVA.Conclusions Cosmetic facial injections can cause fundus artery occlusion.Autologous fat injection tends to be associated with painful blindness,ptosis,ophthalmoplegia,and poor visual outcomes.The prognosis is much worse with autologous fat injection than hyaluronic acid injection.

  13. Diagnosis of mitochondrial diseases: Clinical and histological study of sixty patients with ragged red fibers

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    Challa Sundaram


    Full Text Available Background: Mitochondrial diseases are caused by mutations in mitochondrial or nuclear genes, or both and most patients do not present with easily recognizable disorders. The characteristic morphologic change in muscle biopsy, ragged-red fibers (RRFs provides an important clue to the diagnosis. Materials and Methods: Demographic data, presenting symptoms, neurological features, and investigative findings in 60 patients with ragged-red fibers (RRFs on muscle biopsy, seen between January 1990 and December 2002, were analyzed. The authors applied the modified respiratory chain (RC diagnostic criteria retrospectively to determine the number of cases fulfilling the diagnostic criteria of mitochondrial disease. Results: The most common clinical syndrome associated with RRFs on muscle biopsy was progressive external ophthalmoplegia (PEO with or without other signs, in 38 (63% patients. Twenty-six patients (43% had only external ophthalmoplegia, 5 (8% patients presented with encephalomyopathy. Specific syndromes were the presenting feature in 8 (13%, Kearns-Sayre syndrome (KSS in 4 and myoclonus epilepsy with ragged-red fibers (MERRF in 4. Myopathy was the presenting feature in 5 (8% and 4 presented with infantile myopathy. Of the 60 patients, 18 (30% had proximal muscle weakness. Two patients with KSS and one patient with myopathy had complete heart block necessitating pace making. When the modified RC diagnostic criteria were applied, only 26 (43% patients had one other major criterion in addition to RRFs for the diagnosis of mitochondrial diseases. The remaining 34 (57% patients with RRFs on muscle biopsy had only some clinical features suggestive of RC disorder but did not fulfill the clinical criteria (of the modified diagnostic criteria for the diagnosis of mitochondrial diseases. Conclusion: In patients with clinical features suggestive of RC disorder, demonstration of RRFs on muscle biopsy helps in confirming the diagnosis of mitochondrial

  14. Pituitary infiltration by non-Hodgkin's lymphoma: a case report

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    Aral Ferihan


    Full Text Available Abstract Introduction Pituitary adenomas represent the most frequently observed type of sellar masses; however, the presence of a rapidly growing sellar tumor, diabetes insipidus, ophthalmoplegia and headaches in an older patient strongly suggests metastasis to the pituitary. Since the anterior pituitary has a great reserve capacity, metastasis to the pituitary and pituitary involvement in lymphoma are usually asymptomatic. Whereas diabetes insipidus is the most frequent symptom, patients can present with headaches, ophthalmoplegia and bilateral hemianopsia. Case presentation A 70-year-old woman with no previous history of malignancy presented with headaches, right oculomotor nerve palsy and diabetes insipidus. As magnetic resonance imaging revealed a sellar mass involving the pituitary gland and infundibular stalk, which also extended into the right cavernous sinus and sphenoid sinus, the patient underwent an immediate transsphenoidal decompression surgery. Her prolactin was 102.4 ng/ml, whereas her gonadotropic hormone levels were low. A low level of urine osmolality after overnight water deprivation, along with normal plasma osmolality suggested diabetes insipidus. Histological examination revealed that the mass had been the infiltration of a high grade B-cell non-Hodgkin's lymphoma involving respiratory system epithelial cells. Paranasal sinus computed tomography scanning and magnetic resonance imaging of the thorax and abdomen were performed. Since magnetic resonance imaging did not reveal any abnormality, after paranasal sinus computed tomography was performed, we concluded that the primary lymphoma originated from the sphenoid sinus and infiltrated the pituitary. Chemotherapy and radiotherapy to the sellar area were planned, but the patient died and her family did not permit an autopsy. Conclusion Lymphoma infiltration to the pituitary is difficult to differentiate from pituitary adenoma, meningioma and other sellar lesions. To plan the

  15. Case of traumatic MLF syndrome with a CT demonstration of a small hemorrhagic legion

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    Ban, S.; Ogata, M.; Miyamoto, T.; Tabuchi, T. (Kobe Municipal Central Hospital (Japan))


    We report a case who developed internuclear ophthalmoplegia as a result of a closed head injury. A CT scan (Delta scan 50 FSII) demonstrated a small hemorrhage (9 x 12 mm. on actual measurement) in the dorsum of the upper pons. The patient is a 40-year-old male who fell backward while chasing a fly ball, striking the back of the head. He was rendered unconcious for some ten minutes. Upon admission, mild impairment of the adduction of both eye-balls was noted; 10 hours later this became more obvious, along with cerebellar ataxia, mild dysarthria, and paresthesia of the face. A CT scan obtained immediately after admission revealed an area of increased density compatible with a hemorrhage in the dorsum of the upper pons. A follow-up CT scan on the 12th hospital day revealed a complete resolution of the initially noted high-density in the upper pons, and 2 weeks following admission, the above-noted signs started to improve. Two and a half months following the injury he returned to work as a printer, although a detailed neuro-otological examination done 29 months after the injury still demonstrated evidence of bilateral internuclear ophthalmoplegia. To the author's knowledge, only 13 cases of traumatic 'MLF syndrome' have been reported so far, and our case is the first in which a CT scan indeed demonstrated the lesion. The details of the case are presented, along with the results of the neuro-otological evaluation.

  16. Aneurisma gigante do segmento intracavernoso da carótida interna associado a doença renal policística autossômica dominante: relato de caso Giant aneurysm of the intracavernous internal carotid artery associated with autosomal dominant polycystic kidney disease: case report

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    Keven F. Ponte


    Full Text Available Apresenta-se o caso de mulher de 60 anos com doença renal policística autossômica dominante (DRPAD que desenvolveu quadro de cefaléia e oftalmoplegia completa à direita. A TC levantou a hipótese de um aneurisma gigante do segmento intracavernoso da carótida interna direita, o que foi confirmado pela arteriografia. Realizou-se, então, tratamento endovascular por oclusão do vaso parental com molas destacáveis no segmento supraclinóideo. A paciente evoluiu com a interrupção da cefaléia e com redução parcial da ptose e da oftalmoplegia. Neste artigo, enfatiza-se a relação entre DRPAD e aneurismas intracranianos. Comenta-se a história natural dos aneurismas originados no segmento intracavernoso da artéria carótida interna e comparam-se as opções terapêuticas no manejo destas lesões.We report the case of a 60 years-old woman with autosomal dominant polycystic kidney disease (ADPKD that presented with headache and right complete ophthalmoplegia. The CT scan raised the possibility of a giant aneurysm of the right intracavernous internal carotid artery, confirmed by angiography. The patient underwent endovascular occlusion of parent vessel with detachable coils, then she presented interruption of headache and partial recovery of ptosis and ophthalmoplegia. We emphasize the relationship between ADPKD and intracranial aneurysms. We also discuss the natural history and compare the therapeutic options for the management of giant aneurysms of the cavernous portion of the carotid artery.

  17. Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

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    Ting Chen; Xiang-Hui Lu; Hui-Fang Wang; Rui Ban; Hua-Xu Liu; Qiang Shi; Qian Wang


    Background:Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies.Here,we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.Methods:A clinical study including family history,obstetric,pediatric,and development history was recorded.Clinical examinations including physical examination,electromyography (EMG),serum creatine kinase (CK),bone X-rays,and brain magnetic resonance imaging (MRI) were performed in this family.Open muscle biopsies were performed on the proband and his mother.To find the causative gene,the whole-exome sequencing was carried out.Results:Disease onset was from adolescence to adulthood,but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations.Clinical features were characterized as dysarthria,dysphagia,external ophthalmoplegia,limb weakness,hypophrenia,deafness,and impaired vision.However,not every patient manifested all symptoms.Serum CK was mildly elevated and EMG indicated a myopathic pattern.Brain MRI showed cerebellum and brain stem mildly atrophy.Rimmed vacuoles and inclusion bodies were observed in muscle biopsy.The whole-exome sequencing was performed,but the causative gene has not been found.Conclusions:We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria,dysphagia,external ophthalmoplegia,limb weakness,hypophrenia,deafness,and impaired vision,but the causative gene has not been found and needs further study.

  18. Clinical and neuroimaging study of spinocerebellar ataxia type 2

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    JIN Miao


    Full Text Available Background Spinocerebellar ataxia type 2 (SCA2 is an autosomal dominant genetic disease characterized by cerebellar ataxia, ophthalmoplegia, slow saccade, hyporeflexia, action tremor, cognitive decline and peripheral neuropathy. The brain MRI shows obvious atrophy of cerebellum and brainstem, indicating typical change of olivopontocerebellar atrophy. SCA2 is caused by an expanded cytosine-adenine-guanine (CAG trinucleotide repeat in the encoding region of ATXN2. The normal CAG repeats range from 13 to 31, and ataxic phenotype occurs when the repeats are more than 34. This study focused on the clinical and imaging features of 5 SCA2 families confirmed by genetic testing. The correlation between phenotype and genotype was analyzed. Methods The pathological CAG triplet repeat expansions of SCA1-3, 6, 7, 17 and dentatorubral-pallidoluysian atrophy (DRPLA genes were analyzed in the probands of 708 autosomal dominant SCA families and 119 sporadic SCA cases. The CAG repeat of ATXN2 gene was amplified by polymerase chain reaction (PCR and agarose gel electrophoresis. Fragment analysis based on CEQ8000 sequencer were applied to analyze expanded alleles. Results Expanded CAG repeats of ATXN2 gene were detected in 45 probands of SCA2 families. Most of the patients manifested with the typical clinical features of SCA2 such as cerebellar ataxia, ophthalmoplegia, slow saccade and hyporeflexia. Some of them also associated with action tremor. The brain MRI showed obvious atrophy of cerebellum and brainstem. The correlation between clinical features and CAG repeat of ATXN2 gene was studied carefully in 5 families. Conclusion Genetic analysis provides the basis for the diagnosis of SCA2. Clinical and neuroimaging features are very helpful in the diagnosis and differential diagnosis of this disease. For the identification of cases carrying intermediate allele, it is important to combine clinical, imaging features with dynamic mutation analysis in the affected

  19. Cerebellar and pontine tegmental hypermetabolism in miller-fisher syndrome

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    Kim, Yu Kyrong; Kim, Ji Soo; Lee, Won Woo; Kim, Sang Eun [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)


    Miller Fisher syndrome (MFS) has been considered as a variant of Guillain-Barre syndrome (GBS), a type of acute immune neuropathies involving peripheral nerve system. Unlike GBS, presence of cerebellar type ataxia and supranuclear ophthalmioplesia in MFS suggests additional involvement of the central nervous system. To determine involvement of the central nervous system in MFS, we investigated the cerebral metabolic abnormalities in patients with MFS using FDG PET. Nine patients who were diagnosed as MFS based on acute ophthalmoplegia, ataxia, and areflexia without other identifiable causes participated in this study. In six patients, serum antibodies possibly related with symptom of MFS (anti- GQ1b or anti-GM1) were detected at the time of the study. With the interval of 25 26 days (range: 3-83 days) from the symptom on set, brain FDG PET were underwent in patients and compared with those from healthy controls. In group analysis comparing with healthy controls, FDG PET of patients revealed increased metabolism in the bilateral cerebellar hemispheres and vermis, and the thalamus. In contrast, the occipital cortex showed decreased metabolism. Individual analyses disclosed hypermetabolism in the cerebellar vermis or hemispheres in 5, and in the pontine tegmentum in 2 of the 9 patients. We also found that the cerebellar vermian hypermetabolism was inversely correlated with the interval between from the symptom on set to PET study. Moreover, follow-up PET of a patient demonstrated that cerebellar hypermetabolism decreased markedly with an improvement of the ophthalmoplegia and ataxia. These findings indicate an involvement of the central nervous system in MFS and suggest an antibody-associated acute inflammatory process as a mechanism of this disorder.

  20. Clinical features of progressive supranuclear palsy in 105 Chinese patients

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    Jing Hou; Ruibiao Guo; Tong Chen; Xiaohong Zhang; Weiping Wu; Zhenfu Wang


    OBJECTIVE: To thoroughly investigate clinical characteristics of progressive supranuclear palsy (PSP) in a Chinese population.METHODS: Computer-based online searches through China National Knowledge Infrastructure and Weipu Periodical Database were performed to collect case reports of PSP published between 1980 and 2009. Clinical characteristics were analyzed.RESULTS: A total of 58 studies comprising 105 patients (76 males and 29 females) were included. All cases were sporadic and free of family history. The mean age at onset was 60.6 ± 9.1 years, and the mean course from onset of symptoms to diagnosis was 3.4 ± 2.4 years. The male-to-female ratio was approximately 3: 1. Onset was characterized by akinetic-rigid features and accounted for 34.3% of all cases, followed by early postural instability (25.5%), pseudobulbar palsy (9.8%), cognitive impairment (9.8%), and vertical supranuclear ophthalmoplegia (7.8%). With disease progression, vertical supranuclear ophthalmoplegia was reported in 95.1% of cases, followed by akinetic-rigid features (83.3%), pseudobulbar palsy (82.4%), axial dystonia (75.5%), cognitive impairment (72.5%), and early postural instability (69.6%). A total of 70.5% of patients exhibited abnormal electroencephalograms, and 21.4% exhibited mild abnormalities in cerebrospinal fluid. Brain CT scanning results of 37 patients showed 37.8% with midbrain and concurrent cerebral hemisphere atrophy, and 5.4% and 24.3% with midbrain and cerebral hemisphere atrophy, respectively. Brain MRI scanning results of 55 patients revealed a total of 16.4% patients with midbrain atrophy, 23.6% with midbrain and concurrent cerebral hemisphere atrophy, 32.7% with cerebral hemisphere atrophy, and 11% with brainstem atrophy. The percentage of midbrain atrophy revealed by MRI was greater than by CT. All 11 patients subjected to Mini-Mental State Examination scored < 23. A total of 10 patients underwent brain electrophysiological examination, and 80% presented with

  1. Association of POLG and Human Diseases%POLG基因突变在人类疾病中作用的研究

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    刘舒媛; 褚嘉祐


    DNA聚合酶γ(DNA polymerase γ,pol γ)由核基因组的POLG基因编码,该基因定位于染色体15q24-q26,有23个外显子.pol γ对于线粒体DNA的复制和修复起到了十分重要的作用.近年的研究表明POLG基因的突变是人类疾病的一个重要致病因素.迄今为止,已发现约150种POLG基因的致病突变和9种非致病性多态性与人类疾病相关,如进行性外眼肌麻痹(progressive external ophhalmo-plegia,PEO)、阿尔佩尔综合征(Alpers syndrome)、感觉性共济失调、神经病变性运动性构音障碍及外眼肌麻痹(sensory ataxia neuropathy dysarthria and ophthalmoplegia,SANDO)、帕金森综合征(Parkinson's djsease,PD)和男性不育(male infertility)等等.近年来转基因小鼠模型的建立以及pol γ生化性质方面的研究使人们对POLG基因突变与人类疾病的发病机制的相关性有了进一步的认识.本文对近年来POLG基因突变与人类疾病相天性的研究进展作一综述.%The replication and maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase γ ( pol -γ), which is encoded by the POLG gene mapped onto 15q24-q26 and containing 23 exons. It has become clear that mutations of POLG are a major cause of human diseases. To date about 150 diseasesrelated mutations and 9 nonsynonymous polymorphisms in POLG have been found to be associated with autosomal dominant and recessive progressive external ophthalmoplegia (PEO), Alpers syndrome, sensory ataxia neuropathy, dysarthria and ophthalmoparesis (SANDO), Parkinson disease (PD) , and male infertility. Transgenic mice and biochemical studies of recombinant mutated pol y proteins are helping to unravel mechanisms of pathogenesis, and patterns are beginning to emerage relating genotype to phenotype. The association between POLG and human diseases will be discussed in this review.

  2. 进行性核上性麻痹12例临床及核磁共振分析%Clinical and MRI analysis of progressive supranuclear palsy:a report of 12 cases

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    戴俊杰; 丁美萍


    目的:探讨进行性核上性麻痹(PSP)的临床和影像学特点。方法回顾性分析12例临床诊断的PSP患者的临床和影像学资料。结果12例患者主要症状为运动迟缓、姿势不稳、假性球麻痹和垂直性眼肌麻痹,部分患者有认知功能障碍、小便障碍等。多数患者首发症状为运动迟缓。患者头颅MRI均可见不同程度脑萎缩,以额叶及中脑为著,部分患者出现“蜂鸟征”和“喇叭花征”改变。结论 PSP患者以运动迟缓为最常见首发症状,姿势不稳、易跌倒为常见的临床表现,垂直性眼肌麻痹最具诊断意义,头颅MRI检查有助于PSP诊断。%Objective To investigate the clinical and imaging features of progressive supranuclear paralysis (PSP). Methods 12 cases of PSP patients diagnosed clinical y were retrospectively analyzed based on clinical and imaging data. Re-sults The main symptoms of 12 PSP patients were bradykinesia, postural instability, pseudobulbar palsy and vertical ophthal-moplegia performance. Partial patients showed cognitive dysfunction and urinary disorders. The initial symptom of most patients was bradykinesia. Different levels of brain atrophy were observed in the cranial MRI of 12 patients, especial y in the frontal lobe and midbrain. The change of "hummingbird sign" and "morning glory sign"was observed in some of patients. Conclusion Bradykinesia was the most common initial symptom for PSP patients. Postural instability and easy to fal were the basic clinical manifestations. Vertical ophthalmoplegia indicated the greatest value of diagnosis Brain MRI assissed the PSP diagnosis.

  3. Recovery of opthalmoplegia associated with cavernous sinus dural arteriovenous fistulas after transvenous cavernous sinus packing

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    Lv Xianli; Jiang Chuhan; Li Youxiang; Yang Xinjian [Beijing Neurosurgical institute, Beijing Tiantan Hospital, Capital Medical University, 6, Tiantan Xili, Chongwen, Beijing (China); Wu Zhongxue, E-mail: [Beijing Neurosurgical institute, Beijing Tiantan Hospital, Capital Medical University, 6, Tiantan Xili, Chongwen, Beijing (China)


    Background: We report the recovery of ophthalmoplegia in 11 patients with cavernous sinus dural arteriovenous fistula (CSDAVF) after sinus packing at follow-up. Methods: Of 18 patients with CSDAVF treated with transvenous cavernous sinus packing between August 2002 and December 2007 at Beijing Tiantan Hospital, there were 9 patients with initial CNIII or CNVI dysfunction and 2 patients with CNVI dysfunction immediately after cavernous sinus packing selected and reevaluated. Results: Of 11 patients with CNIII or CNVI palsy, recovery was complete in 10. In 1 patient, complete CNVI palsy was unchanged because the CSDAVF was not cured. There were 6 men and 5 women with a mean age of 52.9 years. In 5 patients, CNVI palsy was associated with chemosis, proptosis and pulsatile tinnitus. Timing of treatment after onset of symptoms was from 4 to 35 days in 9 patients. All CSDAVFs were Barrow type D. Mean follow-up after treatment was 17.7 months (range, 2-54 months). Conclusion: CSDAVF-induced CNIII or CNVI palsies can be cured after cavernous sinus packing transvenously in most patients.

  4. Extra-ocular muscle MRI in genetically-defined mitochondrial disease

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    Pitceathly, Robert D.S.; Morrow, Jasper M.; Hanna, Michael G. [UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, MRC Centre for Neuromuscular Diseases, London (United Kingdom); Sinclair, Christopher D.J.; Yousry, Tarek A.; Thornton, John S. [UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, MRC Centre for Neuromuscular Diseases, London (United Kingdom); UCL Institute of Neurology, Neuroradiological Academic Unit, Department of Brain Repair and Rehabilitation, London (United Kingdom); Woodward, Cathy; Sweeney, Mary G. [National Hospital for Neurology and Neurosurgery, Neurogenetics Unit, London (United Kingdom); Rahman, Shamima [UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, MRC Centre for Neuromuscular Diseases, London (United Kingdom); UCL Institute of Child Health, Mitochondrial Research Group, Clinical and Molecular Genetics Unit, London (United Kingdom); Plant, Gordon T.; Ali, Nadeem [National Hospital for Neurology and Neurosurgery, Department of Neuro-ophthalmology, London (United Kingdom); Moorfields Eye Hospital, Department of Neuro-ophthalmology, London (United Kingdom); Bremner, Fion [National Hospital for Neurology and Neurosurgery, Department of Neuro-ophthalmology, London (United Kingdom); Davagnanam, Indran [National Hospital for Neurology and Neurosurgery, The Lysholm Department of Neuroradiology, London (United Kingdom)


    Conventional and quantitative MRI was performed in patients with chronic progressive external ophthalmoplegia (CPEO), a common manifestation of mitochondrial disease, to characterise MRI findings in the extra-ocular muscles (EOMs) and investigate whether quantitative MRI provides clinically relevant measures of disease. Patients with CPEO due to single mitochondrial DNA deletions were compared with controls. Range of eye movement (ROEM) measurements, peri-orbital 3 T MRI T1-weighted (T1w) and short-tau-inversion-recovery (STIR) images, and T2 relaxation time maps were obtained. Blinded observers graded muscle atrophy and T1w/STIR hyperintensity. Cross-sectional areas and EOM mean T2s were recorded and correlated with clinical parameters. Nine patients and nine healthy controls were examined. Patients had reduced ROEM (patients 13.3 , controls 49.3 , p < 0.001), greater mean atrophy score and increased T1w hyperintensities. EOM mean cross-sectional area was 43 % of controls and mean T2s were prolonged (patients 75.6 ± 7.0 ms, controls 55.2 ± 4.1 ms, p < 0.001). ROEM correlated negatively with EOM T2 (rho = -0.89, p < 0.01), whilst cross-sectional area failed to correlate with any clinical measures. MRI demonstrates EOM atrophy, characteristic signal changes and prolonged T2 in CPEO. Correlation between elevated EOM T2 and ROEM impairment represents a potential measure of disease severity that warrants further evaluation. (orig.)

  5. Third cranial nerve palsy (ptosis, diplopia accompanied by orbital swelling: case report of unusual clinical presentation of giant cell arteritis associated with polymyalgia rheumatica

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    Prassede Bravi


    Full Text Available IntroductionGiant cell arteritis (GCA is the most common systemic vasculitis in older individuals, characterized by granulomatosus inflammation of the wall of large and medium-sized arteries. The wide spectrum of arterial sites involved leads to ischemia of different organs resulting in a wide range of clinical signs and symptoms. Temporal artery is commonly involved (temporal arteritis. Unusual patterns of presentation, such as extraocular motility disorders and orbital swelling, may be early and transient manifestations of GCA and precede the permanent visual loss due to ischemic optic neuropathy.Case reportWe describe a patient with uncommon manifestations of GCA consisting of transient recurrent diplopia, ptosis, orbital swelling together with more typical clinical features of the disease such as musculoskeletal manifestations (polymyalgia rheumatica and facial pain: all signs and symptoms promptly resolved under corticosteroid therapy without relapse.Conclusions A high level of suspicion of GCA in individuals over the age of 50 years is needed to prevent the development of severe complications. Clinicians should be aware of uncommon manifestations of the disease such as head–neck swelling and ophthalmoplegia: management guidelines have stated that prompt administration of adequate dose of corticosteroids as soon as ocular manifestations of GCA are noted may almost totally prevent blindness.

  6. One-and-a-half syndrome in pontine infarcts: MRI correlates

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    Seze, J. de; Lucas, C.; Vermersch, P.; Leys, D. [Department of Neurology, Stroke Unit, Hopital R. Salengro, CHRU de Lille (France); Leclerc, X.; Sahli, A. [Department of Neuroradiology, Lille University Hospital, Lille (France)


    The one-and-a-half syndrome is characterised by a lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other. It is due to a unilateral lesion of the dorsal pontine tegmentum, involving the ipsilateral paramedian pontine reticular formation, internuclear fibres of the ipsilateral medical longitudinal fasciculus and, usually, the abducens nucleus. The main causes of this rare syndrome are stroke and multiple sclerosis. Few cases have been reported since the introduction of MRI. Our aim was to examine clinicoradiological correlations in six patients with a one-and-a-half syndrome due to a stroke. Ophthalmological symptoms were diplopia, oscillopsia or blurred vision. Four patients had an associated facial nerve palsy, three a hemiparesis and one a unilateral hemihypoaesthesia. MRI revealed an infarct in the pons in all patients. The cause of the infarct was a basilar artery dissection in one patient, bilateral vertebral artery dissection in a second and unknown in the other four. All patients recovered within 2 days to 8 weeks. This study showed a good correlation between the site of the lesion (superior, inferior or extensive pontine ischaemia) and clinical deficits. (orig.)

  7. MELAS型线粒体脑肌病1例

    Institute of Scientific and Technical Information of China (English)

    陈晓燕; 李啸; 戢福云


    @@ 线粒体脑肌病(mitochondrial encephalomyopathy, ME)是mtDNA发生突变导致线粒体结构和功能障碍、ATP合成不足所致的多系统疾病,多数为母系遗传[1].其临床表现取决于正常mtDNA和突变mtDNA的比例,mtDNA突变的数目越多,临床症状越重.可分为不同的临床综合征,部分类型表现可以重叠.常见有: ①线粒体脑肌病伴高乳酸血症和卒中样发作综合征(mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes,MELAS), ②慢性进行性眼外肌瘫痪(chronic progressive external ophthalmoplegia, CPEO), ③Kearns-Sayre综合征(Kss), ④肌阵挛性癫痫伴肌肉破碎红纤维综合征(myoclonus epilepsy with ragged-red fiber,MERRF).新桥医院收治1例MELAS型线粒体脑肌病,报告如下.

  8. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease (United States)

    Rajakulendran, Sanjeev; Pitceathly, Robert D. S.; Taanman, Jan-Willem; Costello, Harry; Sweeney, Mary G.; Woodward, Cathy E.; Jaunmuktane, Zane; Holton, Janice L.; Jacques, Thomas S.; Harding, Brian N.; Fratter, Carl; Hanna, Michael G.; Rahman, Shamima


    Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological and mitochondrial genetic features of four unrelated patients with homozygous A467T mutations. One patient presented with the severe and lethal Alpers-Huttenlocher syndrome, which was confirmed on neuropathology, and was found to have a depletion of mitochondrial DNA (mtDNA). Of the remaining three patients, one presented with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), one with a phenotype in the Myoclonic Epilepsy, Myopathy and Sensory Ataxia (MEMSA) spectrum and one with Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO). All three had secondary accumulation of multiple mtDNA deletions. Complete sequence analysis of muscle mtDNA using the MitoChip resequencing chip in all four cases demonstrated significant variation in mtDNA, including a pathogenic MT-ND5 mutation in one patient. These data highlight the variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation, which may result from factors such as the mtDNA genetic background, nuclear genetic modifiers and environmental stressors. PMID:26735972

  9. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

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    Sanjeev Rajakulendran

    Full Text Available Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological and mitochondrial genetic features of four unrelated patients with homozygous A467T mutations. One patient presented with the severe and lethal Alpers-Huttenlocher syndrome, which was confirmed on neuropathology, and was found to have a depletion of mitochondrial DNA (mtDNA. Of the remaining three patients, one presented with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS, one with a phenotype in the Myoclonic Epilepsy, Myopathy and Sensory Ataxia (MEMSA spectrum and one with Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO. All three had secondary accumulation of multiple mtDNA deletions. Complete sequence analysis of muscle mtDNA using the MitoChip resequencing chip in all four cases demonstrated significant variation in mtDNA, including a pathogenic MT-ND5 mutation in one patient. These data highlight the variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation, which may result from factors such as the mtDNA genetic background, nuclear genetic modifiers and environmental stressors.


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    Full Text Available OBJECTIVE : Snake bite is an environmental hazard associated with significant ocular morbidity and some have sight threatening complications . Objective of this study was to determine the ocular manifestations and long standing visual impairment fo llowing snake bite and to acquaint the ophthalmologists and related health professionals about the sight threatening ocular complications related to snake bite . METHODS : Prospective data was collected from the Dept . of Internal Medicine , Burdwan Medical Co llege , a rural based tertiary care hospital in eastern India . All snake bite patients admitted in the Department of Internal Medicine were examined and all patients with ocular manifestations were included in the study . RESULTS : Out of 245 cases of snake b ite , 51 ( 27 . 27% cases of venomous snake bite with ocular findings were included in this study . Thirty three ( 64 . 71% out of 51 were vasculotoxic and 18 ( 35 . 29% were neurotoxic in nature . Commonest ocular manifestation of neurotoxic bite was ptosis , followed by diplopia , ophthalmoplegia and optic neuritis . In vasculotoxic snake bites retinal and vitreous hemorrhage ( 36 . 36% was most common followed by subconjunctival hemorrhage and chemosis ( 27 . 28% , lid oedema ( 18 . 18% , hyphaema ( 12 . 12% and anterior uveitis ( 6 . 06% . Causes of long standing visual impairment were retinal hemorrhage in one patient and vitreous hemorrhage in two patients . CONCLUSIONS : Ocular morbidity following snake bite were more common among young males . Majority of long standing vis ual impairment were associated with vasculotoxic snake bite and required long term follow - up .

  11. Wernekink Commissure Syndrome Secondary to Bilateral Caudal Paramedian Midbrain Infarction Presenting with a Unique “Heart or V” Appearance Sign: Case Report and Review of the Literature

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    Chenguang Zhou


    Full Text Available Wernekink commissure syndrome secondary to caudal paramedian midbrain infarction (CPMI is a rare midbrain syndrome involving the decussation of the superior cerebellar peduncle in the caudal paramedian midbrain tegmentum. The central characteristics are constant bilateral cerebellar dysfunction, variable eye movement disorders, and rare delayed palatal myoclonus. Following is a description of the case of a 60-year-old man who presented with dizziness, slurred speech, and difficulty walking. Neurological examination revealed bilateral cerebellar dysfunction and bilateral internuclear ophthalmoplegia (bilateral INO. Serial magnetic resonance imaging (MRI revealed a lesion in the caudal paramedian midbrain with a “heart-shaped” sign on fluid-attenuation inversion recovery images and a “V-shaped” appearance on diffusion-weighted imaging (DWI. An acute CPMI with a “heart or V” appearance sign was diagnosed. Upon follow-up evaluation 3 months later, a palatal tremor accompanied by involuntary head tremor was discovered. Hypertrophy and increased signal of the bilateral inferior olivary nucleus, compatible with hypertropic olivary degeneration (HOD were revealed during a subsequent MRI study.

  12. Oftalmoplegia internuclear em paciente com mielose funicular Internuclear ophtálmoplegia in a patient with subacute combined degeneration of the spinal cord

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    J. Lamartine de Assis


    Full Text Available É relatado um caso de oftalmoplegia internuclear, tipo posterior, com manifestações oculares bilaterais e assimétricas em paciente com mielose funicular. O diagnóstico da natureza da moléstia foi comprovado pela prova de absorção da vitamina B12 radioativa marcada com 57Co (método de Schilling. Foram realizados três exames electromiográficos do músculo reto mediai mais afetado (esquerdo, com intervalos de 45 a 90 dias, não tendo havido modificação dos traçados. O electromiograma nada mostrou de específico e permitiu excluir lesão neurogênica (paresia ou paralisia do 3.° nervo e muscular propriamente dita (miopatia.Acase of posterior internuclear ophthalmoplegia with bilateral and asymetric manifestations in a patient with subacute combined degeneration of the spinal cord is reported. The diagnosis of the spinal cord disease was made in clinical findings and proved by absorption of radioactive cyanocobalamin through the Schilling's urinary excretion test. The electromyogram of the left medial rectus muscle showed no signs of paresis such as are found in lower motor disease or myopathies.

  13. Preseptal and orbital cellulitis

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    Emine Akçay


    Full Text Available Preseptal cellulitis (PC is defined as an inflammation of the eyelid and surrounding skin, whereas orbital cellulitis (OC is an inflammation of the posterior septum of the eyelid affecting the orbit and its contents. Periorbital tissues may become infected as a result of trauma (including insect bites or primary bacteremia. Orbital cellulitis generally occurs as a complication of sinusitis. The most commonly isolated organisms are Staphylococcus aureus, Streptococcus pneumoniae, S. epidermidis, Haempphilus influenzae, Moraxella catarrhalis and S. pyogenes. The method for the diagnosis of OS and PS is computed tomography. Using effective antibiotics is a mainstay for the treatment of PC and OC. There is an agreement that surgical drainage should be performed in cases of complete ophthalmoplegia or significant visual impairment or large abscesses formation. This infections are also at a greater risk of acute visual loss, cavernous sinus thrombosis, meningitis, cerebritis, endophthalmitis, and brain abscess in children. Early diagnosis and appropriate treatment are crucial to control the infection. Diagnosis, treatment, management and complications of PC and OC are summarized in this manuscript. J MicrobiolInfect Dis 2014; 4(3: 123-127

  14. Ocular microtremor in oculomotor palsy. (United States)

    Bolger, C; Bojanic, S; Sheahan, N F; Coakley, D; Malone, J F


    Ocular microtremor (OMT) is a high frequency tremor of the eyes present in all individuals. Recent reports suggest that OMT may be a useful indicator of brainstem function. However, the actual origin of ocular microtremor remains controversial. This study aims to provide evidence that OMT has a neurogenic origin. The OMT activity of five subjects with unilateral oculomotor nerve palsy and one subject with complete unilateral internal and external ophthalmoplegia were recorded from both eyes of each subject using the piezoelectric strain gauge technique, with the normal eye acting as a control. Five parameters of OMT activity were studied in each subject: the peak count, the power of the high frequency peak, the percentage power between 60 and 100 Hz, the percentage power between 70 and 80 Hz, and the 10 dB cut-off point. In the five subjects with oculomotor nerve palsy, the mean peak count in the normal eye was 88.4 Hz (SD+/-16.9) and in the affected eye was 59 Hz (SD+/-8.6), P < 0.0096. There was also a fall in the peak power, the power between 60 and 100 Hz, and the power between 70 and 80 Hz. In subject six, who had complete opthalmoplegia, there was no evidence of OMT activity in the denervated eye. These results suggest that innervation of the extraocular muscles is necessary for normal OMT activity, and OMT therefore has a neurogenic origin.

  15. Recurrent contrast-induced encephalopathy following coronary angiography. (United States)

    Spina, Roberto; Simon, Neil; Markus, Romesh; Muller, David W M; Kathir, Krishna


    Contrast-induced encephalopathy (CIE) is an acute and reversible neurological disturbance associated with the intra-arterial administration of iodinated contrast medium during cardiac catheterisation. It may manifest with encephalopathy, motor and sensory disturbances; vision disturbances, including cortical blindness, ophthalmoplegia, aphasia; and seizures. Disruption of the blood-brain barrier and direct neuronal toxicity are believed to be implicated in the pathophysiology of the syndrome. Symptoms appear soon after contrast administration and resolve completely within 24-48 h. Risk factors may include hypertension, diabetes mellitus, renal impairment, the administration of large volumes of iodinated contrast, percutaneous coronary intervention or selective angiography of internal mammary grafts and previous adverse reaction to iodinated contrast. On cerebral imaging, CIE may mimic subarachnoid haemorrhage or cerebral ischaemia, but imaging may be normal. Prognosis is excellent with supportive management alone. CIE may recur, but re-challenge with iodinated contrast without adverse effects has been documented. CIE is a diagnosis of exclusion and is an important clinical entity to consider in the differential diagnosis of stroke following cardiac catheterisation. Physicians should be aware of it and consider it prior to initiating thrombolysis.

  16. Carotid cavernous fistula: Ophthalmological implications

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    Chaudhry Imtiaz


    Full Text Available Carotid cavernous fistula (CCF is an abnormal communication between the cavernous sinus and the carotid arterial system. A CCF can be due to a direct connection between the cavernous segment of the internal carotid artery and the cavernous sinus, or a communication between the cavernous sinus, and one or more meningeal branches of the internal carotid artery, external carotid artery or both. These fistulas may be divided into spontaneous or traumatic in relation to cause and direct or dural in relation to angiographic findings. The dural fistulas usually have low rates of arterial blood flow and may be difficult to diagnose without angiography. Patients with CCF may initially present to an ophthalmologist with decreased vision, conjunctival chemosis, external ophthalmoplegia and proptosis. Patients with CCF may have predisposing causes, which need to be elicited. Radiological features may be helpful in confirming the diagnosis and determining possible intervention. Patients with any associated visual impairment or ocular conditions, such as glaucoma, need to be identified and treated. Based on patient′s signs and symptoms, timely intervention is mandatory to prevent morbidity or mortality. The conventional treatments include carotid ligation and embolization, with minimal significant morbidity or mortality. Ophthalmologist may be the first physician to encounter a patient with clinical manifestations of CCF, and this review article should help in understanding the clinical features of CCF, current diagnostic approach, usefulness of the available imaging modalities, possible modes of treatment and expected outcome.

  17. Pharyngeal-cervical-brachial variant of Guillain-Barre syndrome. (United States)

    Wakerley, Benjamin R; Yuki, Nobuhiro


    The pharyngeal-cervical-brachial (PCB) variant of Guillain-Barré syndrome is defined by rapidly progressive oropharyngeal and cervicobrachial weakness associated with areflexia in the upper limbs. Serial nerve conduction studies suggest that PCB represents a localised subtype of Guillain-Barré syndrome characterised by axonal rather than demyelinating neuropathy. Many neurologists are unfamiliar with PCB, which is often misdiagnosed as brainstem stroke, myasthenia gravis or botulism. The presence of additional ophthalmoplegia and ataxia indicates overlap with Fisher syndrome. Half of patients with PCB carry IgG anti-GT1a antibodies which often cross-react with GQ1b, whereas most patients with Fisher syndrome carry IgG anti-GQ1b antibodies which always cross-react with GT1a. Significant overlap between the clinical and serological profiles of these patients supports the view that PCB and Fisher syndrome form a continuous spectrum. In this review, we highlight the clinical features of PCB and outline new diagnostic criteria.

  18. Neurologic deterioration with progressive CT changes in a child with Kearns-Shy syndrome

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    Yoda, Satoru; Kitahara, Fuminori; Akabane, Taro (Shinshu Univ., Matsumoto, Nagano (Japan). Faculty of Medicine); Terauchi, Akiko


    A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadriceps biopsy specimens showed atrophy of type II fibers and ''ragged-red fibers.'' On electron microscopy these muscle cells were seen to contain an increased amount of glycogen particles and abnormal mitochondria were increased in number and size. It is of interest that abrupt deterioration of neurological findings such as seizures, mental subnormality, speech disturbance and deafness was present in our case. Computed tomographic scanning showed progressive changes of cerebral atrophy, low density of cerebral white matter and basal ganglia calcification, which were well associated with the clinical deterioration. A review of the literature also indicated that some patients with this syndrome showed abrupt neurological deterioration in childhood. Involvement of the central nervous system in this syndrome has to be considered as the cause of sudden deterioration and death in childhood.

  19. Acute cerebellar ataxia in a young woman: Wernicke’s encephalopathy?

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    S. G. Dolgova


    Full Text Available Wernicke’s encephalopathy (WE is a rare but severe neurological syndrome caused by thiamine deficiency. According to the data of autopsy studies, the prevalence of WE in the general population varies from 0.4 to 2.8 per 100,000 population; the disease occurs many times more frequently in alcohol abusers than in people who lead a healthy lifestyle. These studies also showed that most cases of WE were diagnosed postmortem; less than 20% of patients with the disease were diagnosed in life. A healthy adult requires 1–2 mg of thiamine daily, depending on the carbohydrate intake. Body’s reserves of thiamine are only 30–50 mg so any malnutrition condition lasting more than 3–4 weeks can cause complete depletion of the vitamin’s stores. Classically, WE is characterized by the sudden onset of a typical triad of symptoms: an altered mental state, ophthalmoplegia, and ataxia. However, this clinical picture can be seen in only one-third of patients. The onset of the disease may sometimes look completely different: heart failure with hypotension and tachycardia; gastrointestinal symptoms (abdominal pain and nausea; hypothermia due to the involvement of the posterior hypothalamus; deafness affecting the thalamus; epileptic seizures in case of enhanced activity of the glutamatergic system.The paper describes a clinical case of acute cerebellar ataxia that is apparently caused by Wernicke’s encephalopathy in a young woman.

  20. Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies

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    Liu Yuhe; Xue Junfang; Zhao Danhua; Chen Li; Yuan Yun; Wang Zhaoxia


    Background Hearing impairment has been reported to be common in patients with mitochondrial disorders,a group of diseases characterized by pleiomorphic clinical manifestations due to defects in oxidative phosphorylation of mitochondria.This study aimed to investigate the audiological characteristics in a large cohort of patients with mitochondrial disease.Methods Comprehensive audiological evaluations,including pure tone audiometry,tympanometry,speech audiometry,otoacoustic emissions,electrocochleography and auditory brainstem evoked potentials,were performed in 73 Chinese patients with mitochondrial encephalomyopathy and with confirmed mitochondrial DNA (mtDNA) defects.Results Among the patients,71% had hearing impairment.However,the incidence rate and severity of hearing impairment were much less in the chronic progressive external ophthalmoplegia (CPEO) subtype than in the mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes (MELAS),myoclonic epilepsy with ragged red fibers (MERRF) and Kearns-Sayre syndrome (KSS) subtypes.While most of our patients had a predominantly cochlea origin for the hearing deficit,five patients had an auditory neuropathy spectrum disorder and three patients had impairment of both cochlea and auditory codex.Conclusions Various portions of the auditory system could be involved in patients with mitochondrial diseases,including cochlea,auditory nerve,auditory pathway and cortex.Hearing loss was more associated with multisystem involvement.Genotype,mutant load of mtDNA and other unknown factors could contribute to heterogeneity of hearing impairment in mitochondrial disease.

  1. Infiltrative mass of the skull base and nasopharynx: A diagnostic conundrum

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    Manish M. George


    Full Text Available Inflammatory skull base masses are enigmatic and often behaviourally unpredictable. We present a case of idiopathic hypertrophic pachymeningitis (IHP forming a central skull base mass to illustrate the process required when one investigates such skull base lesions. This is the first description of mass forming or tumefactive IHP extending into the nasopharynx. A 32-year old woman presented with frontal headaches and nasal discharge. She then deteriorated and was admitted with worsening headaches, serosanguinous nasal discharge and bilateral ophthalmoplegia. Multimodality imaging confirmed a destructive central skull base soft tissue mass involving the posterior clivus, floor of sphenoid sinus, nasopharynx and extending into both cavernous sinuses. Unfortunately, the patient continued to deteriorate despite treatment with broad-spectrum antibiotics. Cerebrospinal fluid, blood tests and transnasal biopsies for histology and microbiology did not reveal a diagnosis. Further neuroimaging revealed extension of the mass. Early corticosteroid treatment demonstrated radical improvement although an initial reducing regime resulted in significant rebound deterioration. She was stable on discharge with slowly reducing low dose oral prednisolone and azathioprine. We discuss the complexity of this case paying special attention to the process followed in order to arrive at a diagnosis of idiopathic hypertrophic pachymeningitis based on both the clinical progression and the detailed analysis of serial skull base imaging. Knowledge of the potential underlying aetiologies, characteristic radiological features, common pathogens and the impact on blood serology can narrow the potential differentials and may avoid the morbidity associated with extensive resective procedures.

  2. 注射A型肉毒素除皱致眼肌麻痹

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    The virulence of botox( BTX) is extremely strong,it is A kind of strong muscle relaxation agent,besides it is widely used in clini-cal,the type A botulinum toxin injection was also anti-wrinkle,beauty salon for injection drug diffusion due to certain operating factors appear some complications,ophthalmoplegia is one of them. We report 5 cases,superior rectus and outside straight myoparalysis,respectively,through the observa-tion and return all drug treatment.%肉毒素( BTX)的毒力极强,它是一种较强的肌肉松驰剂,除广泛用于临床之外,其中A型肉毒素注射液也被美容院用于注射除皱,由于某些操作因素造成药物扩散出现一些并发症,眼肌麻痹就其中之一。本文报告5例,分别为上直肌及外直肌麻痹,经过观察及药物治疗全部恢复。

  3. Pituitary apoplexy causing spontaneous remission of acromegaly following long-acting octreotide therapy: a rare drug side effect or just a coincidence (United States)

    Kumar, Sunil; Sharma, Shruti


    Pituitary apoplexy is characterized by abrupt onset of haemorrhage or non-haemorrhagic infarction of a pituitary adenoma. The clinical features include acute onset severe headache, visual field defects, meningeal irritation, ophthalmoplegia and hypopituitarism. The pituitary apoplexy may be clinically silent in ∼25% of patients. We report a case of acromegaly due to pituitary macroadenoma. The patient was started on long-acting octreotide therapy. On 3-month follow-up, the patient showed clinical and biochemical remission and the magnetic resonance imaging (MRI) of the brain showed subclinical haemorrhage and resolution of tumour. The octreotide therapy was stopped. On 6-month follow-up, the patient was still in remission and the MRI of brain revealed non-enhancing mixed intensities haemorrhagic and cystic areas of the pituitary gland. In our patient, whether spontaneous remission of acromegaly due to subclinical pituitary haemorrhage was coincidental or due to long-acting octreotide therapy is still a dilemma. We report this case because of rarity and clinical importance of this unusual occurrence. PMID:27123308

  4. Reversible coma and Duret hemorrhage after intracranial hypotension from remote lumbar spine surgery: case report. (United States)

    Bonow, Robert H; Bales, James W; Morton, Ryan P; Levitt, Michael R; Zhang, Fangyi


    Intracranial hypotension is a rare condition caused by spontaneous or iatrogenic CSF leaks that alter normal CSF dynamics. Symptoms range from mild headaches to transtentorial herniation, coma, and death. Duret hemorrhages have been reported to occur in some patients with this condition and are traditionally believed to be associated with a poor neurological outcome. A 73-year-old man with a remote history of spinal fusion presented with syncope and was found to have small subdural hematomas on head CT studies. He was managed nonoperatively and discharged with a Glasgow Coma Scale score of 15, only to return 3 days later with obtundation, fixed downward gaze, anisocoria, and absent cranial nerve reflexes. A CT scan showed Duret hemorrhages and subtle enlargement of the subdural hematomas, though the hematomas remained too small to account for his poor clinical condition. Magnetic resonance imaging of the spine revealed a large lumbar pseudomeningocele in the area of prior fusion. His condition dramatically improved when he was placed in the Trendelenburg position and underwent repair of the pseudomeningocele. He was kept flat for 7 days and was ultimately discharged in good condition. On long-term follow-up, his only identifiable deficit was diplopia due to an internuclear ophthalmoplegia. Intracranial hypotension is a rare condition that can cause profound morbidity, including tonsillar herniation and brainstem hemorrhage. With proper identification and treatment of the CSF leak, patients can make functional recoveries.

  5. Relapsing-Remitting Severe Bickerstaff’s Brainstem Encephalitis – Case Report and Literature Review (United States)

    Tyrakowska, Zuzanna; Jakubowicz-Lachowska, Dominika; Kułakowska, Alina; Galińska-Skok, Beata; Drozdowski, Wiesław; Tarasów, Eugeniusz


    Summary Background Bickerstaff’s brainstem encephalitis (BBE) is a very rare disease of the central nervous system. Aetiology of the disease is auto-immunological. However, it is not entirely understood. Clinically BBE manifests in progressive ophthalmoplegia, ataxia and consciousness disturbances. Clinical symptoms are usually preceded by an unidentified infection of the upper respiratory tract. Usually, the disease has one phase, but individual relapses have also been described. Despite quite severe clinical symptoms, the prognosis is usually good. Case Report The article presents a case of a patient with relapsing-remitting severe BBE. The case is presented due to the relapsing-remitting clinical course of the disease that resulted in patient’s death, rarely described in the literature. We also present the results of subsequent MR scans in the course of the disease, so far described only in individual reports. It is also the first report in the world’s literature presenting the results of series of MR spectroscopy (MRS) examinations in the course of BBE. Conclusions MR examination is an important component in BBE diagnostics, allowing to differentiate atypical cases and place them under special supervision due to the possibility of the severe clinical course. MR also facilitates differentiation between Miller-Fisher Syndrome (MFS) and BBE in cases of diagnostic doubts. Adding MRS and MRI to the protocol allows us to define the nature of morphological changes more accurately in patients with suspected or diagnosed BBE. PMID:28096906

  6. A case of herpes zoster ophthalmicus preceded one week by diplopia and ophthalmalgia. (United States)

    Ota, Tomohiro; Yamazaki, Mineo; Toda, Yusuke; Ozawa, Akiko; Kimura, Kazumi


    A 66-year-old man presented with headache and ophthalmalgia. Diplopia developed, and he was hospitalized. The left eye had abducent paralysis and proptosis. We diagnosed him with Tolosa-Hunt syndrome and administered methylprednisolone at 1 g/day for 3 days. However, the patient did not respond to treatment. No abnormality was found on his MRI or cerebrospinal fluid examination. Tests showed his serum immunoglobulin G4 and antineutrophil cytoplasmic antibody titers were within normal limits. He also had untreated diabetes mellitus (HbA1c 9.2). One week after first presenting with symptoms, herpes zoster appeared on the patient's dorsum nasi, followed by keratitis and a corneal ulcer. Herpes zoster ophthalmicus with ophthalmoplegia was diagnosed. We began treatment with acyclovir (15 mg/kg) and prednisolone (1 mg/kg, decreased gradually). Ophthalmalgia and the eruption improved immediately. The eye movement disorder improved gradually over several months. It is rare that diplopia appears prior to cingulate eruption of herpes zoster ophthalmicus. We speculated that onset of the eruption was inhibited by strong steroid therapy and untreated diabetes mellitus.

  7. Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA. (United States)

    Limongelli, Anna; Tiranti, Valeria


    The presence of mtDNA abnormalities inherited as Mendelian traits indicates the existence of mutations in nuclear genes affecting the integrity of the mitochondrial genome. Two groups of nucleus-driven abnormalities have been described: qualitative alterations of mtDNA, i.e. multiple large-scale deletions of mtDNA, and quantitative decrease of the mtDNA copy number, i.e. tissue-specific depletion of mtDNA. Autosomal dominant or recessive (adPEO), progressive ophthalmoplegia and autosomal-recessive mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), are three neurodegenerative disorders associated with the coexistence of wild-type mtDNA with several deletion-containing mtDNA species. Heterozygous mutations of the genes encoding the muscle-heart isoform of the adenosine diphosphate/adenosine triphosphate mitochondrial translocator (ANT1), the main subunit of polymerase gamma (POLG1), and of the putative mtDNA helicase (Twinkle) have been found in adPEO families linked to three different loci, on chromosomes 4q34-35, 10q24, and 15q25, respectively. Mutations in the gene encoding thymidine phosphorylase have been identified in several MNGIE patients. Severe, tissue-specific depletion of mtDNA is the molecular hallmark of rapidly progressive hepatopathies or myopathies of infancy and childhood. Two genes, deoxyguanosine kinase and thymidine kinase type 2, both involved in the mitochondrion-specific salvage pathways of deoxynucleotide pools, have been associated with depletion syndromes in selected families.

  8. Acute orbital apex syndrome and rhino-orbito-cerebral mucormycosis

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    Anders UM


    Full Text Available Ursula M Anders,1 Elise J Taylor,1 Joseph R Martel,1–3 James B Martel1–3 1Research Center, Martel Eye Medical Group, Rancho Cordova, 2Graduate Medical Education, California Northstate University College of Medicine, Elk Grove, 3Department of Ophthalmology, Dignity Health, Carmichael, CA, USA Purpose: To demonstrate the successful clinical identification and management of rhino-orbital mucormycosis, a fungal infection with a high mortality rate. Patients and methods: A diabetic male patient with a headache and orbital apex syndrome in the right eye was examined using computed tomography (CT and magnetic resonance imaging (MRI for a possible fungal infection. Endoscopic surgical resection was performed and a pathology sample was taken. Specimens were prepared with Gömöri methenamine silver and hematoxylin and eosin staining. The patient was treated with liposomal amphotericin B 400 mg daily, followed by posaconazole 400 mg twice daily. Results: CT and MRI revealed a mass of the right sphenoid spreading into the orbit, indicative of a fungal infection. The biopsy confirmed the diagnosis of mucormycosis. Complete recovery of eyelid and oculomotor function was achieved after 10 months of treatment, although the patient continues to suffer from irreversible blindness in the right eye due to optic nerve atrophy. He has been without signs or symptoms of recurrence. Conclusion: Patients with rhino-orbito-cerebral mucormycosis need extensive surgical and medical treatment to maximize outcomes. Success requires multidisciplinary management. Keywords: ophthalmoplegia, sixth nerve palsy, diabetes mellitus, nephrotoxicity, amphotericin B, posaconazole

  9. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. (United States)

    Varma, Hemant; Faust, Phyllis L; Iglesias, Alejandro D; Lagana, Stephen M; Wou, Karen; Hirano, Michio; DiMauro, Salvatore; Mansukani, Mahesh M; Hoff, Kirsten E; Nagy, Peter L; Copeland, William C; Naini, Ali B


    Mitochondrial DNA (mtDNA) depletion syndrome manifests as diverse early-onset diseases that affect skeletal muscle, brain and liver function. Mutations in several nuclear DNA-encoded genes cause mtDNA depletion. We report on a patient, a 3-month-old boy who presented with hepatic failure, and was found to have severe mtDNA depletion in liver and muscle. Whole-exome sequencing identified a homozygous missense variant (c.544C > T, p.R182W) in the accessory subunit of mitochondrial DNA polymerase gamma (POLG2), which is required for mitochondrial DNA replication. This variant is predicted to disrupt a critical region needed for homodimerization of the POLG2 protein and cause loss of processive DNA synthesis. Both parents were phenotypically normal and heterozygous for this variant. Heterozygous mutations in POLG2 were previously associated with progressive external ophthalmoplegia and mtDNA deletions. This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion.

  10. Abducens nerve enhancement demonstrated by multiplanar reconstruction of contrast-enhanced three-dimensional MRI

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    Hosoya, T.; Adachi, M.; Sugai, Y. [Dept. of Radiology, Yamagata University School of Medicine (Japan); Yamaguchi, K.; Yamaguchi, K. [Dept. of Ophthalmology, Yamagata University School of Medicine (Japan); Kato, T. [3. Dept. of Internal Medicine, Yamagata University School of Medicine (Japan)


    We describe contrast enhancement of the cisternal portion of the abducens nerve and discuss its clinical significance. We examined 67 patients with ophthalmoplegia using contrast-enhanced 3-dimensional (3D) MRI with multiplanar reconstruction along the nerves and found 16 patients (ten men, six women), aged 10-73 years (mean 34.4 years), with contrast enhancement of the abducens nerve. Of the 36 patients who had an abducens palsy, 14 (39 %) showed contrast enhancement. In the 16 patients, 23 abducens nerves enhanced; 13 were symptomatic and 10 asymptomatic at the time. The causes were disseminated tumour (1), an inflammatory process (3), trauma (2), ischaemia (2) and autoimmune diseases (8), such as the Miller Fisher syndrome, acute ophthalmoparesis, polyneuropathy and multiple sclerosis. Abducens and/or oculomotor nerve enhancement was the only abnormality on MRI in the patients with traumatic or ischaemic neuropathy or autoimmune diseases. There were 14 patients who recovered fully within 1-6 months after treatment, and resolution of the enhancement correlated well with recovery. (orig.)

  11. Neurological manifestations of snake bite in Sri Lanka.

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    Seneviratne U


    Full Text Available BACKGROUND AND AIMS: Snake bite is an important cause of mortality and morbidity in certain parts of Sri Lanka. This study was designed to determine the offending snakes, neurological manifestations, disease course, and outcome in neurotoxic envenomation. METHODS AND MATERIAL: Fifty six consecutive patients admitted with neurological manifestations following snake bite were studied prospectively. Data were obtained regarding the offending snakes, neurological symptoms, time taken for onset of symptoms, neurological signs, and time taken for recovery. RESULTS: The offending snake was Russell′s viper in 27(48.2%, common and Sri Lankan krait in 19(33.9%, cobra in 3(5.4%, and unidentified in 7(12.5%. Ptosis was the commonest neurological manifestation seen in 48(85.7% followed by ophthalmoplegia (75%, limb weakness (26.8%, respiratory failure (17.9%, palatal weakness (10.7%, neck muscle weakness (7.1%, and delayed sensory neuropathy (1.8%. Neurological symptoms were experienced usually within 6 hours after the bite. Following administration of antivenom, the signs of recovery became evident within a few hours to several days. The duration for complete recovery ranged from four hours to two weeks. CONCLUSIONS: Complete recovery of neuromuscular weakness was observed in all patients except for one who died with intracerebral haemorrhage shortly after admission.

  12. Intracranial extension of adenoid cystic carcinoma of the palate: a case report

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    Oh, Yoon Kyeong; Kee, Keun Hong [College of Medicine, Chosun Univ., Kwangju (Korea, Republic of)


    Intracranial involvement by adenoid cystic carcinoma (ACC) is very rare and there is no report of intracranial extension from the palate ACC in Korea. Intracranial involvement can occur in one of three ways: direct extension, perineural spread, and hematogenous spread. A case report of a 35-year-old woman with intracranial ACC is presented. Initially she had ACC of the right palate and was treated by surgery and postoperative radiation therapy. Three years and 10 months later, the paresthesia in the distribution of ophthalmic and maxillary branch of right trigeminal nerve developed without evidence of recurrence in CT scan. Ptosis and total ophthalmoplegia developed sequentially and the second operation was performed. It was suggested that the tumor was spread perineurally along the trigeminal nerve into the Gasserian ganglion and then cavernous sinus and orbit. Seven years and 6 months after the first operation, direct intracranial extension into the right temporal lobe developed via sphenoid bone, sphenoid sinus and temporal bone and the third operation was done. And then Jung metastasis was diagnosed. She is alive for 9 years 5 months after first operation.

  13. Aneurisma micotico de origem extra-vascular Mycotic aneurysm of extravascular origin: a case report

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    Nelson Pires Ferreira


    Full Text Available É relatado o caso de uma paciente com três anos de idade portadora de oftalmoplegia completa unilateral e aneurisma da artéria carótida interna, em sua porção intra-cavernosa. A etiologia infecciosa extra-vascular, na vigência de tromboflebite de seio cavernoso, foi considerada. As informações da literatura são discutidas, sendo comentada a infrequência da patologia. A indicação de ligadura da artéria carótida interna, no tratamento desses aneurismas, merece ulterior comprovação.The case of a female patient presenting a complete unilateral ophthalmoplegia secundary to a septic aneurysm of the internal carotid artery is reported. The possible existence of an extravascular infectious etiology in view of the presence of trombophlebitis of the cavernous sinus is discussed. Pertinent reports from the literature are reviewed and the rarity of the phenomenon is commented. The indication for internal carotid artery ligation as a form of treatment deserves further observations.

  14. Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients. (United States)

    Ahola, Sofia; Auranen, Mari; Isohanni, Pirjo; Niemisalo, Satu; Urho, Niina; Buzkova, Jana; Velagapudi, Vidya; Lundbom, Nina; Hakkarainen, Antti; Muurinen, Tiina; Piirilä, Päivi; Pietiläinen, Kirsi H; Suomalainen, Anu


    Mitochondrial myopathy (MM) with progressive external ophthalmoplegia (PEO) is a common manifestation of mitochondrial disease in adulthood, for which there is no curative therapy. In mice with MM, ketogenic diet significantly delayed progression of the disease. We asked in this pilot study what effects high-fat, low-carbohydrate "modified Atkins" diet (mAD) had for PEO/MM patients and control subjects and followed up the effects by clinical, morphological, transcriptomic, and metabolomic analyses. All of our five patients, irrespective of genotype, showed a subacute response after 1.5-2 weeks of diet, with progressive muscle pain and leakage of muscle enzymes, leading to premature discontinuation of the diet. Analysis of muscle ultrastructure revealed selective fiber damage, especially in the ragged-red-fibers (RRFs), a MM hallmark. Two years of follow-up showed improvement of muscle strength, suggesting activation of muscle regeneration. Our results indicate that (i) nutrition can modify mitochondrial disease progression, (ii) dietary counseling should be part of MM care, (iii) short mAD is a tool to induce targeted RRF lysis, and (iv) mAD, a common weight-loss method, may induce muscle damage in a population subgroup.

  15. Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance? (United States)

    Da Pozzo, Paola; Rubegni, Anna; Rufa, Alessandra; Cardaioli, Elena; Taglia, Ilaria; Gallus, Gian Nicola; Malandrini, Alessandro; Federico, Antonio


    Progressive external ophthalmoplegia (PEO) with multiple deletions of mitochondrial DNA (mtDNA) is associated with several mutations in nuclear genes. They include POLG, POLG2, ANT1, C10orf2/Twinkle, and OPA1. However, digenic inheritance in mitochondrial disorders has been documented in a few cases over the years. Here we describe an 80-year-old man with sporadic PEO associated with mtDNA deletions. Sequencing of the POLG revealed a novel heterozygous mutation (c.2831A>G; p.Glu944Gly), predicted in silico as damaging, in the patient who also carried a heterozygous mutation in C10orf2/Twinkle (c.1142T>C; p.Leu381Pro). This case provides a second report of a PEO with different mutations in the POLG and C10orf2/Twinkle genes, supporting the hypothesis that the PEO phenotype can be determined by the co-existence of two abnormalities in separate genes, both involved in the maintenance and stability of mtDNA. Finally, this study expands the spectrum of POLG mutations and highlights the need to sequence the whole set of nuclear genes associated with PEO and multiple mtDNA deletions.

  16. Osteopathia striata with cranial sclerosis

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    Gay, B.B. [Emory Univ., Atlanta, GA (United States). Dept. of Radiology; Elsas, L.J. [Emory Univ., Atlanta, GA (United States). Dept. of Pediatrics; Wyly, J.B. [Emory Univ., Atlanta, GA (United States). Dept. of Radiology; Pasquali, M. [Emory Univ., Atlanta, GA (United States). Dept. of Pediatrics


    Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation. We will review the clinical and radiologic findings in a new patient from birth to 20 years; this is believed to be the thirty-fifth patient reported. OS-CS is 2.5 times more common in females and occurs as an autosomal dominant condition or a sporadic dominant mutation with patients presenting for evaluation from the newborn period to the fifth decade. Skeletal abnormalities are distinctive including sclerosis of the skull base and calvarium, linear striated densities in the long bones and pelvis, and poor development of the mastoid and sinus air cells. Radionuclide bone scans with SPECT indicated in our patient increased bone turnover which was supported by biochemical findings of increased pyridinoline excretion. The major complications are due to constriction of essential foramina at the skull base. The condition is not life-threatening but can produce disability. (orig.)

  17. Wernicke-Korsakoff syndrome in patients with cancer: a systematic review. (United States)

    Isenberg-Grzeda, Elie; Rahane, Sudhanshu; DeRosa, Antonio P; Ellis, Janet; Nicolson, Stephen E


    Wernicke-Korsakoff syndrome in patients with cancer is understudied. Much of what is known-that significant under-recognition and delays in treatment exist-comes from studies of alcohol misuse disorders or non-alcohol-related Wernicke-Korsakoff syndrome in patients. We investigated the frequency and associated features of cancer-related Wernicke-Korsakoff syndrome in the published literature. We included 90 articles reporting on 129 patients. Only 38 (30%) of 128 patients with data available exhibited the entire triad of classic features of Wernicke-Korsakoff syndrome: confusion, ataxia, and ophthalmoplegia or nystagmus. Diagnosis during life was missed altogether in 22 (17%) of 128 patients. The operational diagnostic criteria (at least two of the following: nutritional deficiency, ocular signs, cerebellar signs, and either altered mental status or mild memory impairment), which are considered more reliable than the classical triad, were used in only nine (7%) cases, yet 120 (94%) met the operational criteria for diagnosis at the time of presentation when applied retroactively. Complete recovery was reported in only 47 (36%) cases. Given that oncologists or haematologists accounted for only 17 (19%) first authors among the articles included, it is important that oncologists are aware of the risk factors for cancer-related Wernicke-Korsakoff syndrome, and that they are vigilant about diagnosing and treating the disease especially in the absence of alcohol misuse disorders.

  18. Regional Cerebral Perfusion in Progressive Supranuclear Palsy

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    Lee, Won Yong; Lee, Ki Hyeong; Yoon, Byung Woo; Lee, Sang Bok; Jeon, Beom S. [Samsung Medical Center, Seoul (Korea, Republic of); Lee, Kyung Han; Lee, Myung Chul [Seoul National University College of Medicine, Seoul (Korea, Republic of)


    Progressive supranuclear palsy (PSP) is a Parkinson-plus syndrome characterized clinically by supranuclear ophthalmoplegia, pseudobulbar palsy, axial rigidity, bradykinesia, postural instability and dementia. Presence of dementia and lack of cortical histopathology suggest the derangement of cortical function by pathological changes in subcortical structures in PSP, which is supported by the pattern of behavioral changes and measurement of brain metabolism using positron emission tomography. This study was done to examine whether there are specific changes of regional cerebral perfusion in PSP and whether there is a correlation between severity of motor abnormaility and degree of changes in cerebral perfusion. We measured regional cerebral perfusion indices in 5 cortical and 2 subcortical areas in 6 patients with a clinical diagnosis of PSP and 6 healthy age and sex matched controls using Tc-99m-HMPAO SPECT. Compared with age and sex matched controls, only superior frontal regional perfusion index was significantly decreased in PSP (p<0.05). There was no correlation between the severity of the motor abnormality and any of the regional cerebral perfusion indices (p>0.05). We affirm the previous reports that perfusion in superior frontal cortex is decreased in PSP. Based on our results that there was no correlation between severity of motor abnormality and cerebral perfusion in the superior frontal cortex, nonmotoric symptoms including dementia needs to be looked at whether there is a correlation with the perfusion abnormality in superior frontal cortex

  19. Role of anti-GQ1B antibody in differential diagnosis of acute ophthalmoparesis

    Directory of Open Access Journals (Sweden)

    E Ece Boylu


    Full Text Available E Ece Boylu, R Erdem Togrol, Mehmet Güney Şenol, M Fatih Özdag, Mehmet SaraçogluGATA Hadarpaşa Educational and Research Hospital, Department of Neurology, Istanbul, TurkeyAbstract: Miller Fisher syndrome (MFS is a triad of total external ophthalmoplegia, ataxia, and areflexia, while botulism has the usual clinical presentation of involvement of cranial muscles and palsies with blurred vision, diplopia, ptosis, dilated pupils, and facial paralysis, caused by a bacterial neurotoxin which attacks proteins involved in presynaptic vesicle release. In this report, we needed to make the differential diagnosis between MFS and botulism in a patient who presented with acute ophthalmoparesis and a history of diarrhea three days before, which started two days after consuming tinned food. Routine laboratory, neurophysiologic, and imaging investigations were normal. A clinical diagnosis of Miller Fisher syndrome was reached by anti-ganglioside GQ1B and GM1 Ig G and M antibody investigations which proved positive. The patient was treated with intravenous immunoglobulin two weeks after (in the late period the symptoms started and he has recovered completely. Systemic autoimmune diseases should be considered in patients with bilateral ophthalmoparesis. As in the present patient, the evaluation of specific antibodies helps in the diagnosis and thus early effective treatment is possible.Keywords: anti-ganglioside antibody, botulism, Miller Fisher syndrome, ophthalmoparesis

  20. Fifty-eight cases of ocular ischemic diseases caused by carotid artery stenosis

    Institute of Scientific and Technical Information of China (English)

    LUO Rong-jiang; LIU Shao-rui; LI Xiao-min; ZHUO Ye-hong; TIAN Zhen


    Background The blood supply to the eye comes from the retinal central vascular system of the ophthalmic artery and the ciliary vascular system. The ophthalmic artery stems from the ipsilateral internal carotid artery. If occlusion or stenosis occurs in the carotid artery, the blood perfusion to the ophthalmic artery becomes insufficient, leading to signs and symptoms of anterior and posterior ocular ischemia. The objective of this study was to evaluate the clinical characteristics and risk factors of ocular ischemic diseases caused by carotid artery stenosis.Methods This study was a retrospective review of 145 patients with carotid artery stenosis. Fifty-eight patients who had symptoms of ocular ischemic disease caused by carotid artery stenosis formed group A and the other 87 patients who only had carotid artery stenosis formed group B. We analyzed the causes and course of disease, and relative risk factors,by comparing the two groups.Results The degree of carotid artery stenosis in group A was higher than that in group B. And group A had a greater decrease of ophthalmic artery flow. Male, hypertension, hyperlipidemia, and smoking were significantly related to carotid artery stenosis. Amaurosis fugax was the most common ocular symptom in group A. The ocular ischemic diseases mainly included ischemic optic neuropathy, central/branch retinal artery occlusion, ophthalmoplegia externa, and ocular ischemic syndrome.Conclusions Carotid artery stenosis correlates with ocular ischemic diseases. Ophthalmologists must observe for ocular symptoms, which were the onset symptoms in some patients.

  1. Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA

    DEFF Research Database (Denmark)

    Pedersen, Gitte Hedermann; Løkken, Nicoline; Dahlqvist, Julia R.


    Background  The aim of this study was to assess the frequency of subjective and objective dysphagia in patients with chronic progressive external ophthalmoplegia (CPEO) due to single, large-scale deletions (LSDs) of mitochondrial DNA (mtDNA). Methods  Sixteen patients with CPEO and single LSDs...... and single LSDs of mtDNA had a prolonged cold-water test, including one with a PEG-tube, who was unable to perform the test, and nine patients reported subjective swallowing problems (56.3%). All mitochondrial myopathy patients in the control group had a normal duration of the cold-water test.  Conclusions......  The study shows that dysphagia is a common problem in patients with CPEO and LSDs of mtDNA. Dysphagia seems to be progressive with age as abnormal swallowing occurred preferentially in persons ≥ 45 years. The study shows that increased awareness of this symptom should be given to address appropriate...

  2. The effects of prednisone and steroid-sparing agents on decay accelerating factor (CD55) expression: implications in myasthenia gravis. (United States)

    Auret, Jennifer; Abrahams, Amaal; Prince, Sharon; Heckmann, Jeannine M


    Decay accelerating factor (DAF) expression at the muscle endplate is an important defence against complement-mediated damage in myasthenia gravis. Previously we implicated the c.-198C>G DAF polymorphism with the development of treatment-resistant myasthenia-associated ophthalmoplegia by showing that the C>G DAF polymorphism prevented lipopolysaccharide-induced upregulation of lymphoblast DAF. We postulated that drugs used in myasthenia gravis may increase the susceptibility of extraocular muscles to complement-mediated damage and studied their effects on endogenous DAF using patient-derived lymphoblasts as well as mouse myotubes. We show that prednisone repressed C>G DAF expression in lymphoblasts and increased their susceptibility to cytotoxicity. Methotrexate, but not azathioprine or cyclosporine, increased DAF in C>G lymphoblasts. In mouse myotubes expressing wild-type Daf, prednisone also repressed Daf expression. Although cyclosporine, azathioprine, and methotrexate increased muscle Daf levels when used alone, upon co-treatment with prednisone only azathioprine maintained myotube Daf levels close to basal. Therefore, prednisone negatively influences DAF expression in C>G lymphoblasts and in myotubes expressing wild-type Daf. We speculate that myasthenic individuals at risk of developing the ophthalmoplegic complication, such as those with C>G DAF, may have inadequate endogenous levels of complement regulatory protein protection in their extraocular muscle in response to prednisone, increasing their susceptibility to complement-mediated damage.

  3. Mitochondrial disorders and the eye

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    O’Neill EC


    Full Text Available Nicole J Van Bergen, Rahul Chakrabarti, Evelyn C O'Neill, Jonathan G Crowston, Ian A TrounceCentre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Victoria, AustraliaAbstract: The clinical significance of disturbed mitochondrial function in the eye has emerged since mitochondrial DNA (mtDNA mutation was described in Leber's hereditary optic neuropathy. The spectrum of mitochondrial dysfunction has become apparent through increased understanding of the contribution of nuclear and somatic mtDNA mutations to mitochondrial dynamics and function. Common ophthalmic manifestations of mitochondrial dysfunction include optic atrophy, pigmentary retinopathy, and ophthalmoplegia. The majority of patients with ocular manifestations of mitochondrial disease also have variable central and peripheral nervous system involvement. Mitochondrial dysfunction has recently been associated with age-related retinal disease including macular degeneration and glaucoma. Therefore, therapeutic targets directed at promoting mitochondrial biogenesis and function offer a potential to both preserve retinal function and attenuate neurodegenerative processes.Keywords: mitochondria, disease, retina, eye, aging, neuroprotection

  4. [Varicella zoster virus-induced meningoencephalitis complicated with orbital apex syndrome: a case report]. (United States)

    Wakida, Kenji; Sakurai, Takeo; Nishida, Hiroshi


    A 69-year-old male was admitted to hospital with clouded consciousness and abnormal behavior. His body temperature was 38.2 degree Celsius upon admission and he was somnolent. Herpes zoster was observed along the first division of the trigeminal nerve on the right side of the face. The right palpebra was severely swollen, and the right eye showed a dilated pupil, loss of light reflex, and total ophthalmoplegia. A spinal tap revealed pleocytosis and increased proteins, and a DNA-PCR test for varicella-zoster virus (VZV) was positive. Optic neuritis was diagnosed based on fundoscopy. Following acyclovir administration, the patient regained full consciousness and the rash was alleviated; however, visual acuity did not recover. VZV-induced meningoencephalitis complicated with orbital apex syndrome is rarely observed. We suspect that VZV initially infected the nasociliary nerve at the distal end of the first division of trigeminal nerve and spread to the adjacent optic, oculomotor, trochlear, and abducens nerves, resulting in VZV-induced meningoencephalitis complicated with orbital apex syndrome.

  5. Thirty Days without a Bite: Wernicke's Encephalopathy in a Patient with Paranoid Schizophrenia. (United States)

    Langlois, Mélanie; Doré, Marie-Claire; Laforce, Robert


    Wernicke's Encephalopathy (WE) is a preventable neurologic condition characterized by altered mental status, ophthalmoplegia, and ataxia. Although historically associated with alcoholism, a few authors have described WE in patients with non-alcohol related psychiatric disorders. We report herein the case of a 36-year-old young man with paranoid schizophrenia who was brought to hospital for confusion and difficulties with his vision. His roommate said he had gone about thirty days without eating '…because he was on a slimming cure'. History and physical examination suggested WE as a result of isolation and poor diet leading to nutritional deficiency. This was confirmed by brain magnetic resonance imaging showing classic thalamic, mammillary bodies and brainstem lesions. Of note, his cognitive profile was far more heterogeneous than what had classically been described in the literature and involved both cortical and subcortical pathology, generating memory but also significant executive deficits. Intravenous treatment with thiamine was given and our patient showed mild improvements in visual acuity and nystagmus. However, persistent cognitive and physical disabilities consistent with Korsakoff syndrome remained, and he now lives in a supervised home. This case illustrates the tragic consequences of nutritional deficiencies in a patient with paranoid schizophrenia. The threshold to suspect WE in schizophrenic patients should be lowered and in doubt prophylactic parenteral thiamine should be administered.

  6. Fatal dilated cardiomyopathy associated with a mitochondrial DNA deletion. (United States)

    Moslemi, A R; Selimovic, N; Bergh, C H; Oldfors, A


    A 27-year-old man was admitted to hospital because of severe cardiac failure. Investigation revealed dilated cardiomyopathy with a left ventricular ejection fraction of 15-20%. During adolescence the patient had been investigated for growth retardation and he also had progressive external ophthalmoplegia. There had been no symptoms of cardiac disease until 2 weeks before admittance. An endomyocardial biopsy showed cardiomyocytes deficient in cytochrome c oxidase (COX) in a mosaic pattern. A skeletal muscle biopsy showed mitochondrial myopathy with COX-deficient ragged-red fibers. Molecular genetic analysis revealed a heteroplasmic, 3.8-kb, mitochondrial DNA (mtDNA) deletion in heart and muscle. PCR-based quantification of the proportion of mtDNA with deletion showed 47% mutated mtDNA in the myocardial biopsy and 68% in muscle. In spite of treatment, the condition deteriorated and the patient died 5 days after admittance. This case demonstrates that mtDNA deletions may occasionally be the cause of severe dilated cardiomyopathy, and that morphological and molecular genetic diagnosis may be obtained by endomyocardial biopsy. Copyright 2000 S. Karger AG, Basel.

  7. Ataxia and deafness in a young male: An unusual aetiology

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    Prakash A


    Full Text Available We report here a case of 18 year old male with tremors of hands, deafness, tendency to fall while walking, drowsiness and double vision of total duration 1½ years. He had internuclear ophthalmoplegia, broken saccades, hypertonia and hyperreflexia of all four limbs, intention tremors, signs of gait and limb ataxia. Pupillary reactions and fundus examination were normal and signs of meningeal irritation or sensory neurological deficit were absent. MRI head and cervical spine with gadolinium enhancement revealed demyelination as evident from multiple oblong foci isointense on T1-weighted images and hyperintense on T2-weighted and fluid attenuated inversion recovery sequences in corpus callosum, sub-cortical white matter, right thalamus, pons and periaqueductal region of midbrain. Ill-defined linear hyperintense signals were observed in cervical spinal cord. No skeletal abnormality was noted in the skull or cervical spine. Oligoclonal bands were present in the cerebrospinal fluid. Brainstem auditory evoked potentials were abnormal, although visual evoked potentials were in normal range. A diagnosis of primary progressive multiple sclerosis (PPMS was made fulfilling the revised criteria as laid down. In view of its presentation, it is a unique case of PPMS from India.

  8. Ophthalmoplegic migraine: A critical analysis and a new proposal

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    Ambar Chakravarty


    Full Text Available The nosology, classification and pathophysiology of ophthalmoplegic migraine (OM remains complex and debatable. A recently proposed classification of OM leaves several caveats. A critical analysis of all reported cases of OM (1993-2010 has been made incorporating the authors′ own experience to arrive at a simple, unambiguous and easy to use diagnostic criteria and classification of OM. Between 2005 and 2010, 18 adult cases of OM had been seen whose clinical details are summarized. Most had sixth nerve palsies associated with migraine-like headaches lasting more than 4 days. Other possibilities were carefully excluded. All subjects responded to corticosteroids favorably. We prefer using the term ophthalmoplegia with migraine-like headache (OMLH rather than OM. We classify OMLH as a migraine subtype (1.7 and into two groups-childhood-onset type (where third nerve palsies and nerve enhancement are common and adult-onset type (where sixth nerve palsies are more common and nerve enhancement unusual. This clinico-radiological classification does not in any way hint at any difference in pathophysiology between the two groups.

  9. Bedside Tested Ocular Motor Disorders in Multiple Sclerosis Patients

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    G. Servillo


    Full Text Available Background/Aims. Ocular motor disorders (OMDs are a common feature of multiple sclerosis (MS. In clinical practice, if not reported by patients, OMDs are often underdiagnosed and their prevalence is underestimated. Methods. We studied 163 patients (125 women, 76.7%, 38 men, 23.3%; median age 45.0 years; median disease duration 10 years; median EDSS 3.5 with definite MS (n=150, 92% or clinically isolated syndrome (n=13, 8% who underwent a thorough clinical examination of eye movements. Data on localization of previous relapses, MS subtype, and MRI findings were collected and analyzed. Results. Overall, 111/163 (68.1% patients showed at least one abnormality of eye movement. Most frequent OMDs were impaired smooth pursuit (42.3%, saccadic dysmetria (41.7%, unilateral internuclear ophthalmoplegia (14.7%, slowing of saccades (14.7%, skew deviation (13.5%, and gaze evoked nystagmus (13.5%. Patients with OMDs had more severe disability (P=0.0005 and showed more frequently infratentorial MRI lesions (P=0.004. Localization of previous relapses was not associated with presence of OMDs. Conclusion. OMDs are frequent in patients with stable (no relapses MS. A precise bedside examination of eye motility can disclose abnormalities that imply the presence of subclinical MS lesions and may have a substantial impact on definition of the diagnosis and on management of MS patients.

  10. Study on diagnosis and treatment of hereditary ataxia%遗传性共济失调诊断与治疗专家策略

    Institute of Scientific and Technical Information of China (English)

    唐北沙; 江泓


    Hereditary ataxia (HA) is a clinically and genetically heterogeneous group of neurodegenerative disorders with high mortality and morbidity. It is characterized by progressive cerebellar ataxia of gait and limbs variably associated with ophthalmoplegia, pigmentary retinopathy, pyramidal and extrapyramidal signs, dementia and peripheral neuropathy. The molecular diagnosis process is proposed based on molecular classification. So far, symptomatic treatment is the mainly approach, with the lack of effective therapeutic method.%遗传性共济失调是一大类具有高度临床和遗传异质性、病死率和病残率较高的遗传性神经系统退行性疾病.临床上以小脑共济失调为主要特征,表现为平衡障碍、进行性肢体协调运动障碍、步态不稳、构音障碍、眼球运动障碍等,并可伴有复杂的神经系统损害.本文结合疾病分子分型提出了遗传性共济失调的分子诊断流程.目前此类疾病尚缺乏有效的治疗方法,主要以对症治疗为主.

  11. Inherited peripheral neuropathies due to mitochondrial disorders. (United States)

    Cassereau, J; Codron, P; Funalot, B


    Mitochondrial disorders (MIDs) are frequently responsible for neuropathies with variable severity. Mitochondrial diseases causing peripheral neuropathies (PNP) may be due to mutations of mitochondrial DNA (mtDNA), as is the case in MERRF and MELAS syndromes, or to mutations of nuclear genes. Secondary abnormalities of mtDNA (such as multiple deletions of muscle mtDNA) may result from mitochondrial disorders due to mutations in nuclear genes involved in mtDNA maintenance. This is the case in several syndromes caused by impaired mtDNA maintenance, such as Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO) due to recessive mutations in the POLG gene, which encodes the catalytic subunit of mtDNA polymerase (DNA polymerase gamma), or Mitochondrial Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE), due to recessive mutations in the TYMP gene, which encodes thymidine phosphorylase. The last years have seen a growing list of evidence demonstrating that mitochondrial bioenergetics and dynamics might be dysfunctional in axonal Charcot-Marie-Tooth disease (CMT2), and these mechanisms might present a common link between dissimilar CMT2-causing genes. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  12. Tolosa-Hunt syndrome: is it really necessary to show granuloma? - The report of eight cases

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    Podgorac Ana


    Full Text Available Introduction. Tolosa–Hunt syndrome (THS is a rare entity, characterized by unilateral orbital pain associated with paresis of one or more of the oculomotor cranial nerves and caused by a granulomatous inflammation in the cavernous sinus, superior orbital fissure or orbit. The low prevalence of THS with a broad spectrum of other disorders that could cause painful ophtalmoplegia resulted in a stricter diagnostic criteria of THS in the latest edition of the International Classification of Headache Disorders. Current criteria require demonstration of granuloma by magnetic resonance imaging or biopsy. The diagnosis could be difficult and the initiation of treatment delayed due to a high variablity of clinical presentation of TSH. Reducing the number of patients that, based on clinical presentation, could be classified as having THS, but do not fullfil all diagnostic criteria further complicates establishing of correct diagnosis. Case report. Hereby we presented eight patients diagnosed with and treated for THS. Inspite the exclusion of other causes of painful ophtalmoplegia, granuloma could not be demonstrated in a half of patients. Clinical presentation of THS in patients with and without shown granuloma, did not significantly differ concerning headache characteristics (localization, intensity, quality, duration preceding cranial nerve palsy, response to steroids, the affected cranial nerve, disease course and response to the treatment, as well as types of diagnostic procedures that were performed in ruling out other diseases from the extensive differential diagnosis of painful ophthalmoplegia. Conclusion. There is no significant difference between the THS patients with and without demonstrated granuloma.

  13. Disruption of mitochondrial DNA replication in Drosophila increases mitochondrial fast axonal transport in vivo.

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    Rehan M Baqri

    Full Text Available Mutations in mitochondrial DNA polymerase (pol gamma cause several progressive human diseases including Parkinson's disease, Alper's syndrome, and progressive external ophthalmoplegia. At the cellular level, disruption of pol gamma leads to depletion of mtDNA, disrupts the mitochondrial respiratory chain, and increases susceptibility to oxidative stress. Although recent studies have intensified focus on the role of mtDNA in neuronal diseases, the changes that take place in mitochondrial biogenesis and mitochondrial axonal transport when mtDNA replication is disrupted are unknown. Using high-speed confocal microscopy, electron microscopy and biochemical approaches, we report that mutations in pol gamma deplete mtDNA levels and lead to an increase in mitochondrial density in Drosophila proximal nerves and muscles, without a noticeable increase in mitochondrial fragmentation. Furthermore, there is a rise in flux of bidirectional mitochondrial axonal transport, albeit with slower kinesin-based anterograde transport. In contrast, flux of synaptic vesicle precursors was modestly decreased in pol gamma-alpha mutants. Our data indicate that disruption of mtDNA replication does not hinder mitochondrial biogenesis, increases mitochondrial axonal transport, and raises the question of whether high levels of circulating mtDNA-deficient mitochondria are beneficial or deleterious in mtDNA diseases.

  14. Disseminated Mucormycosis With Cerebral Involvement Owing to Rhizopus Microsporus in a Kidney Recipient Treated With Combined Liposomal Amphotericin B and Posaconazole Therapy. (United States)

    Ville, Simon; Talarmin, Jean Philippe; Gaultier-Lintia, Alina; Bouquié, Régis; Sagan, Christine; Le Pape, Patrice; Giral, Magali; Morio, Florent


    Three months after a kidney transplant, a man experienced an internuclear ophthalmoplegia. Magnetic resonance imaging found a punctuate hyperintensity of the brainstem. Afterwards, the patient presented with peripheral facial paralysis. A complete morphologic assessment showed an increase of the brainstem lesion, together with an excavated pulmonary nodule. Combination therapy with high-dose liposomal amphotericin B and voriconazole was begun for the putative aspergillosis. Owing to its atypical clinical presentation and negative detection of Aspergillus galactomannan antigen on sera, a biopsy specimen of the lung lesion was obtained. Histopathological and mycological investigations allowed the diagnosis of mucormycosis owing to Rhizopus microsporus. Accordingly, voriconazole was replaced with posaconazole. After 5 months, regression of the cerebral lesion was noted. Disseminated mucormycosis in solid-organ recipients is uncommon and mycological diagnosis is challenging. Mortality is high and is increased by diagnostic delay. Treating mucormycosis requires surgical debridement and appropriate antifungal therapy (usually intravenous liposomal amphotericin B). This report suggests that a combination of liposomal amphotericin B and posaconazole can be a therapeutic option in patients with a poor prognosis.

  15. Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations

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    Karkare Kalyani


    Full Text Available An 11-year-old girl manifested with photophobia, ptosis, external ophthalmoplegia, hypotonia, weakness of proximal limb muscles, hyporeflexia, and generalized seizures (six months. Her elder sister had had uncontrolled seizures and photophobia and died at seven years of age. In the patient, serum lactate was high (55 mg/dl. Muscle biopsy revealed characteristic ragged red and ragged blue fibers, diagnostic of mitochondrial cytopathy. Sequencing of the complete mitochondrial genome of the DNA obtained from the muscle biopsy of the patient did not show any characteristic mutation. Four months later, the girl was admitted with a one-week history of epilepsia partialis continua (EPC. EEG revealed Periodic Lateralized Epileptiform Discharges (PLEDs, once in 2-4 seconds, over the right temporo-occipital leads. MRI revealed signal change of right motor cortex, which had restricted diffusion. MR spectroscopy (MRS from this region revealed lactate peak. EPC remained refractory to multiple anti-epileptic drugs, immuno-modulators, coenzyme-Q, and carnitine. This thought provoking report expands the spectrum of mitochondrial cytopathies.

  16. Clinical study on myocardial imaging with. beta. -methyl-p-( sup 123 I)-iodophenyl-pentadecanoic acid in patients with mitochondrial myopathy

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    Kihara, Koichi; Nakajo, Masayuki; Shono, Hirohisa (Kagoshima Univ. (Japan). Faculty of Medicine) (and others)


    Myocardial imaging with {beta}-methyl-p-({sup 123}I)-iodophenyl-pentadecanoic acid ({sup 123}I-BMIPP), a new radiopharmaceutical designed to evaluate myocardial fatty acid metabolism, was performed in 7 patients with mitochondrial myopathy to detect their myocardial damages in comparison with {sup 201}Tl myocardial imaging. These patients were divided into 4 chronic progressive external ophthalmoplegia (CPEO) cases, 2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) cases and 1 myoclonus epilepsy with ragged-red fibers (MERRF). In visual assessment, we observed more myocardial segments with decreased uptake of {sup 123}I-BMIPP compared to {sup 201}Tl in MELAS cases than in CPEO cases. The mean myocardial uptake of {sup 123}I-BMIPP was higher than that of {sup 201}Tl in CPEO cases. On the other hand, in MELAS and MERRF cases, the mean myocardial uptake of {sup 123}I-BMIPP was lower than that of {sup 201}Tl. Abnormal findings suggesting myocardial damages were observed in echocardiogram and/or in electrocardiogram in MELAS and MERRF cases, while no such abnormal findings were observed in CPEO cases. Along with the previously reported experimental result that the impairment of rat myocardial mitochondria decreased myocardial uptake of {sup 123}I-BMIPP, these results suggest that {sup 123}I-BMIPP may be useful to detect myocardial damages in patients with mitochondrial myopathy. (author)

  17. Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

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    Julie Harvengt


    Full Text Available A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutation in the GBA gene. She was treated by enzyme replacement therapy (ERT. Clinical follow-up showed mild developmental delay, strabismus, nystagmus and oculomotor apraxia. Biochemical studies revealed multiple respiratory chain deficiencies and a mosaic pattern of deficient complex IV immunostaining in liver and fibroblast. Molecular analysis identified a mtDNA depletion syndrome due to the homozygous p.Pro98Leu mutation in MPV17. A younger sister unaffected by mtDNA depletion, presented with pancytopenia and hepatosplenomegaly. ERT for Gaucher disease resulted in visceral normalization without any neurological symptom. A third sister, affected by both conditions, had marked developmental delay, strabismus and ophthalmoplegia but no liver cirrhosis. In conclusion, intrafamilal variability occurs in MPV17-related disease. The combined pathological effect of Gaucher and mitochondrial diseases can negatively impact neurological and liver functions and influence the outcome in consanguineous families. The immunocytochemical staining of OXPHOS protein in tissues and cultured cells is a powerful tool revealing mosaic pattern of deficiency pointing to mtDNA-related mitochondrial disorders.

  18. Tolosa-Hunt syndrome masquerading as a carotid artery dissection

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    Taylor EJ


    Full Text Available Elise J Taylor,1 Ursula M Anders,1 Joseph R Martel,1–4 James B Martel1–4 1Research Center, Martel Eye Medical Group, Rancho Cordova, 2Graduate Medical Education, California Northstate University College of Medicine, Elk Grove, 3Department of Ophthalmology, Sutter Medical Health, Sacramento, 4Department of Ophthalmology, Dignity Health, Carmichael, CA, USA Purpose: To demonstrate the difficulties of diagnosing a patient with Tolosa-Hunt syndrome (THS due to its complicated presentation and extensive diagnostic testing, and how to manage the treatment of a patient in an emergent setting. Patients and methods: A female patient with THS affecting the left eye was examined using two magnetic resonance imaging (MRI scans. The patient was treated with high-dose methylprednisolone (Solu-Medrol® and prednisone. A follow-up MRI and magnetic resonance angiogram (MRA was also performed 4 months later. Results: The second MRI scan disclosed a 5x9x10 mm lesion in the left superior orbital fissure/cavernous sinus. After administration of methylprednisolone and prednisone, the patient’s pain completely resolved, and the left eye regained full duction and eyelid mobility. The MRI and MRA obtained after the treatment showed no abnormalities. Conclusion: The rarity of THS makes it difficult to diagnose, especially when there is a question of accuracy and reproducibility of the testing performed. An ophthalmologic consultation in such cases is crucial. Keywords: granulomatous lesion, painful ophthalmoplegia, idiopathic orbital inflammation, multiple cranial nerve palsies  

  19. Anti-snake venom: use and adverse reaction in a snake bite study clinic in Bangladesh

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    MR Amin


    Full Text Available Snakebites can present local or systemic envenomation, while neurotoxicity and respiratory paralysis are the main cause of death. The mainstay of management is anti-snake venom (ASV, which is highly effective, but liable to cause severe adverse reactions including anaphylaxis. The types of adverse reaction to polyvalent anti-snake venom have not been previously studied in Bangladesh. In this prospective observational study carried out between 1999 and 2001, in the Snake Bite Study Clinic of Chittagong Medical College Hospital, 35 neurotoxic-snake-bite patients who had received polyvalent anti-snake venom were included while the ones sensitized to different antitoxins and suffering from atopy were excluded. The common neurotoxic features were ptosis (100%, external ophthalmoplegia (94.2%, dysphagia (77.1%, dysphonia (68.5% and broken neck sign (80%. The percentage of anti-snake venom reaction cases was 88.57%; pyrogenic reaction was 80.64%; and anaphylaxis was 64.51%. The common features of anaphylaxis were urticaria (80%; vomiting and wheezing (40%; and angioedema (10%. The anti-snake venom reaction was treated mainly with adrenaline for anaphylaxis and paracetamol suppository in pyrogenic reactions. The average recovery time was 4.5 hours. Due to the danger of reactions the anti-snake venom should not be withheld from a snakebite victim when indicated and appropriate guidelines should be followed for its administration.

  20. Cerebrolysin as a nerve growth factor for treatment of acquired peripheral nervous system diseases

    Institute of Scientific and Technical Information of China (English)

    Sherifa Ahmad Hamed


    Cerebrolysin is a drug consisting of low-molecular-weight neurotrophic peptides and free amino acids. Cerebrolysin has been shown to ameliorate the effects of oxidative stress, reduce apoptosis, and promote neuronal growth in several degenerative and acquired central nervous system insults, including dementias, stroke, and traumatic injuries. Little is known about its therapeutic efficacy in peripheral nervous system diseases. In this study, we clinically evaluated the effects of cerebrolysin on peripheral nervous system lesions. We evaluated the clinical efficacy of cerebrolysin in six patients with the following conditions who failed to respond to conventional therapies: (1) atonic bladder due to inflammatory radiculitis; (2) paraplegia due to inflammatory radiculoneuropathy; (3) post-traumatic brachial plexopathy; (4) compressive radial nerve injury; (5) post-traumatic facial nerve paralysis; and (6) diabetic ophthalmoplegia. Our results showed that cerebrolysin was more associated with rapid neurological recovery after various peripheral nerve lesions than other therapies including steroids and supportive therapies such as vitamins and antioxidants. The present results support the therapeutic efficacy of cerebrolysin in the treatment of acquired peripheral nervous system diseases.

  1. 80例以复视为首发症状的眼外肌麻痹病因分析%Analysis of 80 cases of extraocular muscles paralysis with diplopia

    Institute of Scientific and Technical Information of China (English)



    intracranial tumors ,one by multiple sclerosis ,one by neurosyphilis ,and 1 by brainstem encepha-litis.Conclusions Many neurological diseases can cause nerve ophthalmic signs such as diplopia .The most common cau-ses including diabetic ophthalmoplegia , cerebrovascular disease , and aneurysms ophthalmoplegia .Atherosclerosis is also an important cause.Other etiologies include myasthenia gravis (ocular), somatoform disorders, intracranial mass, etc.The e-tiology of patients with extraocular muscles paralysis and diplopia is complex and easy to be misjudged .Therefore,much at-tention should be paid to the exact diagnosis and proper management .

  2. 以眼部表现为主线粒体脑肌病的临床和病理特点%Clinical and pathological analysis in patients with Mitochondrial encephalomyopathy with mainly symptoms in the eye

    Institute of Scientific and Technical Information of China (English)

    孙莉; 卢家红; 陆肇曾


    目的 探讨以眼部表现为主线粒体脑肌病的临床、病理特点.方法 对12例慢性进行型眼外肌麻痹(CPEO)和2例Keams-Sayre综合征(KSS)的临床表现和肌肉活检结果进行分析.结果 14例患者中男8例,女6例,平均起病年龄11.5岁.2例为同胞兄弟.14例均有进行性加重的双睑下垂和眼球活动障碍,其中2例起病不对称,1例双眼复视.除眼外肌麻痹外,5例闭目肌力减退,1例轻度肢体无力,1例心脏传导阻滞,2例有视网膜色素变性、3例伴内分泌功能异常.肌活检破碎红纤维(RRF)阳性肌纤维数和细胞色素氧化酶(COX)阴性肌纤维数均明显增多.结论 CPEO和KSS主要临床表现为进行性发展的眼外肌麻痹,可伴肢体肌无力、视网膜色素变性、听力障碍、心脏传导异常、内分泌异常等.诊断主要依赖临床和肌肉活检中发现不同数量的RRF阳性肌纤维、COX阴性肌纤维.%Objective To investigate the clinical manifestations,pathological characteristics of mitochondrial encephalomyopathy with the mainly symptoms in the eye.Methods Clinical manifestations and pathological changes were analyzed in 12 patients with chronic progressive external opthalmoplegia (CPEO) and 2 patients with kearns-sayre syndrome.Results:In 14 patients,8 were male and 6 female.The average age of onset was 1 1.5 years old,2 were siblings.All patients showed chronic progressive ptosis and difficulty in eye movements.All were symmetric except 2 at early stage.Besides ophthalmoplegia,5 had orbicularis weakness,1 had mild limb weakness,1 had auditory defect,2 had retinitis pigmentosa,3 had endocrine disfunction.Ragged-red fiber (RRF) positive muscle fibers and cytochnome cxidase (COX) deficient muscle fibers were increased in all specimens of muscle biopsies.Conclusions The major clinical manifestation of CPEO and kss is progressive ophthalmoplegia,which can be accompanied by limb weakness,retinitis pigmentosa,deafness,heart conduction defect

  3. The accuracy of the Edinburgh diplopia diagnostic algorithm. (United States)

    Butler, L; Yap, T; Wright, M


    PurposeTo assess the diagnostic accuracy of the Edinburgh diplopia diagnostic algorithm.MethodsThis was a prospective study. Details of consecutive patients referred to ophthalmology clinics at Falkirk Community Hospital and Princess Alexandra Eye Pavilion, Edinburgh, with double vision were collected by the clinician first seeing the patient and passed to the investigators. The investigators then assessed the patient using the algorithm. An assessment of the degree of concordance between the 'algorithm assisted' diagnosis and the 'gold standard' diagnosis, made by a consultant ophthalmologist was then carried out. The accuracy of the pre-algorithm diagnosis made by the referrer was also noted.ResultsAll patients referred with diplopia were eligible for inclusion. Fifty-one patients were assessed; six were excluded. The pre-algorithm accuracy of referrers was 24% (10/41). The algorithm assisted diagnosis was correct 82% (37/45) of the time. It correctly diagnosed: cranial nerve (CN) III palsy in 6/6, CN IV palsy in 7/8, CN VI palsy in 12/12, internuclear ophthalmoplegia in 4/4, restrictive myopathy in 4/4, media opacity in 1/1, and blurred vision in 3/3. The algorithm assisted diagnosis was wrong in 18% (8/45) of the patients.ConclusionsThe baseline diagnostic accuracy of non-ophthalmologists rose from 24 to 82% when patients were assessed using the algorithm. The improvement in the diagnostic accuracy resulting from the use of the algorithm would, hopefully, result in more accurate triage of patients with diplopia that are referred to the hospital eye service. We hope we have demonstrated its potential as a learning tool for inexperienced clinicians.

  4. Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome

    Institute of Scientific and Technical Information of China (English)

    Meng Yu; Zhe Zhang; Qing-Qing Wang; Jing Liu; Yue-Huan Zuo; Lei Yu; Jiang-Xi Xiao


    Background:Keams-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion disorder characterized by a triad of onset before 20 years of age,ophthalmoplegia,and pigmentary retinopathy.The heart and central nervous system are commonly involved.We summarized clinical and brain magnetic resonance imaging (MRI) features of a cohort of Chinese KSS patients.Methods:Nineteen patients confirmed by muscle biopsy and mtDNA analysis were enrolled.We examined clinical profiles,mainly focusing on changes in electrocardiogram (ECG) and brain MRI.The correlation between genotype and phenotype was statistically analyzed.Results:The mean age of onset was 9.6 ± 4.3 years,with all developing the classic triad at the time of diagnosis.Heart conduction block was detected in 63.2%,with four initially presenting as bundle branch block and developing into complete atrioventricular block over 3-72 months.Brain MRI showed symmetric high-T2 signals in 100% of cerebral and cerebellar white matter,as well as brainstem,46.7% of basal ganglia,and 53.3% of thalamus.There were two patterns of cerebral white matter involvements,one with selective subcortical U-fibers and the other with periventricular white matter.The size of mtDNA deletion did not significantly correlate with age of onset or percentage of ragged blue fibers on muscle pathology.Conclusions:The clinical features of KSS evolve dynamically,affecting the cardiac conduction system predominantly,highlighting the significance of ECG monitoring.Brain MRI showed changes involving both the white matter and deep gray nuclei.Clinical presentation or severity of muscle pathological changes is not related to the size of mtDNA deletions.

  5. Hematoma tegmento-mesencefálico espontâneo: aspectos neurocomportamentais do terço rostral do tronco encefálico humano Spontaneous tegmento-mesencephalic hematoma: neurobehavioral insights concerning the rostral human brainstem

    Directory of Open Access Journals (Sweden)

    Ricardo de Oliveira-Souza


    Full Text Available O tegmento do mesencéfalo é área complexa, dada a quantidade de fibras que o atravessam, provenientes de circuitos locais, de sistemas ativadores ascendentes e de feixes descendentes dos hemisférios cerebrais. No presente artigo, relatamos o caso de um senhor de 67 anos, que sofreu hemorragia mesencefálica de localização tegmental, vindo a falecer 1 mês depois. Inicialmente, foi julgado em coma, por apresentar ptose bilateral, ausência de fala e de movimentos espontâneos. Por volta da segunda semana, descobriu-se que podia cumprir comandos verbais, sentar, sustentar-se de pé e andar. O caso demonstra o quanto o diagnóstico do coma em bases clínicas pode ser enganoso em pacientes como esse, no qual a aparente irresponsividade de olhos fechados se deve à combinação inesperada de abulia e oftalmoplegia.The tegmentum of the midbrain is a complex area traversed by a number of anatomical and functional systems, including local circuits, ascending activating systems and descending fibers from the cerebral hemispheres. In the present paper we report on the case of a 67-year-old man who suffered a spontaneous central tegmental hemorrhage and was initially supposed to be in coma due to bilateral ptosis and lack of speech and initiative. By the second hospital week, however, he was shown to be able to respond to verbal commands, sit, stand and walk. He died in sepsis one month later. This case shows that the clinical diagnosis of coma may be misleading in certain patients in whom wakefulness is preserved, though concealed from a casual bedside examination due to abulia and ophthalmoplegia.

  6. Multi-minicore Disease

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    Jungbluth Heinz


    Full Text Available Abstract Multi-minicore Disease (MmD is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown. Marked clinical variability corresponds to genetic heterogeneity: the most instantly recognizable classic phenotype characterized by spinal rigidity, early scoliosis and respiratory impairment is due to recessive mutations in the selenoprotein N (SEPN1 gene, whereas recessive mutations in the skeletal muscle ryanodine receptor (RYR1 gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD. In the latter forms, there may also be a histopathologic continuum with CCD due to dominant RYR1 mutations, reflecting the common genetic background. Pathogenetic mechanisms of RYR1-related MmD are currently not well understood, but likely to involve altered excitability and/or changes in calcium homeoestasis; calcium-binding motifs within the selenoprotein N protein also suggest a possible role in calcium handling. The diagnosis of MmD is based on the presence of suggestive clinical features and multiple cores on muscle biopsy; muscle MRI may aid genetic testing as patterns of selective muscle involvement are distinct depending on the genetic background. Mutational analysis of the RYR1 or the SEPN1 gene may provide genetic confirmation of the diagnosis. Management is mainly supportive and has to address the risk of marked respiratory impairment in SEPN1-related MmD and the possibility of malignant hyperthermia susceptibility in RYR1-related forms. In the majority of patients, weakness is static or only slowly progressive, with the degree of respiratory impairment being the most important prognostic factor.

  7. Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

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    Ruben Attali

    Full Text Available We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle weakness. Absence of cores was noted in all patients. Genome wide linkage analysis revealed a single locus on chromosome 19q13 with Zmax = 3.86 at θ = 0.0 and homozygosity of the polymorphic markers at this locus in patients. Direct sequencing of the main candidate gene within the candidate region, RYR1, was performed. A novel homozygous A to G nucleotide substitution (p.Y3016C within exon 60 of the RYR1 gene was found in patients. ARMS PCR was used to screen for the mutation in all available family members and in an additional 150 healthy individuals. This procedure confirmed sequence analysis and did not reveal the A to G mutation (p.Y3016C in 300 chromosomes from healthy individuals. Functional analysis on EBV immortalized cell lines showed no effect of the mutation on RyR1 pharmacological activation or the content of intracellular Ca(2+ stores. Western blot analysis demonstrated a significant reduction of the RyR1 protein in the patient's muscle concomitant with a reduction of the DHPRα1.1 protein. This novel mutation resulting in RyR1 protein decrease causes heterogeneous clinical presentation, including slow progression course and absence of centrally localized cores on muscle biopsy. We suggest that RYR1 related myopathy should be considered in a wide variety of clinical and pathological presentation in childhood myopathies.

  8. Mitochondrial DNA heteroplasmy dynamics in a kindred harboring a novel pathogenic mutation in the mitochondrial tRNA glutamate gene

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    Moraes, C.T.; Hao, H. [Univ. of Miami, FL (United States); Bonilla, E.; DiMauro, S.


    We have identified a novel mitochondrial DNA (mtDNA) mutation in a 32-year-old male with a myopathy (without progressive external ophthalmoplegia) and mild pyramidal involvement. This A{yields}G transition at mtDNA position 14709 alters an evolutionary conserved nucleotide in a region coding for the anticodon loop of the mitcohondrial tRNA{sup Glu}. The 14709 mtDNA mutation was heteroplasmic but present at very high levels in the patient`s muscle (95%), white blood cells (81%) and hair follicles (90%). The same mutant mtDNA population was observed in white blood cells and hair follicles of all maternal relatives, but a lesser percentage (25-80%). The patient`s muscle showed many ragged-red fibers and a severe focal defect in cytochrome c oxidase activity, accompanied by the absence of cross-reacting material for mitochondrially synthesized polypeptides (ND 1 and COX II). The percentage of mutant mtDNA was not preferentially increased over two generations. Rather, the percentage of mutant mtDNA observed in siblings seemed to follow a normal distribution around the percentage observed in their mothers. Single hair PCR/RFLP analysis showed that the intercellular fluctuation in the percentage of mutant mtDNA differs among family members. Younger generations tend to have a more homogeneous distribution of mutant mtDNA in different hair follicles. The highest degree of variability between individual hair follicles was observed in the patient`s grandmother. These results suggest that the intercellular distribution of the mutant and wild-type mtDNA populations may drift towards homogeneity in subsequent generations.

  9. Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. (United States)

    Fontanesi, Flavia; Palmieri, Luigi; Scarcia, Pasquale; Lodi, Tiziana; Donnini, Claudia; Limongelli, Anna; Tiranti, Valeria; Zeviani, Massimo; Ferrero, Iliana; Viola, Anna Maria


    Autosomal dominant and recessive forms of progressive external ophthalmoplegia (adPEO and arPEO) are mitochondrial disorders characterized by the presence of multiple deletions of mitochondrial DNA in affected tissues. Four adPEO-associated missense mutations have been identified in the ANT1 gene. In order to investigate their functional consequences on cellular physiology, we introduced three of them at equivalent positions in AAC2, the yeast orthologue of human ANT1. We demonstrate here that expression of the equivalent mutations in aac2-defective haploid strains of Saccharomyces cerevisiae results in (a) a marked growth defect on non-fermentable carbon sources, and (b) a concurrent reduction of the amount of mitochondrial cytochromes, cytochrome c oxidase activity and cellular respiration. The efficiency of ATP and ADP transport was variably affected by the different AAC2 mutations. However, irrespective of the absolute level of activity, the AAC2 pathogenic mutants showed a significant defect in ADP versus ATP transport compared with wild-type AAC2. In order to study whether a dominant phenotype, as in humans, could be observed, the aac2 mutant alleles were also inserted in combination with the endogenous wild-type AAC2 gene. The heteroallelic strains behaved as recessive for oxidative growth and petite-negative phenotype. In contrast, reduction in cytochrome content and increased mtDNA instability appeared to behave as dominant traits in heteroallelic strains. Our results indicate that S. cerevisiae is a suitable in vivo model to study the pathogenicity of the human ANT1 mutations and the pathophysiology leading to impairment of oxidative phosphorylation and damage of mtDNA integrity, as found in adPEO.

  10. Dural cavernous sinus fistulas. Diagnostic and endovascular therapy

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    Benndorf, Goetz [Baylor College of Medicine, Houston, TX (United States). Dept. of Radiology; Ben Taub General Hospital, Houston, TX (United States). Interventional Neuroradiology


    Dural cavernous sinus fistulas (DCSFs) represent a benign vascular disease, consisting in an arteriovenous shunt at the cavernous sinus. In the absence of spontaneous resolution, the fistula may lead to eye redness, swelling, proptosis, chemosis, ophthalmoplegia and visual loss. Although modern imaging techniques have improved the diagnostic, patients with low-flow DCSFs are still misdiagnosed. These patients can get erroneously treated for infections and inflammation for months or years and are at risk of visual loss. Early and proper diagnosis helps to avoid deleterious clinical course of the disease. This volume provides a complete guide to clinical and radiological diagnosis as well as to therapeutic management of DCSF with emphasis on modern minimal invasive treatment options. It commences with an informative description of relevant anatomy. After sections on the classification, etiology and pathogenesis of DCSF, the clinical symptomatology of the disease is described in detail. The role of modern non-invasive imaging tools is then addressed with the use of computed tomography, magnetic resonance imaging and ultrasound. Intra-arterial digital subtraction angiography (DSA), although invasive, remains the gold standard and is mandatory for clinical decision-making and strategy in endovascular treatment. Hence, a throughout consideration is given to both, 2D-DSA and 3D rotational angiography, including recent technological advancements such as Dual Volume (DV) imaging and angiographic computed tomography (ACT). After a short section on arteriovenous hemodynamics, the therapeutic management of DCSFs is described in detail. In particular, various transvenous techniques, required for successful endovascular occlusion of DCSF, are discussed in depth. This well-illustrated volume will be invaluable to all who may encounter DCSF in their clinical practice. (orig.)

  11. Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics (United States)


    Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of symptoms typically occurs in adulthood; however, a minority of patients develop clinical features in adolescence. The incidence of ADCA Type III is unknown. ADCA Type III consists of six subtypes, SCA5, SCA6, SCA11, SCA26, SCA30, and SCA31. The subtype SCA6 is the most common. These subtypes are associated with four causative genes and two loci. The severity of symptoms and age of onset can vary between each SCA subtype and even between families with the same subtype. SCA5 and SCA11 are caused by specific gene mutations such as missense, inframe deletions, and frameshift insertions or deletions. SCA6 is caused by trinucleotide CAG repeat expansions encoding large uninterrupted glutamine tracts. SCA31 is caused by repeat expansions that fall outside of the protein-coding region of the disease gene. Currently, there are no specific gene mutations associated with SCA26 or SCA30, though there is a confirmed locus for each subtype. This disease is mainly diagnosed via genetic testing; however, differential diagnoses include pure cerebellar ataxia and non-cerebellar features in addition to ataxia. Although not fatal, ADCA Type III may cause dysphagia and falls, which reduce the quality of life of the patients and may in turn shorten the lifespan. The therapy for ADCA Type III is supportive and includes occupational and speech modalities. There is no cure for ADCA Type III, but a number of recent studies have highlighted novel therapies, which bring hope for future curative treatments. PMID:23331413


    Directory of Open Access Journals (Sweden)

    M. Ghaffarpour


    Full Text Available Brucellosis is an endemic disease in our country. Neurobrucellosis occurs in 5 to 10% of cases, and can present at any stage of of the disease. This study was undertaken to evaluate clinical, epidemiological and paraclinical aspects of brucellosis with and without neurological manifestations. Data of 30 patients, 15 cases with nervous system involvement (neurobrucellosis and 15 cases without neurological complication (brucellosis were collected and analyzed. Constitutional manifestations of the disease were detected with nearly the same frequencies in both groups. Exceptions were headache which was more common in patients with neurobrucellosis (73% vs. 33% and arthralgia which was detected more frequently in cases with brucellosis than neurobrucellosis (53% vs. 13%. Signs and symptoms of meningeal irritation and disturbances of consciousness were the most common manifestations in cases with neurobrullosis, which had been detected in 60% and 46.7% of cases, respectively. Less common neurological presentations, in decreasing order of frequency were ophthalmoplegia, papilledema and seizures, spastic weakness of limbs, hearing loss and spinal epidural abscess. In two patients with negative serum and CSF agglutinin test, diagnosis of neurobrucellosis was made by blood and CSF cultures. In patients with neurobrucellosis, MRI of brain and spinal cord showed abnormalities in 5/15(33.3% of cases, including decreased lateral ventricular volume due to brain swelling (2/15, hydrocephalus with periventricular edema and meningeal enhancement in posterior fossa (1/15, multiple hypodense periventricular lesions, ischemic or demyelinating in nature (1/15 and spinal epidural abscess (1/15. Brucellosis should be kept in mind in patients with neurological presentations.

  13. Mutational analysis of the human mitochondrial genome branches into the realm of bacterial genetics

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    Howell, N. [Univ. of Texas Medical Branch, Galveston, TX (United States)


    This is shaping up as a vintage year for studies of the genetics and evolution of the human mitochondrial genome (mtDNA). In a theoretical and experimental tour de force, Shenkar et al. (1996), on pages 772-780 of this issue, derive the mutation rate of the 4,977-bp (or {open_quotes}common{close_quotes}) deletion in the human mtDNA through refinement and extension of fluctuation analysis, a technique that was first used >50 years ago. Shenkar et al., in essence, have solved or bypassed many of the difficulties that are inherent in the application of fluctuation analysis to human mitochondrial gene mutations. Their study is important for two principal reasons. In the first place, high levels of this deletion cause a variety of pathological disorders, including Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. Their current report, therefore, is a major step in the elucidation of the molecular genetic pathogenesis of this group of mitochondrial disorders. For example, it now may be feasible to analyze the effects of selection on transmission and segregation of this deletion and, perhaps, other mtDNA mutations as well. Second, and at a broader level, the approach of Shenkar et al. should find widespread applicability to the study of other mtDNA mutations. It has been recognized for several years that mammalian mtDNA mutates much more rapidly than nuclear DNA, a phenomenon with potentially profound evolutionary implications. It is exciting and useful, both experimentally and theoretically, that this {open_quotes}old{close_quotes} approach can be used for {open_quotes}new{close_quotes} applications. 56 refs.

  14. Enxaqueca oftalmoplégica: relato de caso Ophthalmoplegic migraine: case report

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    Paulo Hélio Monzillo


    Full Text Available A enxaqueca oftalmoplégica (EO é entidade clínica extremamente rara e de etiologia controversa, caracterizada por crises recorrentes de cefaléia unilateral fixa (sem alternância de lado, associadas a paresia de um ou mais nervos oculomotores (III, IV ou VI homolaterais à dor. Descreve-se o caso de uma paciente com diagnóstico de enxaqueca oftalmoplégica de acordo com os critérios estabelecidos pela International Headache Society (IHS-2004, com aspectos clínicos e idade de início dos sintomas, não usuais. Ao contrário das descrições da literatura, a primeira crise ocorreu na idade adulta. Houve troca de lado num dos episódios e no último evento ocorreu apenas a manifestação ocular sem cefaléia. Em virtude do diagnóstico de enxaqueca oftalmoplégica ser sempre de exclusão, abordamos outras causas de oftalmoplegia dolorosa a serem afastadas por meio de investigação apropriada.Ophthalmoplegic migraine is a rare syndrome in which episodic fixed unilateral headaches are associated with ipsilateral ophthalmoplegia. Its physiopathology remains obscure. We describe a case in a patient with ophthalmoplegic migraine diagnosed according to the International Headache Society (IH-2004 criteria, who showed an unusual clinical presentation. The first ophthalmoplegic migraine episode occurred in adult life. Pain side changed in one episode. Oculomotor abnormalities were painless during the last crisis. Since diagnosis is made by exclusion, differential diagnosis and need for etiologic investigation are discussed.

  15. Wernicke–Korsakoff syndrome

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    Yu. P. Sivolap


    Full Text Available Wernicke’s encephalopathy and Korsakoff’s psychosis are the acute and chronic phases of Wernicke–Korsakov syndrome, a neurodegenerative process that is caused by thiamine deficiency and predominantly develops in persons with severe alcohol problems. In accordance with classical descriptions, Wernicke’s encephalopathy is manifested by a triad of the following major symptoms: ophthalmoplegia (or nystagmus, ataxia, and clouding of consciousness. The predominance of the subtle forms of Wernicke’s encephalopathy, which hinders its timely recognition and treatment, presents a serious problem. When left untreated, Wernicke’s encephalopathy is characterized by a high risk for a fatal outcomeand transition from acute reversible disorders to chronic irreversible cerebral structural changes associated with the occurrence of memory consolidation. The main manifestation of Korsakoff’s syndrome is the absence of or significant reduction in the ability to store new information with the relative preservation of other psychic functions. Effective care for patients with Wernicke’s encephalopathy and prevention of Korsakoff’s psychosis require that high-dose thiamine should be administered parenterally in good time. Alpha-lipoic acid along with thiamine is used in the treatment of polyneuropathy accompanied by Wernicke–Korsakoff syndrome. Untreated Wernicke’s encephalopathy is considered to lead to Korsakoff’s psychosis in above 80% of cases and to death in almost 15–20%. There is complete recovery from Korsakoff’s psychosis in approximately 20% of cases; with the lapse of time there may be a significant recovery of cognitive functions in 25% of cases.

  16. [A case of Wernicke-Korsakoff syndrome with dramatic improvement in consciousness immediately after intravenous infusion of thiamine]. (United States)

    Kikuchi, A; Chida, K; Misu, T; Okita, N; Nomura, H; Konno, H; Takase, S; Takeda, A; Itoyama, Y


    A 68-year-old man was hospitalized on March 4, 1998 for disturbances in consciousness. In 1995, he had received proximal subtotal gastrectomy and reconstructive surgery of the jejunal interposition for gastric cancer. Thereafter he had been taking enough food without the habit of taking liquor. In October 1997, his short term memory was becoming gradually worse. On February 12, 1998, he suffered from numbness in the feet, and then dysphagia, unsteady gait, and diplopia developed gradually. On February 26, brain MRI showed no abnormalities. On March 3, he had a fever of 38.5 degrees C and his consciousness became unclear. Neurological examination revealed semi-coma, total ophthalmoplegia, and absence of doll's eye movement. Deep tendon reflexes were absent. The serum thiamine level was 9 ng/ml (normal range: 20-50). Brain MRI demonstrated symmetrical high intensity lesions in the periaqueductal area of the midbrain, dorsomedial nuclei of bilateral thalami, and vestibular nuclei. About 30 seconds after intravenous infusion of thiamine, his consciousness improved dramatically, but returned to semi-coma after about two minutes. Wernicke-Korsakoff syndrome usually occurs acutely. In the present case, however, the disease showed slow onset, chronic progression, and then rapid worsening after fever. Reconstructive surgery of the jejunal interposition might have caused the slow onset of Wernicke-Korsakoff syndrome, and fever might have facilitated the rapid progression of the disease. An immediate high concentration of thiamine modifies the kinetics of acetylcholine receptor ion channels, thereby maintaining wakefulness, and the level of consciousness may change dramatically.

  17. Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases

    Institute of Scientific and Technical Information of China (English)

    Yusuke Sekino; Masahiko Inamori; Eiji Yamada; Hidenori Ohkubo; Eiji Sakai; Takuma Higurashi; Hiroshi Iida


    AIM:To reveal the frequency,characteristics and prognosis of chronic intestinal pseudo-obstruction (CIP) in mitochondrial disease patients.METHODS:Between January 2000 and December 2010,31 patients (13 males and 18 females) were diagnosed with mitochondrial diseases at our hospital.We conducted a retrospective review of the patients'sex,subclass of mitochondrial disease,age at onset of mitochondrial disease,frequency of CIP and the age at its onset,and the duration of survival.The age at onset or at the first diagnosis of the disorder that led to the clinical suspicion of mitochondrial disease was also examined.RESULTS:Twenty patients were sub-classified with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS),8 with' chronic progressive external ophthalmoplegia (CPEO),and 3 with myoclonus epilepsy associated with ragged-red fibers (MERRF).Nine patients were diagnosed with CIP,8 of the 20 (40.0%) patients with MELAS,0 of the 8 (0.0%)patients with CPEO,and 1 of the 3 (33.3%) patients with MERRF.The median age (range) at the diagnosis and the median age at onset of mitochondrial disease were 40 (17-69) and 25 (12-63) years in patients with CIP,and 49 (17-81) and 40 (11-71) years in patients without CIP.During the survey period,5 patients (4 patients with MELAS and 1 with CPEO) died.The cause of death was cardiomyopathy in 2 patients with MELAS,cerebral infarction in 1 patient with MELAS,epilepsy and aspiration pneumonia in 1 patient with MELAS,and multiple metastases from gastric cancer and aspiration pneumonia in 1 patient with CPEO.CONCLUSION:Patients with CIP tend to have disorders that are suspected to be related to mitochondrial diseases at younger ages than are patients without CIP.

  18. Diffusion tensor analysis of corpus callosum in progressive supranuclear palsy

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    Ito, Shoichi; Makino, Takahiro; Shirai, Wakako; Hattori, Takamichi [Department of Neurology, Graduate School of Medicine, Chiba University (Japan)


    Progressive supranuclear palsy (PSP) is a neurodegenerative disease featuring parkinsonism, supranuclear ophthalmoplegia, dysphagia, and frontal lobe dysfunction. The corpus callosum which consists of many commissure fibers probably reflects cerebral cortical function. Several previous reports showed atrophy or diffusion abnormalities of anterior corpus callosum in PSP patients, but partitioning method used in these studies was based on data obtained in nonhuman primates. In this study, we performed a diffusion tensor analysis using a new partitioning method for the human corpus callosum. Seven consecutive patients with PSP were compared with 29 age-matched patients with Parkinson's Disease (PD) and 19 age-matched healthy control subjects. All subjects underwent diffusion tensor magnetic resonance imaging, and the corpus callosum was partitioned into five areas on the mid-sagittal plane according to a recently established topography of human corpus callosum (CC1-prefrontal area, CC2-premotor and supplementary motor area, CC3-motor area, CC4-sensory area, CC5-parietal, temporal, and occipital area). Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were measured in each area and differences between groups were analyzed. In the PSP group, FA values were significantly decreased in CC1 and CC2, and ADC values were significantly increased in CC1 and CC2. Receiver operating characteristic analysis showed excellent reliability of FA and ADC analyses of CC1 for differentiating PSP from PD. The anterior corpus callosum corresponding to the prefrontal, premotor, and supplementary motor cortices is affected in PSP patients. This analysis can be an additional test for further confirmation of the diagnosis of PSP.

  19. Persistent threat of lead: medical and sociological issues

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    Needleman, H.L.


    Lead exposure is an ancient malady. Its history serves as a useful paradigm through which to understand many other pollutants that our technological society has inserted into the human environment and may guide preventive steps for other agents. Lead poisoning was first recognized in workers exposed to high doses. The discovery of childhood toxicity occurred a century ago in Australia, when children with striking symptoms of paralysis, ophthalmoplegia, or meningitis were found to be highly lead exposed. Encephalopathy generally occurs at blood lead levels of 80 micrograms/dL or more, but unequivocal brain damage has been demonstrated at doses well below this level. At lower doses, the neurocognitive effects of lead are expressed as diminished psychometric intelligence, attention deficits, conduct problems, alterations in the electroencephalogram, school failure, and increased referral rates for special needs. Careful epidemiologic studies, which have controlled for the important confounders, have set the effect level at 10-15 micrograms/dL. Elegant animal studies in which confounding is not an issue have confirmed these findings. Although blood lead levels in the population have dropped over time for a number of reasons, there are some 3-4 million American children with blood lead levels of more than 15 micrograms/dL. Biochemical and functional changes have been demonstrated in the heme biosynthetic pathway and in the renal, cardiovascular, endocrine, immune, and nervous systems. The threshold for effect depends on the sensitivity of the methods used. A no-effect level has not been found. Further, this is not a disease of the poor alone. But the poor are exposed to much more lead than are the more economically favored. Deficiencies in body calcium, zinc, iron, and protein stores are associated with increased uptake. Optimizing nutrition enhances the resistance to lead. 110 references.

  20. Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report. (United States)

    Saad, Laura; Silva, Luiz Fal; Banzato, Claudio Em; Dantas, Clarissa R; Garcia, Celso


    Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been an increase in the number of clinical settings in which the disorder is observed. We report the case of a 45-year-old Caucasian woman who arrived at the emergency room presenting signs of marked malnutrition and mental confusion, ataxic gait and ophthalmoplegia. Main laboratory test findings included low serum magnesium and megaloblastic anemia. Brain magnetic resonance imaging revealed increased T2 signal in the supratentorial paraventricular region, the medial regions of the thalamus and the central and periaqueductal midbrain. The diagnosis of Wernicke's encephalopathy was made at once and immediate reposition of thiamine and magnesium was started. The patient had a long history of recurrent thoughts of being overweight, severe self-imposed diet restrictions and self-induced vomiting. She had also been drinking gin on a daily basis for the last eight years. One day after admittance the acute global confusional state resolved, but she presented severe memory deficits and confabulation. After six months of outpatient follow-up, memory deficits remained unaltered. In this case, self-imposed long-lasting nutritional deprivation is thought to be the main cause of thiamine deficiency and subsequent encephalopathy, but adjunct factors, such as magnesium depletion and chronic alcohol misuse, might have played an important role, especially in the development of Korsakoff's syndrome. The co-morbidity between eating disorders and substance abuse disorders has emerged as a significant health issue for women, and the subgroup of patients with

  1. Imaging-Based Diagnosis of Wernicke Encephalopathy: a Case Report

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    Delavar Kasmaei


    Full Text Available Introduction Wernicke encephalopathy (WE is a medical emergency characterized by ataxia, confusion, nystagmus and ophthalmoplegia resulting from thiamin deficiency. Alcoholism is the common cause for this disease. Case Presentation A 41 year old man was brought to our emergency department (ED complaining of confusion. One week earlier he had started to experience severe nausea and vomiting followed by diplopia, dysarthria and also dysphagia. One day later he had experienced gait disturbance and progressive ataxia accompanied with confusion, apathy and disorientation. He had no history of alcoholism, drug abuse or previous surgery but had history of untreated Crohn disease. Just before arrival to our emergency department, he had been hospitalized in another center for about a week but all investigations had failed to provide a conclusive diagnosis. Upon admission to our ED, he was dysarthric and replied with inappropriate answers. On physical examination, bilateral horizontal nystagmus in lateral gaze, left abducens nerve palsy and upward gaze palsy were seen. Gag reflex was absent and plantar reflexes were upwards bilaterally. After reviewing all the previously performed management measures, MRI was performed and was consistent with the diagnosis of WE. Treatment with thiamine led to partial resolution of his upward gaze palsy and nystagmus on the first day. At the end of the third day of treatment, except for gate ataxia, all other symptoms completely resolved and he was fully conscious. After the fifth day his gait became normal and after one week he was discharged in good general condition. Conclusions After reviewing the current literature, it seems that brain MRI can be helpful in the diagnosis of WE in patients with the classic clinical trial in the absence of clear risk factors.

  2. Pituitary apoplexy: clinical features, management and outcome. Clinical study and review of the literature

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    Solomon Adriana Elena


    Full Text Available Background: Pituitary apoplexy is a clinical syndrome secondary to rapid expansion of the content of the sella and extension to suprasellar region, cavernous sinus, sphenoid sinus secondary to a bleeding, ischemic or mixed episode taking place in a pituitary adenoma. This episode will determine a significant compression of the optic nerves, optic chiasm, cavernous sinus and hypothalamus, which translates clinically most often by headache, visual disturbances, deceased level of consciousness and ophthalmoplegia. Material and methods: This paper presents a retrospective study over a period of five years, from January 2009 to December 2013 and includes 98 patients diagnosed with pituitary apoplexy and treated in the Third Department of Neurosurgery, Emergency Clinical Hospital Bagdasar-Arseni. Of the 98 patients, 62 were females (63.3 % and 36 were males (36.7 % with a ratio of female to male of 1.7:1. The patients were aged between 17 and 75 years old, average age being approximately 50 years. Follow-up period ranged from 2 months to 5 years. The main symptomsat presentation was sudden, intense headache, this symptom was encountered in 90 patients (91.83%, vomiting showed by 76 patients (77.55%, decreased visual acuity observed in 57 patients (58.16%, visual field deficits in 74 patients (75.51%, cranial nerves palsy (III, IV, VI observed in 14 patients (14.28 %. Conclusions: Pituitary apoplexy is a disease that can endanger patients' lives. The clinical presentation may vary from minor symptoms to major neurological deficits and even death so early diagnosis and treatment are vital.

  3. Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

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    Hélio A. G. Teive


    Full Text Available OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS: We studied 150 patients from 104 families with spinocerebellar ataxias who had received molecular genetic testing for spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 10, 12, 17, and dentatorubral-pallidoluysian atrophy. A statistical analysis of the results was performed using basic descriptive statistics and the correlation coefficient (r, Student's t-test, chi-square test, and Yates' correction. The statistical significance level was established for p-values <0.05. RESULTS: The results show that the most common subtype was spinocerebellar ataxia 3, which was followed by spinocerebellar ataxia 10. Moreover, the comparison between patients with spinocerebellar ataxia 3, spinocerebellar ataxia 10, and other types of spinocerebellar ataxia revealed distinct clinical features for each type. In patients with spinocerebellar ataxia 3, the phenotype was highly pleomorphic, although the most common signs of disease included cerebellar ataxia (CA, ophthalmoplegia, diplopia, eyelid retraction, facial fasciculation, pyramidal signs, and peripheral neuropathy. In patients with spinocerebellar ataxia 10, the phenotype was also rather distinct and consisted of pure cerebellar ataxia and abnormal saccadic eye movement as well as ocular dysmetria. Patients with spinocerebellar ataxias 2 and 7 presented highly suggestive features of cerebellar ataxia, including slow saccadic ocular movements and areflexia in spinocerebellar ataxia 2 and visual loss in spinocerebellar ataxia 7. CONCLUSIONS: Spinocerebellar ataxia 3 was the most common subtype examined, followed by spinocerebellar ataxia 10. Patients with spinocerebellar

  4. Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy

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    A.C. Gimenes


    Full Text Available Exercise intolerance due to impaired oxidative metabolism is a prominent symptom in patients with mitochondrial myopathy (MM, but it is still uncertain whether L-carnitine supplementation is beneficial for patients with MM. The aim of our study was to investigate the effects of L-carnitine on exercise performance in MM. Twelve MM subjects (mean age±SD=35.4±10.8 years with chronic progressive external ophthalmoplegia (CPEO were first compared to 10 healthy controls (mean age±SD=29±7.8 years before they were randomly assigned to receive L-carnitine supplementation (3 g/daily or placebo in a double-blind crossover design. Clinical status, body composition, respiratory function tests, peripheral muscle strength (isokinetic and isometric torque and cardiopulmonary exercise tests (incremental to peak exercise and at 70% of maximal, constant work rate (CWR exercise test, to the limit of tolerance [Tlim] were assessed after 2 months of L-carnitine/placebo administration. Patients with MM presented with lower mean height, total body weight, fat-free mass, and peripheral muscle strength compared to controls in the pre-test evaluation. After L-carnitine supplementation, the patients with MM significantly improved their Tlim (14±1.9 vs 11±1.4 min and oxygen consumption (V˙O2 at CWR exercise, both at isotime (1151±115 vs 1049±104 mL/min and at Tlim (1223±114 vs 1060±108 mL/min. These results indicate that L-carnitine supplementation may improve aerobic capacity and exercise tolerance during high-intensity CWRs in MM patients with CPEO.

  5. Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy. (United States)

    Gimenes, A C; Bravo, D M; Nápolis, L M; Mello, M T; Oliveira, A S B; Neder, J A; Nery, L E


    Exercise intolerance due to impaired oxidative metabolism is a prominent symptom in patients with mitochondrial myopathy (MM), but it is still uncertain whether L-carnitine supplementation is beneficial for patients with MM. The aim of our study was to investigate the effects of L-carnitine on exercise performance in MM. Twelve MM subjects (mean age±SD=35.4±10.8 years) with chronic progressive external ophthalmoplegia (CPEO) were first compared to 10 healthy controls (mean age±SD=29±7.8 years) before they were randomly assigned to receive L-carnitine supplementation (3 g/daily) or placebo in a double-blind crossover design. Clinical status, body composition, respiratory function tests, peripheral muscle strength (isokinetic and isometric torque) and cardiopulmonary exercise tests (incremental to peak exercise and at 70% of maximal), constant work rate (CWR) exercise test, to the limit of tolerance [Tlim]) were assessed after 2 months of L-carnitine/placebo administration. Patients with MM presented with lower mean height, total body weight, fat-free mass, and peripheral muscle strength compared to controls in the pre-test evaluation. After L-carnitine supplementation, the patients with MM significantly improved their Tlim (14±1.9 vs 11±1.4 min) and oxygen consumption ( V ˙ O 2 ) at CWR exercise, both at isotime (1151±115 vs 1049±104 mL/min) and at Tlim (1223±114 vs 1060±108 mL/min). These results indicate that L-carnitine supplementation may improve aerobic capacity and exercise tolerance during high-intensity CWRs in MM patients with CPEO.

  6. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. (United States)

    Thompson, Kyle; Majd, Homa; Dallabona, Christina; Reinson, Karit; King, Martin S; Alston, Charlotte L; He, Langping; Lodi, Tiziana; Jones, Simon A; Fattal-Valevski, Aviva; Fraenkel, Nitay D; Saada, Ann; Haham, Alon; Isohanni, Pirjo; Vara, Roshni; Barbosa, Inês A; Simpson, Michael A; Deshpande, Charu; Puusepp, Sanna; Bonnen, Penelope E; Rodenburg, Richard J; Suomalainen, Anu; Õunap, Katrin; Elpeleg, Orly; Ferrero, Ileana; McFarland, Robert; Kunji, Edmund R S; Taylor, Robert W


    Mutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions, whereas recessive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy. Here, we describe the identification by whole-exome sequencing of seven probands harboring dominant, de novo SLC25A4 mutations. All affected individuals presented at birth, were ventilator dependent and, where tested, revealed severe combined mitochondrial respiratory chain deficiencies associated with a marked loss of mitochondrial DNA copy number in skeletal muscle. Strikingly, an identical c.239G>A (p.Arg80His) mutation was present in four of the seven subjects, and the other three case subjects harbored the same c.703C>G (p.Arg235Gly) mutation. Analysis of skeletal muscle revealed a marked decrease of AAC1 protein levels and loss of respiratory chain complexes containing mitochondrial DNA-encoded subunits. We show that both recombinant AAC1 mutant proteins are severely impaired in ADP/ATP transport, affecting most likely the substrate binding and mechanics of the carrier, respectively. This highly reduced capacity for transport probably affects mitochondrial DNA maintenance and in turn respiration, causing a severe energy crisis. The confirmation of the pathogenicity of these de novo SLC25A4 mutations highlights a third distinct clinical phenotype associated with mutation of this gene and demonstrates that early-onset mitochondrial disease can be caused by recurrent de novo mutations, which has significant implications for the application and analysis of whole-exome sequencing data in mitochondrial disease. Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.

  7. Pituitary Apoplexy Presented with Optic Neuritis

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    Mahsa Owji


    Full Text Available The patient is a 40-years-old woman presented with visual loss in the right eye since two days ago. The patient complained of headache with gradual onset in the right parietal area since 2 years ago. The headache pattern did not alter.The left eye was normal but the vision in the right eye was 50 cm finger counting. Marcus Gunn pupil could be observed during swinging-flashlight test in the right eye. According to these findings, the first diagnosis was optic neuritis which was corroborated with visual evoked potential (the latency of P100 was 122. According to magnetic resonance imaging (MRI, there was a big cystic tumor in sella turcica extended to the suprasellar region (Figure 1-A. It had a large liquid component. Optic chiasm was under pressure and was displaced (Figure 1-B. A faint enhancement was seen after the injection (Figure 1-C.The patient was operated with the transnasal-transsphenoidal approach. Blood and fibrin were among the small monomorphic round cells andfibro-connective tissue of the pituitary gland. Considering the bleeding inside the pituitary tumor, the final diagnosis was pituitary apoplexy. After recovery from the operation the symptoms were removed.Pituitary apoplexy presents with headache, loss of vision, ophthalmoplegia, and mental alterations which is caused by infarction or sudden bleeding inside the pituitary tumor.1In our review of literature, 3 patients afflicted with pituitary apoplexy presented with optic neuritis were reported.In a study conducted by Petersen et al., all three patients referred to them suffered from unilateral visual loss and headache. They were examined with the early diagnosis of optic neuritis. After taking a Brain Computerized tomography (CT scan, pituitary adenoma together with the formation of cyst were detected in patients. After transsphenoidal adenomectomy, the patient regained full vision. Therefore, the correct diagnosis of these patients, who had been incorrectly diagnosed with

  8. Sphenoid wing meningioma en plaque: report of 37 cases

    Institute of Scientific and Technical Information of China (English)

    LI Yong; SHI Ji-tong; AN Yu-zhi; ZHANG Tian-ming; FU Ji-di; ZHANG Jia-liang; ZHAO Ji-zong


    Background Sphenoid wing meningioma en plaque is a special morphological subgroup of intracranial meningiomas,defined by a carpet-like, soft tissue component that infiltrates the dura and invades the sphenoid wing and orbit associated with a significant hyperostosis. This report summarized our experiences in 37 patients with sphenoid wing meningioma en plaque who had been treated with transcranio-orbital approach surgery.Methods A retrospective study was made on clinical manifestations, neuroradiological features, and operative techniques in 37 patients undergoing transcranio-orbital approach from Sep. 1998 to Apr. 2009. Patients ages: 16 years to 67 years, 45.5 years in average; sex: 15 males, 22 females. Chief complaints were progressive proptosis and visual acuity deficits. All patients were operated on using a fronto-temporal approach with orbital decompression. The extent of tumor resection and postoperative complications were investigated.Results Simpson grade Ⅱ resection was achieved in 9 patients, Simpson grade Ⅲ in 22 patients and Simpson grade IV in 6 patients. Pathological examination showed 27 (73%) patients were meningothelial meningiomas. After surgery,proptosis improved in all patients, visual acuity improved in 18 patients (69%). Temporary ophthalmoplegia was found in 8 patients, cerebrospinal fluid leak was found in 1 patient. Duration of follow up was from 3 months to 9 years, tumor recurred in 7 patients, and 5 patients underwent second surgery, including two trans-nasal endoscopic surgeries to resect sphenoid sinus-involved tumor. There were no operation-related deaths or other significant complications.Conclusions Sphenoid wing meningioma en plaque, mainly meningothelial meningiomas, are more likely to produce adjacent hyperostosis and have characteristic radiological appearances. All the hyperostosis bone of the great wing of sphenoid bone should be removed to prevent recurrence. Extensive tumor removal with bony decompression at the

  9. A Case Presentation of a Third-Nerve Palsy as a Characteristic of Miller Fisher Syndrome

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    Trennda L. Rittenbach, OD


    Full Text Available Background: A rare clinical variant of Guillain-Barre syndrome, known as Miller Fisher syndrome (MFS, is an immunemediated neuropathy classically characterized by a triad consisting of ophthalmoplegia, ataxia, and areflexia.1,2 Although MFS is thought to be a disease of immunological basis, other pathological entities may give rise to the syndrome as well. The diagnosis of MFS relies upon clinical signs, a combination of lab tests including antibody serum, cerebrospinal fluid, and electrophysiological findings. Understanding the clinical course of MFS and its ocular components can aid in the rehabilitation and co-management of these patients. Case Report: A 79-year-old white male presented with a four day onset of double vision and an inability to walk unassisted. An examination revealed a pupil-sparing third-nerve palsy with a left eye ptosis. Due to the patient being in moderate pain throughout his entire body and presenting with an acute onset of symptoms, the patient was sent to the emergency room in the same hospital building. The patient was immediately admitted for evaluation and testing which revealed the diagnosis of MFS. Conclusions: Although a complaint of diplopia can lead to an array of diagnoses, when accompanied by an acute inability to walk, MFS should be on the list of possible causes. Although mostly a self-limiting disease, there is the possibility of progressing to respiratory failure. Knowledge of the syndrome, its clinical course, and prognosis, along with an appropriate evaluation with current laboratory testing, will lead to the proper diagnosis, treatment, and management.

  10. Modeling Pathogenic Mutations of Human Twinkle in Drosophila Suggests an Apoptosis Role in Response to Mitochondrial Defects (United States)

    Sanchez-Martinez, Alvaro; Calleja, Manuel; Peralta, Susana; Matsushima, Yuichi; Hernandez-Sierra, Rosana; Whitworth, Alexander J.; Kaguni, Laurie S.; Garesse, Rafael


    The human gene C10orf2 encodes the mitochondrial replicative DNA helicase Twinkle, mutations of which are responsible for a significant fraction of cases of autosomal dominant progressive external ophthalmoplegia (adPEO), a human mitochondrial disease caused by defects in intergenomic communication. We report the analysis of orthologous mutations in the Drosophila melanogaster mitochondrial DNA (mtDNA) helicase gene, d-mtDNA helicase. Increased expression of wild type d-mtDNA helicase using the UAS-GAL4 system leads to an increase in mtDNA copy number throughout adult life without any noteworthy phenotype, whereas overexpression of d-mtDNA helicase containing the K388A mutation in the helicase active site results in a severe depletion of mtDNA and a lethal phenotype. Overexpression of two d-mtDNA helicase variants equivalent to two human adPEO mutations shows differential effects. The A442P mutation exhibits a dominant negative effect similar to that of the active site mutant. In contrast, overexpression of d-mtDNA helicase containing the W441C mutation results in a slight decrease in mtDNA copy number during the third instar larval stage, and a moderate decrease in life span in the adult population. Overexpression of d-mtDNA helicase containing either the K388A or A442P mutations causes a mitochondrial oxidative phosphorylation (OXPHOS) defect that significantly reduces cell proliferation. The mitochondrial impairment caused by these mutations promotes apoptosis, arguing that mitochondria regulate programmed cell death in Drosophila. Our study of d-mtDNA helicase overexpression provides a tractable Drosophila model for understanding the cellular and molecular effects of human adPEO mutations. PMID:22952820

  11. Chronic Granulomatous Tolosa-Hunt Syndrome (Case Report

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    Dewa Purwa Samatra


    Full Text Available Background: Tolosa-Hunt syndrome is a rare case, characterized by tenderness, persistent around the affected eye and ophthalmoplegia /paresis caused by granulomatous inflammation in the cavernous sinus region, supra orbital or orbital fissure. Although spontaneous remission may occur, even corticosteroid therapy has a very satisfactory effect. However, relapse can occur after remission. We report a case of granulomatous Tolosa-Hunt syndrome in women aged 47 years who suffer from recurrent Tolosa-Hunt syndrome attacks for 4 years on his left eye, there was a significant recovery after receiving steroid therapy. Case:  We report A 47 years old with recurrent pain in the left eye since 4 years, pain episode duration of 1-2 weeks, accompanied by double vision when having long or short distance viewing, and when climbing stairs. The patient left eye was protruded with blurred vision and difficulty in distinguishing green color. Left eye examination vision 1/300, green color discromatopsia, normal funduscopic, ptosis, with paresis eye movement toward the superior, inferior, nasal and temporal. C-reactive protein and erythrocyte sedimentation rate were slightly elevated. ANA test was positive. In visual evoked potential, it showed latency elongation of the left face. Head MRI with contrast showed a isointense protrusion on the left cavernous sinus in axial cuts in T1 and T2. Head MRI T1 with contrast on coronal, axial cuts showed the appearance of convex lesions around the left cavernous sinus that enhanced with contrast. Conclusions: The result was clinically and radiographically diagnosed as Tolosa-Hunt Syndrome (THS. Therefore, 10 mg dexamethasone therapy, 4 times a day for 3 days was lowered to three times on day 4, 2 times on the fifth day and one time at day 6. The patient showed clinical improvement. The patient continued 48 mg oral methylprednisolone therapy up to 3 weeks which then gradually decreased and planned head MRI 3 months later.

  12. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. (United States)

    Tein, Ingrid; Elpeleg, Orly; Ben-Zeev, Bruria; Korman, Stanley H; Lossos, Alexander; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther; Vockley, Jerry; Berry, Gerard T; Lamhonwah, Anne-Marie; Matern, Dietrich; Roe, Charles R; Gregersen, Niels


    We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish origin in which group we found a c.319C>T heterozygote frequency of 1:15 suggesting the presence of a founder mutation or selective advantage. Phenotype was variable with onset from birth to early childhood. Features included hypotonia (8/10), developmental delay (8/10), myopathy (4/10) with multicore changes in two and lipid storage in one, facial weakness (3/10), lethargy (5/10), feeding difficulties (4/10) and congenital abnormalities (3/7). One female with multiminicore myopathy had progressive external ophthalmoplegia, ptosis and cardiomyopathy with pneumonia and respiratory failure. Two brothers presented with psychosis, pyramidal signs, and multifocal white matter abnormalities on MRI brain suggesting additional genetic factors. Two other infants also had white matter changes. Elevated butyrylcarnitine (4/8), ethylmalonic aciduria (9/9), methylsuccinic aciduria (6/7), decreased butyrate oxidation in lymphoblasts (2/4) and decreased SCAD activity in fibroblasts or muscle (3/3) were shown. Expression studies of c.319C>T in mouse liver mitochondria showed it to be inactivating. c.625G>A is a common variant in ACADS that may confer disease susceptibility. Five healthy parents were heterozygous for c.319C>T and c.625G>A, suggesting reduced penetrance or broad clinical spectrum. We conclude that the c.319C>T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition. This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim.

  13. Hypoparathyroidism as the first manifestation of Kearns-sayre syndrome. A case report

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    Full Text Available Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report How to Cite This Article: Ashrafzadeh F, Ghaemi N, Akhondian J, Beiraghi Toosi M, Elmi S. Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report. Iran J Child Neurol. 2013 Autumn;7(4:53-57.  ObjectiveKearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (CSF protein content above 100 mg/dL. The nature of this uncommon disease is yet to be clarified. In this paper, we report a case of Kearns-Sayre syndrome. According to the previous records, the first manifestation of Kearns-Sayre syndrome as hypoparathyroidism is uncommon and in this article, we report a case with this problem.ReferencesAshizawa T, Subramony SH. What is Kearns-Sayer syndrome after all? Arch Neurol 2001;58(7:1053-4.Barragan-Campos HM, Vallee JN, Lo D, Barrera-Ramirez CF, Argote-Greene M, Sanchez-Guerrero J, et al. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol 2005;62(5:737-42.Amemiya S, Hamamoto M, Goto Y, Komaki H, Nishino I, Nonaka I, et al. Psychosis and progressive dementia: presenting features of a mitochondriopathy. Neurology 2000;55(4:600-1.Katsanos KH, Pappas CJ, Patsouras D, Michalis LK, Kitsios G, Elisaf M, et al. Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayer syndrome. Int J Cardiol 2002;83(2:179-81.Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, et al. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 2009;15(2:200–5.Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, et al. Risk of developing a mitochondrial

  14. 垂体瘤手术及其并发症的防治%Clinical analysis of pituitary tumor operation and complication prevention

    Institute of Scientific and Technical Information of China (English)

    阳永东; 周晓坤; 杜怡庆; 王文波; 唐乐建


    Objective To retrospectively analyze and record the operation method of transsphenoidal approach for the treatment of pituitary tumors and complications,and put forward the prevention and treatment of complications strategies according to the clinical experience.Methods 256 cases of pituitary tumor patients with transsphenoidal operation resection of the tumor treatment,postoperative complications,and with Chen Longyi in 2010 reported results of a comparative analysis.Results 256 cases of patients with diabetes insipidus and cerebrospinal fluid leakage incidence was significantly lower than Chen Long-yi's Group (P < 0.01) ; other complications include water and electrolyte disorders,secondary hemorrhage,visual impairment worsened,hypothalamic function disorder,ophthalmoplegia and death,the two groups had no significant difference (P > 0.05).Conclusions More complications of pituitary tumor after operation,clinical should emphasize the operation method of operation,a clear approach,fit,and doctors should improve their own responsibility,to summarize the clinical experience,effective prevention and treatment of complications.%目的 分析经蝶入路治疗垂体瘤手术方法及并发症发生情况,提出并发症防治策略.方法 256例垂体瘤患者行经蝶入路手术切除肿瘤治疗,术后观察并发症发生情况,并与文献报道结果进行比较分析.结果 256例患者尿崩和脑脊液漏发生率明显低于文献报道(P<0.01);其他并发症包括水电解质紊乱、继发性出血、视力障碍加重、下丘脑功能紊乱、眼肌麻痹和死亡等,两组间比较差异无统计学意义(P>0.05).结论 垂体瘤手术后并发症较多,临床应强调手术操作方法、明确入路、适当填充,同时应有效防治并发症.


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    Full Text Available Pituitary apoplexy is an acute clinical condition characterized by sudden onset of headache, vomiting, visual disturbance, ophthalmoplegia and altered sensorium occurring due to infarction or haemorrhage of pituitary gland and often involving the pituita ry adenoma. Predominantly seen in non - functional adenomas and in functioning adenomas with prolactinomas having the highest risk. Patients usually present with headache, vomiting, altered sensorium, visual defect and/or endocrine dysfunction. Hemodynamic i nstability may result from adrenocorticotrophic hormone deficiency. Imaging with either CT scan or MRI is performed in suspected cases. On CT, a recent hemorrhage appears as a single or multiple hyperdense lesions with no or little contrast enhancement. MR I is useful in estimating the onset of bleeding and to show the relationship between the tumor and the surrounding structures. CT or MR Angiography is done to rule out aneurysm. Treatment is conservative and surgery is reserved for those cases with deterio rating level of consciousness or increasing visual defect. Here we present a 47 year old male who presented with history of headache and visual disturbances for 6 weeks and was evaluated with radiograph, CT and MRI. A 47 year old male patient presented to the Neurosurgical Department of Vydehi Medical College and Research Centre with history of gradual blurring of vision in the left eye for 2 months. History of diabetes or hypertension was present. The man was hemodynamically stable. Radiograph of the skull showed widening of sella with erosion of the floor. He was advised CT. CT showed widening of sella and a pituitary lesion with fluid level. MRI was advocated for further evaluation. MRI axial and coronal showed sellar and suprasellar mass with figure of e ight appearance mass suggesting pituitary mass. Hyper intense fluid level was seen suggesting bleed within the mass. Contrast MRI showed peripheral enhancement. Diagnosis of

  16. A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance. (United States)

    Webster, Richard; Maxwell, Susan; Spearman, Hayley; Tai, Kaihsu; Beckstein, Oliver; Sansom, Mark; Beeson, David


    Muscle acetylcholine receptor ion channels mediate neurotransmission by depolarizing the postsynaptic membrane at the neuromuscular junction. Inherited disorders of neuromuscular transmission, termed congenital myasthenic syndromes, are commonly caused by mutations in genes encoding the five subunits of the acetylcholine receptor that severely reduce endplate acetylcholine receptor numbers and/or cause kinetic abnormalities of acetylcholine receptor function. We tracked the cause of the myasthenic disorder in a female with onset of first symptoms at birth, who displayed mildly progressive bulbar, respiratory and generalized limb weakness with ptosis and ophthalmoplegia. Direct DNA sequencing revealed heteroallelic mutations in exon 8 of the acetylcholine receptor ε-subunit gene. Two alleles were identified: one with the missense substitution p.εP282R, and the second with a deletion, c.798_800delCTT, which result in the loss of a single amino acid, residue F266, within the M2 transmembrane domain. When these acetylcholine receptor mutations were expressed in HEK 293 cells, the p.εP282R mutation caused severely reduced expression on the cell surface, whereas p.εΔF266 gave robust surface expression. Single-channel analysis for p.εΔF266 acetylcholine receptor channels showed the longest burst duration population was not different from wild-type acetylcholine receptor (4.39 ± 0.6 ms versus 4.68 ± 0.7 ms, n = 5 each) but that the amplitude of channel openings was reduced. Channel amplitudes at different holding potentials showed that single-channel conductance was significantly reduced in p.εΔF266 acetylcholine receptor channels (42.7 ± 1.4 pS, n = 8, compared with 70.9 ± 1.6 pS for wild-type, n = 6). Although a phenylalanine residue at this position within M2 is conserved throughout ligand-gated excitatory cys-loop channel subunits, deletion of equivalent residues in the other subunits of muscle acetylcholine receptor did not

  17. POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

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    Finnilä Saara


    Full Text Available Abstract Background The c.2447G>A (p.R722H mutation in the gene POLG1 of the catalytic subunit of human mitochondrial polymerase gamma has been previously found in a few occasions but its pathogenicity has remained uncertain. We set out to ascertain its contribution to neuromuscular disease. Methods Probands from two families with probable mitochondrial disease were examined clinically, muscle and buccal epithelial DNA were analyzed for mtDNA deletions, and the POLG1, POLG2, ANT1 and Twinkle genes were sequenced. Results An adult proband presented with progressive external ophthalmoplegia, sensorineural hearing impairment, diabetes mellitus, dysphagia, a limb myopathy and dementia. Brain MRI showed central and cortical atrophy, and 18F-deoxyglucose PET revealed reduced glucose uptake. Histochemical analysis of muscle disclosed ragged red fibers and cytochrome c oxidase-negative fibers. Electron microscopy showed subsarcolemmal aggregates of morphologically normal mitochondria. Multiple mtDNA deletions were found in the muscle, and sequencing of the POLG1 gene revealed a homozygous c.2447G>A (p.R722H mutation. His two siblings were also homozygous with respect to the p.R722H mutation and presented with dementia and sensorineural hearing impairment. In another family the p.R722H mutation was found as compound heterozygosity with the common p.W748S mutation in two siblings with mental retardation, ptosis, epilepsy and psychiatric symptoms. The estimated carrier frequency of the p.R722H mutation was 1:135 in the Finnish population. No mutations in POLG2, ANT1 and Twinkle genes were found. Analysis of the POLG1 sequence by homology modeling supported the notion that the p.R722H mutation is pathogenic. Conclusions The recessive c.2447G>A (p.R722H mutation in the linker region of the POLG1 gene is pathogenic for multiple mtDNA deletions in muscle and is associated with a late-onset neurological phenotype as a homozygous state. The onset of the disease

  18. Reduced cardiac {sup 123}I-metaiodobenzylguanidine uptake in patients with spinocerebellar ataxia type 2: a comparative study with Parkinson's disease

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    De Rosa, Anna; De Leva, Maria Fulvia; Maddaluno, Gennaro; Filla, Alessandro; De Michele, Giuseppe [University Federico II, Department of Neurosciences and Reproductive and Odontostomatologic Sciences, Naples (Italy); Pappata, Sabina; Pellegrino, Teresa [National Council of Research, Institute of Biostructure and Bioimaging, Naples (Italy); Fiumara, Giovanni [Institute of Diagnostic and Nuclear Development, SDN Foundation, Naples (Italy); Carotenuto, Raffaella; Cuocolo, Alberto [University Federico II, Department of Advanced Biomedical Sciences, Naples (Italy); Petretta, Mario [University Federico II, Department of Translational Medical Sciences, Naples (Italy)


    Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia, supranuclear ophthalmoplegia, and peripheral neuropathy. Autonomic nervous system dysfunction is often present. This study evaluated the cardiac sympathetic function in patients with SCA2 using {sup 123}I-metaiodobenzylguanidine (MIBG) in comparison with patients with Parkinson's disease (PD) and control subjects. Nine patients with SCA2, nine patients with PD, and nine control subjects underwent {sup 123}I-MIBG imaging studies from which early and late heart-to-mediastinum (H/M) ratios and myocardial washout rates were calculated. Early (F = 12.3, p < 0.0001) and late (F = 16.8, p < 0.0001) H/M ratios were significantly different among groups. In controls, early and late H/M ratios (2.2 {+-} 0.12 and 2.1 {+-} 0.20) were significantly higher than in patients with SCA2 (1.9 {+-} 0.23 and 1.8 {+-} 0.20, both p < 0.05) and with patients with PD (1.7 {+-} 0.29 and 1.4 {+-} 0.35, both p < 0.001). There was also a significant difference in washout rates among groups (F = 11.7, p < 0.0001). In controls the washout rate (19.9 {+-} 9.6 %) was significantly lower (p < 0.005) than in patients with PD (51.0 {+-} 23.7 %), but not different from that in SCA2 patients (19.5 {+-} 9.4 %). In SCA2 patients, in a multivariable linear regression analysis only the Scale for the Assessment and Rating of Ataxia score was independently associated with early H/M ratio ({beta} = -0.12, p < 0.05). {sup 123}I-MIBG myocardial scintigraphy demonstrated an impairment of cardiac sympathetic function in patients with SCA2, which was less marked than in PD patients. These results suggest that {sup 123}I-MIBG cardiac imaging could become a useful tool for analysing the pathophysiology of SCA2. (orig.)

  19. Miller-Fisher综合征和Bickerstaff脑干脑炎的鉴别诊断%Differential diagnosis of Miller-Fisher syndrome and Bickerstaff brainstem encephalitis:an analysis of 5 cases

    Institute of Scientific and Technical Information of China (English)

    伍思婷; 石强


    目的:探讨Miller-Fisher综合征(MFS)和Bickerstaff脑干脑炎(BBE)的临床特点及鉴别诊断。方法回顾性分析我科收治的3例MFS和2例BBE患者的临床资料及影像学表现。结果 MFS与BBE两组患者均可以有脑神经、共济运动及腱反射异常。BBE组均有锥体束受损表现,头颅MRI异常1例;MFS组有脊神经受累表现。脑脊液检查MFS组蛋白升高3例,BBE组蛋白升高1例。肌电图MFS组示神经源性损害3例, BBE组正常;脑干听觉诱发电位MFS组正常,BBE组有听觉诱发电位异常。结论 MFS和BBE发病可能都与抗神经节苷脂( GQ1b)抗体有关,前者主要以周围神经损伤为主,后者则以中枢神经系统受损为主,鉴别诊断主要依靠影像学及肌电图检查。%Objective To explore the clinical characteristics and differential diagnosis of Miller-Fisher syn-drome (MFS) and Bickerstaff brainstem encephalitis (BBE). Methods The clinical and laboratory data of 3 patients with diagnosis of MFS (MFS group) and 2 patients with diagnosis of BBE (BBE group) were analyzed retrospectively. Results The patients of the two groups may have the clinical characteristics as ophthalmoplegia, ataxia and reflex disability. All of patients in BBE group presented with positive Babinski sign, abnormal results of MRI examinations (1 case). In MFS group, the patients showed spinal nerve involvement. CSF examination showed elevation of protein in 3 patients from MSF group and 1 patient from BBE group. Electromyography exam suggested neurogenic damage in all the patients of MSF group, but normal results in BBE group. Auditory evoked potential exam showed abnormal results in BBE group. Conclusion The pathogenesis of MFS and BBE may associate with ant-iGQ1b antibody. MFS mainly damage peripheral nerves, while BBE damage central nerves. The main identifications of BBE and MFS are image results and electromyography exam.

  20. Vertical nystagmus: clinical facts and hypotheses. (United States)

    Pierrot-Deseilligny, C; Milea, D


    The pathophysiology of spontaneous upbeat (UBN) and downbeat (DBN) nystagmus is reviewed in the light of several instructive clinical findings and experimental data. UBN due to pontine lesions could result from damage to the ventral tegmental tract (VTT), originating in the superior vestibular nucleus (SVN), coursing through the ventral pons and transmitting excitatory upward vestibular signals to the third nerve nucleus. A VTT lesion probably leads to relative hypoactivity of the drive to the motoneurons of the elevator muscles with, consequently, an imbalance between the downward and upward systems, resulting in a downward slow phase. The results observed in internuclear ophthalmoplegia suggest that the medial longitudinal fasciculus (MLF) is involved in the transmission of both upward and downward vestibular signals. Since no clinical cases of DBN due to focal brainstem damage have been reported, it may be assumed that the transmission of downward vestibular signals depends only upon the MLF, whereas that of upward vestibular signals involves both the MLF and the VTT. The main focal lesions resulting in DBN affect the cerebellar flocculus and/or paraflocculus. Apparently, this structure tonically inhibits the SVN and its excitatory efferent tract (i.e. the VTT) but not the downward vestibular system. Therefore, a floccular lesion could result in a disinhibition of the SVN-VTT pathway with, consequently, relative hyperactivity of the drive to the motoneurons of the elevator muscles, resulting in an upward slow phase. UBN also results from lesions affecting the caudal medulla. An area in this region could form part of a feedback loop involved in upward gaze-holding, originating in a collateral branch of the VTT and comprising the caudal medulla, the flocculus and the SVN, successively. Therefore, it is suggested that the main types of spontaneous vertical nystagmus due to focal central lesions result from a primary dysfunction of the SVN-VTT pathway, which becomes

  1. Enxaqueca oftalmoplégica: achados à ressonância magnética. Relato de caso Ophthalmoplegic migraine: MRI fingings. Case report

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    Luciano Farage


    Full Text Available A enxaqueca oftalmoplégica é síndrome rara em que a cefaléia se associa à oftalmoplegia por paralisia do terceiro, quarto ou sexto nervos cranianos. Ocorre mais freqüentemente em crianças e adolescentes. Ao exame de ressonância magnética (RM, com uso de gadolínio, é observado realce transitório do nervo afetado. Apresentamos o caso de um adolescente, 16 anos, masculino, com história típica e hipersinal nas seqüências ponderadas em T1 pós-infusão venosa do gadolínio na porção cisternal do nervo oculomotor esquerdo. No exame de controle, realizado 18 meses depois, houve remissão completa das alterações na RM. O hipersinal do oculomotor à RM é sempre patológico; entre os diagnósticos diferenciais devemos incluir neoplasias (linfoma, leucemia, infecções (SIDA, sífilis, doenças inflamatórias não-infecciosas (sarcoidose, síndrome de Tolosa-Hunt e vasculares (aneurisma da artéria comunicante posterior.Ophthalmoplegic migraine is a rare syndrome in which headache is associated with ophthalmoplegia and third, fourth or sixth cranial nerves palsy. It occurs most frequently in childhood and teenagers. At magnetic resonance imaging (MRI with gadolinium (GD-DTPA it may be observed a transitory enhancement of the affected nerve. We present the case of a male teenager, 16 years old, with typical medical history and enhanced signal at left oculomotor nerve in cisternal portion at MRI weighted in T1 with GD-DTPA. On the control exam, eighteen months later, there was no remarkable lesion. The enhancement of oculomotor nerve at MRI is always pathological and among the differential diagnosis we must include: neoplasia (lymphoma and leukemia, infections (AIDS, syphilis, inflammatory process (sarcoidose and Tolosa-Hunt syndrome and vascular (posterior communicating artery aneurism.

  2. Centronuclear (myotubular myopathy

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    Wallgren-Pettersson Carina


    Full Text Available Abstract Centronuclear myopathy (CNM is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The incidence of X-linked myotubular myopathy is estimated at 2/100000 male births but epidemiological data for other forms are not currently available. The clinical picture is highly variable. The X-linked form usually gives rise to a severe phenotype in males presenting at birth with marked weakness and hypotonia, external ophthalmoplegia and respiratory failure. Signs of antenatal onset comprise reduced foetal movements, polyhydramnios and thinning of the ribs on chest radiographs; birth asphyxia may be the present. Affected infants are often macrosomic, with length above the 90th centile and large head circumference. Testes are frequently undescended. Both autosomal-recessive (AR and autosomal-dominant (AD forms differ from the X-linked form regarding age at onset, severity, clinical characteristics and prognosis. In general, AD forms have a later onset and milder course than the X-linked form, and the AR form is intermediate in both respects. Mutations in the myotubularin (MTM1 gene on chromosome Xq28 have been identified in the majority of patients with the X-linked recessive form, whilst AD and AR forms have been associated with mutations in the dynamin 2 (DNM2 gene on chromosome 19p13.2 and the amphiphysin 2 (BIN1 gene on chromosome 2q14, respectively. Single cases with features of CNM have been associated with mutations in the skeletal muscle ryanodine receptor (RYR1 and the hJUMPY (MTMR14 genes. Diagnosis is based on typical histopathological findings on muscle biopsy in combination with suggestive clinical features; muscle magnetic resonance imaging may complement clinical assessment and inform genetic testing in cases with equivocal features. Genetic counselling should be offered to all patients and families in whom a diagnosis of CNM has been made. The

  3. Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report

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    Dantas Clarissa R


    Full Text Available Abstract Introduction Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been an increase in the number of clinical settings in which the disorder is observed. Case presentation We report the case of a 45-year-old Caucasian woman who arrived at the emergency room presenting signs of marked malnutrition and mental confusion, ataxic gait and ophthalmoplegia. Main laboratory test findings included low serum magnesium and megaloblastic anemia. Brain magnetic resonance imaging revealed increased T2 signal in the supratentorial paraventricular region, the medial regions of the thalamus and the central and periaqueductal midbrain. The diagnosis of Wernicke's encephalopathy was made at once and immediate reposition of thiamine and magnesium was started. The patient had a long history of recurrent thoughts of being overweight, severe self-imposed diet restrictions and self-induced vomiting. She had also been drinking gin on a daily basis for the last eight years. One day after admittance the acute global confusional state resolved, but she presented severe memory deficits and confabulation. After six months of outpatient follow-up, memory deficits remained unaltered. Conclusion In this case, self-imposed long-lasting nutritional deprivation is thought to be the main cause of thiamine deficiency and subsequent encephalopathy, but adjunct factors, such as magnesium depletion and chronic alcohol misuse, might have played an important role, especially in the development of Korsakoff's syndrome. The co-morbidity between eating disorders and substance abuse disorders has emerged as a

  4. Patients with chronic fatigue syndrome performed worse than controls in a controlled repeated exercise study despite a normal oxidative phosphorylation capacity

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    Sluiter Wim


    Full Text Available Abstract Background The aim of this study was to investigate the possibility that a decreased mitochondrial ATP synthesis causes muscular and mental fatigue and plays a role in the pathophysiology of the chronic fatigue syndrome (CFS/ME. Methods Female patients (n = 15 and controls (n = 15 performed a cardiopulmonary exercise test (CPET by cycling at a continuously increased work rate till maximal exertion. The CPET was repeated 24 h later. Before the tests, blood was taken for the isolation of peripheral blood mononuclear cells (PBMC, which were processed in a special way to preserve their oxidative phosphorylation, which was tested later in the presence of ADP and phosphate in permeabilized cells with glutamate, malate and malonate plus or minus the complex I inhibitor rotenone, and succinate with rotenone plus or minus the complex II inhibitor malonate in order to measure the ATP production via Complex I and II, respectively. Plasma CK was determined as a surrogate measure of a decreased oxidative phosphorylation in muscle, since the previous finding that in a group of patients with external ophthalmoplegia the oxygen consumption by isolated muscle mitochondria correlated negatively with plasma creatine kinase, 24 h after exercise. Results At both exercise tests the patients reached the anaerobic threshold and the maximal exercise at a much lower oxygen consumption than the controls and this worsened in the second test. This implies an increase of lactate, the product of anaerobic glycolysis, and a decrease of the mitochondrial ATP production in the patients. In the past this was also found in patients with defects in the mitochondrial oxidative phosphorylation. However the oxidative phosphorylation in PBMC was similar in CFS/ME patients and controls. The plasma creatine kinase levels before and 24 h after exercise were low in patients and controls, suggesting normality of the muscular mitochondrial oxidative phosphorylation. Conclusion The

  5. Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy

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    Sebastiá R


    be efficient and relatively safe. The correction should be conservative to decrease the risk of postoperative corneal damage that occurred in one patient. Keywords: Kearns-Sayre syndrome, blepharoptosis, fascia lata lid suspension, chronic progressive external ophthalmoplegia


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    Gitanjali Sikka


    Full Text Available Background: Snakebite is an environmental hazard associated with significant morbidity and mortality. Neurotoxic envenomations have the potency to cause a broad spectrum of presentations starting from ptosis and ophthalmoplegia to respiratory arrest. These patients require ventilatory assistance in addition to administration of anti-snake venom (ASV and other supportive measures. Mechanically ventilated patients are at risk for retained secretions due to endotracheal intubation disrupting mucociliary escalator, relative immobility of mechanically patient confined to bed can lead to postoperative atelectasis, impaired cough, and retained secretions and thereby physical therapy may be indicated for patients in the intensive care setting. Materials and Methods: A total of twenty four consecutive patients ranging in age from 25-45 years, who required, mechanical ventilation for respiratory muscle paralysis, secondary to snake envenomation, seen during three months period, recruited from various ICU’s were included in the study. All the patients included were mechanically ventilated on Hamilton Evita ventilator, on volume control (CMV mode with PEEP<10 cmH2O and had stable hemodynamics with heart rate = 60-100 beats/min; MABP = 70-110mm Hg. Patients received chest physiotherapy intervention twice in a day. Effects of physiotherapy treatment were studied on static lung compliance (CST, oxygenation ratio (PaO2:FiO2 ratio, partial pressure of carbon dioxide in arterial blood (PaCO2 , cologarithm of activity of dissolved hydrogen ions in arterial blood (pH and chest X-rays. Measurements of dependent variables were recorded (PRE before commencement of treatment, 30 minutes and 60 minutes after treatment. Physiotherapy intervention included bronchial hygiene therapy and manual hyperinflation using Mapleson-C circuit. Results: Analysis of variance showed that there was highly significant improvement in CST mean values (p<0.01 and significant improvement

  7. Spinocerebellar ataxias Ataxias espinocerebelares

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    Hélio A.G. Teive


    Full Text Available Spinocerebellar ataxias (SCAs constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE: To carry out a clinical and genetic review of the main types of SCA. METHOD: The review was based on a search of the PUBMED and OMIM databases. RESULTS: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. SCAs are genotypically and phenotypically very heterogeneous. A clinical algorithm can be used to distinguish between the different types of SCAs. CONCLUSIONS: Detailed clinical neurological examination of SCA patients can be of great help when assessing them, and the information thus gained can be used in an algorithm to screen patients before molecular tests to investigate the correct etiology of the disease are requested.As ataxias espinocerebelares (AECs compreendem um grupo heterogeneo de enfermidades neurodegenerativas, que se caracterizam pela presença de ataxia cerebelar progressiva, associada de forma variada com oftalmoplegia, sinais piramidais, distúrbios do movimento, retinopatia pigmentar, neuropatia periférica, disfunção cognitiva e demência. OBJETIVO: Realizar uma revisão clínico-genética dos principais tipos de AECs. MÉTODO: A revisão foi realizada através da pesquisa pelo sistema do PUBMED e do OMIM. RESULTADOS: Na atualidade existem cerca de 30 tipos de AECs, com a descoberta de 16 genes. Os tipos mais comuns são a AEC tipo 3, ou doença de Machado-Joseph, a AEC tipo 10, e as AECs tipo 7, 2 1, e 6. As AECs apresentam grande heterogeneidade genotípica e fenotípica. Pode-se utilizar um algoritmo clínico para a

  8. 眼部受累的神经型布鲁菌病的临床特征分析%Ocular syndromes in patients with neurobrucellosis

    Institute of Scientific and Technical Information of China (English)

    李清晨; 代飞飞; 朱丽平; 王佳伟; 景筠


    Objective To investigate the clinical features of ocular syndromes in patients with neurobrucellosis.Method This is a retrospective series case study.The clinical data of 5 patients with neurobrucellosis, who were treated in Department of Neurology, Beijing Tongren Hospital, Captical Medical Uinversity, from May 2009 to January 2015, were collected.Their epidemiological information, clinical manifestation, laboratory and radiologic examination, therapy and prognosis were analyzed.Results Among the five patients, there were 3 males and 2 females, and their ages ranged from 20 to 67 years.The median age was 25 years.All patients had ever exposed to sheep.1 patient lived close to a slaughterhouse and 2 patients lived in epidemic areas of brucellosis.5 patients presented with binocular vision loss, 8 eyes with fundus edema, 3 patients with ophthalmoplegia;4 patients with fever,4 patients with headache,3 patients with neck stiffness, 1 patient with movement and sensation disorders.Cerebrospinal fluid (CSF) pressure elevated, white cell number and protein increased with glucose reduction were detected respectively in 3 cases.While, CSF chloride decreased in 2 cases.Serum agglutination test for brucella was positive in 5 patients.Serum brucella culture was positive in 1 patient and CSF brucella culture was positive in 1 patient.Brain magnetic resonance imaging (MRI) showed that the optic nerve was involved in 3 patients,the meninges were involved in 1 patient and the brain white matter was involved in 1 patient.The combination of rifamycin, tetracycline, ceftriaxone sodium or quinolone were given to all patients and showed appreciated effects.Conclusions The clinical features of ocular syndromes are atypical in patients with neurobrucellosis.Vision loss and ophthalmoplegia are more common to be seen.Neurobrucellosis should be considered when patients with ocular signs and other system symptoms without a definite diagnosis.%目的 探讨眼部受累的神经型布

  9. Bickerstaff 脑干脑炎和 Miller Fisher 综合征临床及预后的对比研究%Retrospective analysis on Miller Fisher syndrome and Bickerstaff brainstem encephalitis

    Institute of Scientific and Technical Information of China (English)

    王志丽; 谭利明; 赵鑫; 肖艳桥; 杨利


    Objective The aims of our study were to clarify the clinical profiles , outcomes and nosological relationship of Bickerstaff brainstem encephalitis (BBE) and Miller Fisher syndrome (MFS) by studying their clinical features and laboratory characteristics .Methods We reviewed medical records of 21 BBE and 67 M FS patients diagnosed by strict criteria at the second Xiangya Hospital in Changsha Hauan , China between 2003 and 2013 .We collected data on clinical profiles and outcomes of BBE and MFS .Results In our study ,we found that BBE and MFS shared many similarities :upper respiratory infection was the most frequent preceding symptom (48% vs .54% ) ,and ophthalmoplegia ,ataxia were the common clinical features .There was no significant difference between the two groups in the proportion of patients presenting with headach (42% vs . 30% ) ,internal ophthalmoplegia (38% vs .25% ) ,bulbar palsy (50% vs .48% ) ,facial palsy (35% vs .30% ) , surperficial sense impairment (25% vs . 42% ) . CSF albuminocytological dissociation (25% vs . 38% ) and abnormal MRI on T2‐weighted images (59% vs .4% ) were prentent in both BBE and MFS .Compared with M FS ,our BBE patients had more evidence of CNS involvement because almost all had impaired consciousness (76% ) ,hyperreflexia (52% ) ,Babinski sign (32% ) and abnormal EEG findings (78% ) and high‐intensity abnormalities on MRI on T2‐weighted images of the brainstem (59% ) .Both outcomes generally are good ,by 1 year after disease onset 48% of the 21 BBE patients and 88% of the 67 MFS patients show complete remission with no residual symptoms .In addition ,6 BBE patients died .Conclusions Because of the similarities in the clinical presentations of BBE and MFS ,we could make conclusive that BBE and MFS are not two distinct conditions ,but form a single autoimmune continuous spectrum .%目的:探讨Bickerstaff 脑干脑炎(BBE)和Miller Fisher综合征(MFS)的临床特征,研究两者的症状学特点及疾病分

  10. Clinical and neuroimaging study of spinocerebellar ataxia type 2%脊髓小脑共济失调2型临床和神经影像学特征分析

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    陈园园; 郝莹; 顾卫红; 张瑾; 王国相; 王康; 金淼; 段晓慧


    研究背景 脊髓小脑共济失调2型(SCA2)为常染色体显性遗传性疾病,是由致病基因ATXN2编码区胞嘧啶-腺嘌呤-鸟嘌呤(CAG)三核苷酸重复序列扩展突变引起,目前较公认的正常重复范围为13~31次,异常重复范围>34次.主要表现包括小脑共济失调、眼肌麻痹、慢眼动、腱反射减弱,可伴有动作性震颤、智力减退和周围性感觉神经病等;头部MRI显示脑干、小脑明显萎缩(典型的橄榄脑桥小脑萎缩改变).本研究针对5例经基因检测明确诊断的SCA2家系先证者进行临床和影像学特点,以及表型与基因型相关性分析.方法 对708例常染色体显性遗传性SCA家系的先证者和119例临床拟诊SCA的散发患者进行常规基因学检测,分析SCA1 ~3、6、7、17型和齿状核红核苍白球路易体萎缩致病基因CAG序列重复动态突变.采用聚合酶链反应扩增重复序列、琼脂糖凝胶电泳检测扩增产物,对于出现2个电泳条带的样品通过荧光标记毛细管电泳片段分析方法进行重复序列计数.结合基因学检测结果,对患者临床表型和神经影像学特征进行分析.结果 其中45例患者携带SCA2基因CAG重复扩展突变,临床表现为小脑共济失调、眼肌麻痹、慢眼动、腱反射减弱或消失,部分患者可伴有动作性震颤,MRI均显示脑干、小脑明显萎缩.其中5例典型病例的临床表型均与其基因型相符.结论 基因学检测可为SCA2的明确诊断提供依据,临床和神经影像学特征有助于诊断与鉴别诊断.对于携带中间重复等位基因个体的诊断,需结合临床和影像学特点以及家系上下代动态突变进行分析.%Background Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disease characterized by cerebellar ataxia,ophthalmoplegia,slow saccade,hyporeflexia,action tremor,cognitive decline and peripheral neuropathy.The brain MRI shows obvious atrophy of cerebellum and

  11. 垂体瘤凝固性坏死七例报告并文献复习%Pituitary adenoma coagulation necrosis: seven cases report and literatures review

    Institute of Scientific and Technical Information of China (English)

    任铭; 张宏伟; 张明山; 曲彦明; 夏雷; 王浩然; 朱明旺; 于春江


    目的 探讨垂体瘤凝固性坏死的临床表现、影像学特点、治疗及预后.方法 总结7例垂体瘤凝固性坏死的临床病例资料,并文献复习.结果 急性起病2例,亚急性起病5例.头痛6例、恶心呕吐3例、视力下降7例、视野缺损6例、眼肌麻痹3例、发热1例.全垂体功能低下4例;仅性腺轴功能低下1例;正常2例.MRI平扫以短T1为主的混杂信号6例,呈短T2低信号环5例;增强扫描肿瘤周边强化7例.术中见肿瘤呈黄白色豆渣样物质6例,呈沙砾样固体组织1例.术后2个月死亡1例,其余6例长期随访预后良好.结论 垂体瘤凝固性坏死是一种特殊类型的梗死性卒中,有特征性MRI表现;经蝶手术治疗为其首选治疗方式,效果理想.%Objective To summary the clinical manifestations,imaging findings,the treatment and prognosis of pituitary adenoma coagulative necrosis.Methods Seven cases were analyzed and the literatures were reviewed.Results In these seven patients,headache (6/7),nausea and vomiting (3/7),visual disturbance (7/7),visual field defect (6/7),ophthalmoplegia (3/7) and fever (1/7) were presented.Endocrine test showed hypopituitarism in four cases and hypogonadotropin in one.Magnetic resonance image (MRI) showed six had mixed intensity signal with hyperintense signal in the majority on T1-weighted image; five had peripheral ring hypointense signal on T2-weighted image.With gadolinium (Gd) enhancement,all seven masses showed peripheral rim enhancement.All the seven patients were finally diagnosed as pituitary adenoma coagulative necrosis pathologically after surgery via transsphenoidal approach.The mass showed yellowy white soybean dregs similar materials in six cases,and pale yellow solid substance in one case.One patient was died two months after surgery; the others showed no recurrence and hypopituitarism as follow-up.Conclusions Pituitary adenoma coagulative necrosis is one rare type of infarction pituitary apoplexy,with unique

  12. Mutation of mitochondrial transfer RNA for leucine 1 causing variable mitochondrial diseases%亮氨酸转运核糖核酸1基因突变与线粒体病

    Institute of Scientific and Technical Information of China (English)

    王康; 焉传祝; 王国相; 焦劲松; 金淼; 顾卫红


    Objective Mitochondrial transfer RNA for leucine 1(MTTL1)is one of the most important causative genes of oxidative phosphorylation disorders.To understand the clinical,pathological and molecular genetics features of the disordel's caused by MTTL1 mutation.18 patients with a causative mutation in MTTL1 were analyzed.Methods The clinical features,the findings of tlleir biochemistry tests.the neuroimagings,the pathology of biopsied muscles and hereditary characteristics were retrospectively summarized.Results The mutations mt3243A>G and mt3271A>T within MTTL1 gene led to variant syndrome,encephalomyopathies with lactic acidosis and stroke like episodes,diabetes mellitus,progressive external ophthalmoplegia,leish syndrome and complex mitochondrial syndrome were reported.Usually,most patients were sporadic but maternal transmission was the common inherited model.Conclusion The disorders caused by the MTTL1 mutation are hishly phenotypic vailable.There is no association between phenotype and heteroplasmy in muscle.%目的 在线粒体疾病中,亮氨酸转运核糖核酸1(tRNA1)基因突变是最为常见的致病突变之一,我们回顾性分析亮氨酸tRNA1基因突变所导致患者的临床特征和病理特点,以及与突变负荷的关系.方法 经测序确认的亮氨酸tRNA1基因突变(MTTL1*3243A>G,3271A>T)患者18例.回顾性分析线粒体亮氨酸转运核糖核酸1(MTTL1)突变患者的临床表型、病理学特点、遗传和分子生物学特征.结果 MTTL1突变导致线粒体腩肌病伴高乳酸血症和脑卒中样发作(MELAS)表型最多(13例),其次可见于糖尿病(1例)、进行性眼外肌麻痹(1例)以及Leigh综合征(1例)和未分类的线粒体病(2例).多数患者为散发,有5例患者为母系遗传.表型与突变负荷无显著相关.结论 MTTL1基因突变具有高度的表型变异,表型与突变负荷无明显关系.

  13. Clinical analysis of 4 case of Niemann-Pick disease type C%C型尼曼-匹克病4例临床分析

    Institute of Scientific and Technical Information of China (English)

    邓小鹿; 尹飞; 毛华雄; 彭镜


    Objective To summarize and analyze the clinical features, diagnostic approaches and treatment of Niemann-Pick disease type C (NPC) in children. Methods Data of 4 cases of NPC children being followed up from 2006 to 2010 in Xiangya Hospital, Central South University were collected and analyzed. Results Among the 4 cases,age of onset of clinical signs ranged from 6 months to 10 years. The primary symptoms were instability of gait, alalia, and splenomegaly. Clinical features included visceral signs, cortical signs and extrapyramidal signs. Brain stem signs included vertical supranuclear ophthalmoplegia (3 cases), dysarthria (3 cases), and dysphagia (2 cases). Bone marrow biopsy showed Niemann-Pick cells (2 cases) and sea-blue histiocytes (2 cases).Brain MRI showed either normal (2 cases) or mild encephalatrophy (2 cases).The EEG presented abnormal in 4 cases which showed slow background activity.Epileptiform discharges were found in 3 cases of the patients. Activity of acid sphingomyelinase was performed in 2 cases,and the results were normal. Four patients were given low-fat diet and mixed vitamin.Two patients receiving antiepileptic drugs treatment did not show significant improvement. The follow-up ranged from 1 month to 4 years. One patient died,and three patients showed retrogressive mental and motor development with brain stem signs. Conclusion NPC is a fatal autosomal recessive disorder. Clinical featnres are hepatosplenomegaly, ataxia, neurodegenerative changes and brain stem dysfunction. Until recently, there has been no available disease-specific therapies for NPC.Miglustat is available to stabilize the disease course and prolongs lifespan.%目的 分析C型尼曼-匹克病(NPC)临床特征、诊断及治疗方法.方法 总结中南大学湘雅医院2006年1月至2010年4月收治的4例NPC患儿的临床表现、实验室资料及治疗情况.结果 4例起病年龄6个月至10岁.首发症状为步态不稳2例,吐字不清1例,脾大1例.就诊时主要

  14. 垂体卒中导致脑梗死的系统分析%Cerebral infarction caused by pituitary apoplexy:a systemic analysis

    Institute of Scientific and Technical Information of China (English)

    潘元美; 李焰生


      目的通过回顾性分析文献,总结有垂体卒中导致的脑梗死的临床特点以增进对之认识。方法通过检索Pubmed、Medline、维普和万方电子数据库,对1950年~2011年间有关垂体卒中所致脑梗死的病例报道进行分析。结果共纳入英文文献19篇,共计患者21例,临床症状主要为意识障碍(81畅0%)、突发的头痛(76畅2%)、视力障碍(61畅9%)、眼外肌麻痹(52畅4%)和偏瘫(71畅4%)等。52畅4%的患者累及多支血管。机械性压迫和血管痉挛是垂体卒中所致脑梗死的主要机制。16例患者接受了经蝶或经颅手术治疗,接受急诊手术的7例中有4例(57畅1%)患者出现死亡,明显高于择期手术患者(P<0畅05)。结论垂体卒中所致脑梗死临床症状危重,预后较差,急诊手术的死亡风险较大。%Objective To characterize the clinical features of the cerebral infarction caused by pituitary apoplexy by systemic analysis of the literatures. Methods A literature (from 1950 to 2011) rearch about the cerebral infarction caused by pituitary apoplexy were performed using the reference database Pubmed , Medline, and Chinese database (Wei Pu and Wan Fang). Results A total of 19 English published literatures with 21 patients were collected for analysis.The clinical symptoms mainly were disturbance of consciousness (81.0%), sudden headache (76.2%), visual impairment (61.9%), ophthalmoplegia (52.4%), and hemiplegia (71.4%).About 52.4%of patients had multi-vessel involvement.Mechanical pressure and vasospasm were considered as the pathogenesis of cerebral infarction caused by pituitary apoplexy .16 patients had received transsphenoidal or transcranial surgical treatment.Among them, 7 patients had urgent surgery and 4 patients died, which was significantly higher than that of the patients got elective surgery (P<0.05). Conclusion Pituitary apoplexy caused cerebral infarction is a rare but

  15. Dominant optic atrophy

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    Lenaers Guy


    Full Text Available Abstract Definition of the disease Dominant Optic Atrophy (DOA is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain. Epidemiology The prevalence of the disease varies from 1/10000 in Denmark due to a founder effect, to 1/30000 in the rest of the world. Clinical description DOA patients usually suffer of moderate visual loss, associated with central or paracentral visual field deficits and color vision defects. The severity of the disease is highly variable, the visual acuity ranging from normal to legal blindness. The ophthalmic examination discloses on fundoscopy isolated optic disc pallor or atrophy, related to the RGC death. About 20% of DOA patients harbour extraocular multi-systemic features, including neurosensory hearing loss, or less commonly chronic progressive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like illness, spastic paraplegia or cataracts. Aetiology Two genes (OPA1, OPA3 encoding inner mitochondrial membrane proteins and three loci (OPA4, OPA5, OPA8 are currently known for DOA. Additional loci and genes (OPA2, OPA6 and OPA7 are responsible for X-linked or recessive optic atrophy. All OPA genes yet identified encode mitochondrial proteins embedded in the inner membrane and ubiquitously expressed, as are the proteins mutated in the Leber Hereditary Optic Neuropathy. OPA1 mutations affect mitochondrial fusion, energy metabolism, control of apoptosis, calcium clearance and maintenance of mitochondrial genome integrity. OPA3 mutations only affect the energy metabolism and the control of apoptosis. Diagnosis Patients are usually diagnosed during their early childhood, because of

  16. Síndrome de Guillain Barré en pediatría Guillain-Barré syndrome in pediatrics

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    Ricardo Erazo Torricelli


    . AIDP is associated in 30-50% of cases with cranial nerve involvement, which is not observed in AMAN. MFS is characterized by ataxia, ophthalmoplegia and areflexia, but it may also present cranial nerve dysfunction. Recent data on the pathology and pathophysiology of GBS emphasize the important role of Campylobacter jejuni infection in generating anti-ganglioside antibodies (GM1 in AIDP, GQ1b in MFS and GD1a in AMAN, which damage myelin in AIDP and MFS and axons in AMAN. The differential diagnosis must rule out other disorders of the central nervous system (encephalitis, encephalomyelitis, myelitis, myasthenic syndromes, toxic neuropathies induced by heavy meals, drugs, chemical substances or animal toxins, and myopathic conditions, especially acute benign infectious myositis and neuromyopathy of the intensive care unit patient. It is important the treatment with immune globulin, at a total dose of 2 grams per kilogram administered over 48 hours. Plasmapheresis can be equally effective. GBS has a good prognosis in children with a total recovery in 85% of cases. Rehabilitation is crucial to attain a more rapid and global improvement.

  17. Study of Cerebrospinal Fluid (CSF and Clinical and Electrophysiological Features of Hospitalized Patients with Gullain-Barre´ Syndrome

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    Md Nazmul Huda


    Full Text Available Background: Since the elimination of poliomyelitis from most part of the world Gullain-Barre' Syndrome (GBS has been the leading cause of acute flaccid paralysis which leads to substantial morbidity and mortality. Though GBS has received a lot of attention in developed countries, there is a paucity of reports on the GBS from the developing world including Bangladesh. Objective: The objective of the study was to correlate clinical, cerebrospinal fluid (CSF and electrophysiological findings of hospitalized Gullain-Barre´ syndrome patients for early diagnosis and appropriate management. Materials and Methods: A total of 47 clinically diagnosed GBS patients admitted in Neurology, Medicine and Pediatrics departments of Dhaka Medical College Hospital (DMCH were included in this quasi-experimental study. Biochemical, cytological and bacteriological studies of CSF of these patients were done. Electrophysiological studies of all subjects were done and values were compared with upper and lower limits of normal. Results: In this study, antecedent event were present in 55.30% cases and upper respiratory infection (23.40% and gastroenteritis (21.30% were the commonest antecedent disorders. All the study patients had numbness or paresthesia and limb weakness, and muscle pain was in 44.7% cases, facial weakness in 36.2% cases, ophthalmoplegia or ptosis in 6.4% and bulbar involvement was in 6.4% cases. Most of the patients (95.7% had deep tendon hypo/areflexia followed by respiratory distress (21.3%, and ataxia (19.1%. Majority of the study patients (57.4% required one week time to develop maximum deficit. Maximum subjects (70.2% had motor type GBS followed by sensorimotor type (21.3%, Miller-Fisher type (6.4% and sensory type (2.1%. Eighty three percent of the study patients had CSF protein concentration >45 mg/dL with mean ± SD of 71.32 ± 20.20 mg/dL (37–112 mg/dL. The cell count in CSF was <5 per mm3 in 95.7% of the study patients with mean ±SD cell

  18. Clinical features of botulism%肉毒杆菌中毒的临床特点

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    买买提依明; 马卫英; 热西旦; 颜静; 杨宛霖; 傅毅; 陈生弟


    Objective To explore the clinical features of botulism.Methods The clinical data of 5 patients with botulism were retrospectively analyzed.Results All the five cases were onset due to take homemade stinky tofu,and among them three cases were in a collectivity food poisoning.The mean latency was 3.4 days.Initial symptoms were slurred speech 3 cases,dysphagia 3 cases,dizziness 3 cases,fatigue and diarrhea 2 cases respectively,while dyspnea and poor appetite 1 case.As the disease progressed,all 5 cases experienced dizziness and blurred vision,and occurred ptosis,ophthalmoplegia and generalized weakness 4 cases,chest distress,dyspnea and diplopia 3 cases.Botulinum antitoxins A and B were given after confirmation of the diagnosis,symptomatic therapies including oxygen inhalation,anti-infection,maintenance of hydroelectrolytic equilibrium etc.were applied as well.Finally,4 cases were significantly improved,however,two of them remained mild dysphagia,and the rest 1 case was no effective (the treatment was late).Conclusions The symptoms of nervous system damage are occurred in patients with botulism.Dizziness,cerebral nerves and muscle palsy are its main manifestations.Early application of botulinum antitoxins treatment is effectual.%目的 探讨肉毒杆菌中毒的临床特点.方法 回顾性分析5例肉毒杆菌中毒患者的临床资料.结果 本组5例患者均因食用自制臭豆腐发病,其中3例为群体发病.发病潜伏期平均3.4d.首发症状分别为言语不清3例、吞咽困难3例、头晕3例、无力和腹泻2例,呼吸困难1例;随着病程进展,5例患者均出现头晕、视物模糊,出现眼睑下垂、睁眼困难、全身无力和肌力下降4例,胸闷、呼吸困难和复视3例.给予A型和B型肉毒抗毒素治疗,同时给予吸氧、抗感染和维持水电解质等对症治疗.经治疗病情好转4例,其中2例遗留轻度吞咽困难,无效1例(治疗较晚).结论 肉毒杆菌中毒多出现神经系统损害的症状,

  19. Cytological Features of Cerebrospinal Fluid in Guillain-Barr é Syndrome and Their Diagnostic Value%吉兰-巴雷综合征的脑脊液细胞学特点及诊断意义

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    关鸿志; 陈琳; 崔丽英; 管宇宙; 李秀丽; 钱敏; 任海涛; 赵燕环


    Objective To investigate the cytological features of cerebrospinal fluid (CSF) in Guillain-Barré syndrome ( GBS) and the role of the cytological features in the diagnosis of GBS .Methods We reviewed the clini-cal , neurophysiological , and CSF cytological findings of GBS patients treated in Peking Union Medical College Hos-pital from January 2010 to December 2012.The included patients all met the diagnostic criteria in 2010 China Guidelines for Diagnosis and Treatment of GBS .CSF cytological tests were performed using sedimentation chamber and MGG staining .CSF routine cell count and CSF cytological-finding positive-rate were compared with Chi-square test.Results Twenty-eight cases of GBS were included , at a mean age of 39 years (8-69 years), including 19 males and 9 females.The 28 patients all had acute onset , with 22 demonstrating limb weakness , 13 hypoesthesia, 3 hyperesthesia , 7 bulbar paralysis , 3 with the need of assisted ventilation, 5 urinary retention, 1 positional hypoten-sion, 5 ophthalmoplegia, 10 facial paralysis, and 4 ataxia.The patients were clinically classified to acute inflammatory demyelinating polyneuropathy (20 cases), acute motor axonal neuropathy (1 case), acute motor-sensory axonal neu-ropathy (1 case), acute sensory neuropathy (1 case), Miller Fisher syndrome (4 cases), and GQ1b antibody-positive ophthalmoplegia (1 case).CSF protein was 0.39-4.23 g/L, increased in 26 cases, and >1.0 g/L in 11 cases.CSF white blood cell count was 0 ×106 -5 ×106/L in 26 cases, and 6 ×106 -10 ×106/L in 2 cases.Oligoclonal band test of CSF produced positive results in 14 cases, and myelin basic protein was found increased in 18.Anti-GM1 antibodies were positive in 3 cases and anti-GQ1b antibodies in 2 cases.Abnormal CSF cytological results were found in 12 patients , including lymphocytic inflammation in 9 and monocyte-lymphocytic inflammation in 3.The percentage of neutrophils reached 2% in 1 case.Activated lymphocytes were present in 6 cases

  20. 35例韦尼克脑病临床分析%Clinical analysis of 35 cases Wernicke’ s encephalopathy

    Institute of Scientific and Technical Information of China (English)

    周露玲; 曾立; 贾薇; 宋晓松; 陈吉祥; 杨琴


    Objective To investigate the etiology,clinical manifestations,MRI characteristics,misdiagnosed causes and prognosis of Wernicke’s encephalopathy.Methods 35 WE patients admitted to our hospital from October 2012 to June 2015 were analysed retrospectively for clinical data.Results Alcohol abuse is was the most common reason of WE, followed by the stomach,gallbladder and pancreatic deseases caused vomiting and poor diet.Patients accounted for 11.4%with typical triad syndrome including mental disorders,ophthalmoplegia and ataxia disorders,42.9% with two of triad syn-drome,45.7% with one of triad syndrome.Brain MRI showed symmetrical abnormal signals in bilateral thalamus,abound of lateral ventricle,aqueduct,the third and fourth ventricle,mamillary body,cortex and corpus callosum.The misdiagnosis rate was 60% for 35 WE patients,54.17% for alcoholic WE and 72.73% for non alcoholic WE.During hospitalization,the symptoms were improved for 91.42% (32 /35) patients and were not improved for 8.58% (3/35) patients.After 5 months for leaving hospital,9 cases lost follow-up,6 cases died (mortality rate is was 23.07%),13 cases were cured (50%),5 cases had memory disorders,2 cases stayed completely in bed.Conclusion The etiology and clinical features of WE vary greatly,MRI has a characteristic change,but misdiagnosis rate in early stage is very high.The prognosis of WE is closely related to the time of diagnosis and treatment.%目的:探讨韦尼克脑病(Wernicke’s encephalopathy,WE)的病因、临床表现、磁共振特征、误诊原因和治疗转归。方法回顾性分析我院2012年10月~2015年6月收治的35例 WE 患者的临床资料。结果饮酒是 WE 最常见原因,其次是胃、胆囊、胰腺病变导致呕吐和进食差。具有典型的精神意识障碍、眼肌麻痹、共济失调三联征者占11.4%,具备三联征中两项者占42.9%,仅有三联征中一项者占45.7%。头部 MRI 可见双侧丘脑、侧脑室周围

  1. Expressions of PDCD5 and other apoptosis-related proteins in muscle of patients with mitochondrial cytopathy%程序化细胞死亡分子5及其他凋亡调控蛋白在线粒体病患者骨骼肌中的表达

    Institute of Scientific and Technical Information of China (English)

    李永杰; 王朝霞; 高旭光; 洪道俊; 袁云


    Objective To investigate the expression of PDCDS, Caspase-3, Bcl-2 and Bax in skeletal muscle of patients with mitochondrial encephalomyopathies with lactate acidosis and stroke like episodes (MELAS), limb-girdle type mitochondrial myopathy (LGMM) and chronic progressive external ophthalmoplegia (CPEO), and to explore the correlation between apoptosis and the pathogenesis of mitochondrial cytopathy. Methods Three patients with MELAS, 2 patients with LGMM and 6 patients with CPEO were enrolled, including eight males and three females, the diagnosis of MELAS, LGMM or CPEO was made on the basis of clinical manifestations, muscle biopsy specimen findings and a point mutation or a large-scale mitochondrial DNA deletion. Controls consisted of 11 muscle biopsy samples from subjects with no diagnostic findings (age and gender matched with patients'). Muscle biopsy was performed after obtaining the informed consent. The specimens were quickly frozen and transverse sections stained for hematoxylin-eosin, periodic acid Schiff reaction, oil red "O", modified Gomori trichrome, ATPase, NADH-TR, succinate dehydrogenase, cytochrome c oxidase, and nonspecific esterase. The expression of PDCD5, Caspase-3, Bcl-2 and Bax were detected by immunohistechemistry. The authors used the tissue slices of prostate or tonsil containing the target protein as positive control and PBS in place of these primary antibodies as negative control. Results PDCD5 was highly expressed in some ragged red fibers in 2 patients with LGMM and 3 patients with CPEO. And it was also expressed in some capillary of patients with MELAS and LGMM. Caspase-3 was expressed in a few ragged red fibers in 1 patients with MELAS, 2 patients with LGMM and 1 patient with CPEO. And there was also expression in some capillary of both MELAS and LGMM. Bcl-2 staining showed a high expression in sarcoplasm of some ragged red fibers and atrophic fibers in 4 patients with MELAS, 2 patients with LGMM and 5 patients with CPEO, at the

  2. Clinical phenotype and genotype analysis in 61 patients with large scale single deletion in mitochondrial DNA%线粒体DNA单一大片段缺失患者61例临床表型和基因型分析

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    刘祺; 刘靖; 冷颖琳; 赵娟; 吕鹤; 张巍; 袁云; 王朝霞


    muscle mtDNA,including 54 patients with chronic progressive external ophthalmoplegia (CPEO),6 with KearnsSayre syndrome (KSS) and 1 with mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes.Totally 37 patterns of mtDNA deletions were detected in this cohort of patients.The "common deletion",4 977 bp deletion appeared in 39.3% (24/61) patients.The mean size of single deletion in CPEO patients was (5 052.17 ± 1 390.96) bp,while in KSS patients it was (5 912.43 ± 1 262.15) bp.There was no significant difference between CPEO patients group and KSS patients group.The size of deletions was correlated with onset age (r =-0.415,P =0.001).Conclusions Large-scale single deletion of mtDNA mainly causes CPEO and KSS.Patients with larger deletions present with earlier onset of disease.The mtDNA "common deletion" is also common in Chinese patients.

  3. Analysis for Clinical Features of Medullary Infarction(31 cases)%31例延髓梗死患者的临床分析

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    吴菁; 李威


    Aim: To study the clinical features of medullary infarction with the results of MRI and the anatomy feature. Methods: 31 acute medullary infarctions were observed and their lesion distribution, symptoms, signs and general disability status were analyzed. Results: Based on the lesion distribution, 31 medullary infarction cases could be classified into: 16 cases of lateral medullary infarction(LMI), 13 cases of medial medullary infarction (MMI), and 2 cases of bilateral infarctions. LMI included patients with lesions in the dorsolateral or lateral medulla. MMI included patients with lesions in the ventromedial medulla, and most of them had involvement of the rostral medulla. LMI usually led to atypical or partial Wallenberg syndrome. Vertigo, Horner's sign, dysarthria, dysphagia, uranoplegia and limb ataxia were the most frequent symptoms or signs for LMI. MMI usually led to sensorimotor stroke or pure motor stroke. Contralateral hemiparalysis, dysarthria, central facial palsy and central lingual paralysis were the most frequent symptoms or signs for MMI. The two cases of bilateral infarctions were bilateral medial medullary infarctions. One represented clinical manifestation as quadriplegia, bilateral sensory disturbance, internuclear ophthalmoplegia, dysarthria and dysphagia. And the other represented manifestation ashemiplegia, dysarthria and forced crying. Conclusion: The classic medullary syndromes were not common. LMI usually led to atypical or partial Wallenberg syndrome. MMI often seemed to present as capsular/pontine lacunar stroke. Bilateral medial medullary infarctions mostly involved the bilateral pyramidal tracts, represented bilateral motor deficits, so had poorer outcome.%目的:根据头颅MRI对延髓梗死病灶的定位并结合延髓的解剖学特点,探讨延髓梗死临床表现的特征.方法:31例急性延髓梗死患者均行头颅MRI检查,对其病灶位置分布、神经系统症状体征,出院当天改良Rankin量表(mRS)评

  4. Clinical and electrophysiological study of Miller-Fisher syndrome and Bickerstaff' s brainstem encephalitis%Miller-Fisher综合征和Bickerstaff脑干脑炎临床及电生理特点

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    孙青; 杜华; 吴双; 刘明生; 崔丽英; 邹漳钰; 管宇宙; 王含; 戴毅; 钱敏; 李本红


    between 2000 and 2011 were retrospectively analyzed.The electrophysiological parameters included sensory and motor nerve conduction,electromyography,F wave,sympathetic skin response and brainstem auditory evoked potential and blink reflex.Results MFS and BBE had similar clinical characteristics:respiratory symptoms were the most common infectious symptoms before disease onset; Ophthalmoplegia,facial palsy and bulbar symptoms were common; They both had cerebrospinal fluid albuminocytological dissociation and positive serum anti-GQ1b antibody.However,BBE had more central nervous system lesion signs clinically such as conscious disturbance,positive Babinski' s sign and central facial palsy.Electrophysiologically,MFS and BBE also had similar electrophysiological features:sensory nerve abnormality ratios were 6/13,2/7 respectively,with prominently reduced sensory nerve active potential amplitude,normal or slightly slowed sensory conduction velocity; Motor nerves abnormality ratios were 2/13,1/7 respectively,with slightly prolonged distal motor latency and normal compound muscle action potential; Electromyography abnormality ratios were 1/7,0/4 respectively; F wave frequency abnormality ratios were 3/13,5/7 respectively,and in some cases,F wave frequency would restore; Sympathetic skin response abnormality ratios were 1/2,1/3 respectively; Blink reflex abnormalityratios were 1/2,1/1 respectively,with central involvement in BBE; Brainstem auditory evoked potential abnormality ratios were 3/5,1/4 respectively,with wave Ⅰ latency or amplitude abnormality.Conclusion The similarities of clinical and electrophysiological features suggest that MFS and BBE have the same mechanism and they form a continuous spectrum with variable central nervous system and peripheral nervous system involvement.

  5. A clinical and pathological analysis of 29 patients with mitochondrial disorders%29例线粒体病患者临床及病理资料分析

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    靳陶然; 沈宏锐; 李娜; 赵哲; 邴琪; 李楠; 胡静


    Objective To study the clinical and pathological features and pathogenesis of mitochondrial disorders (MIDs).Methods The clinical,laboratory,pathological and ultrastructure characteristics of 29 patients with MIDs,admitted to our hospital from 2005 to 2012,were analyzed.Results Main clinical manifestations of MIDs were exercise intolerance,amyosthenia,amyotrophy,external ophthalmoplegia and disturbance of intelligence,psychonosema,epilepsy and cerebral apoplexy;serum creatine kinase (CK) levels were normal or high; lactic acid levels were increased in many patients;myogenic or neurogenic changes/normals were showed by electromyograph examinations; part of them were with EEG abnormalities; MRI showed that encephalatrophy,myelinopathy and multifocal lesions not conforming to the distribution of major arteries existed.In muscle biopsy,plenty of ragged red fibers (RRF) scattered; the activity of cytochrome coxidase (COX) was decreased or absent in some fibers; in the succinodehydrogenase (SDH) stained small vessels,strong SDH-reactive blood vessels (SSV) was observed.Transmission electromicroscope analysis revealed that disordered mitochondria were markedly increased.Conclusions The clinical manifestations of MIDs are some diseases with multisystem disorders and their main symptoms include muscle and brain changes.Plenty of RRF scatter or SSV phenomenon is the main pathology.Skeletal muscle biopsy and pathological analysis are trustworthy methods for the definite diagnosis of MIDs; clinical manifestations often provide clews for typing and gene analysis.%目的 探讨线粒体病的临床、病理特点及发病机制. 方法 分析自2005年6月至2012年12月河北医科大学第三医院神经肌肉病科收治的29例线粒体病患者的临床资料,采用骨骼肌活检观察其病理特点,透射电镜观察其超微结构变化. 结果 (1)线粒体病临床主要表现为运动不耐受、肌无力、肌萎缩、外眼肌麻痹等骨骼肌受累症状以及智

  6. Clinical analysis of patients with brain injury in conjunction with ocular injury%颅脑外伤合并眼外伤患者临床分析

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    周伟; 张静楷; 毛春洁; 由彩云; 颜华


    Objective To investigate the condition of eye injury,the causes,the correlation with different kinds of brain trauma of traumatic brain injury combined with ocular injury.Methods In neurosurgery department,1036 patients were retrospectively analyzed.These patients had traumatic brain injuries in their first visiting.Forty-six patients out of 1036 had craniocerebral trauma combined with complex ocular injuries.These patients were analyzed to find the injured part of the eye,the causes,the relation with traumatic brain injuries,the treatment of ocular injuries and the recovery of their visual function.Results According to the medical records,40 patients of these 46 patients were men,accounting for 86.96%.Six patients were female,accounting for 13.04%.And their ages were from 15 to 72 years old with an average of (40.11 ± 11.89) years old.These patients included 13 cases of orbital wall fracture accounting for 28.26%,11 cases of eyelid complex laceration accounting for 23.91%,10 cases (11 eyes) of eyeball rupture accounting for 21.74%,7 cases of optic nerve injury accounting for 15.22% and 5 cases of other ocular injuries accounting for 10.87%.The causes for the injuries were traffic accidents in 28 cases (60.87%),violence in 7 cases (15.22%),explosion in 5 cases (10.87%) and others in 6 cases (13.04%).The treatments were as follows.Enucleation was done for 8 eyes out of 11 eyes with open ocular trauma due to the serious damage.Screening optic canal decompression was carried out for 3 patients with clear optic canal fracture in emergent treatment,and the vision was improved after the operation.For the other 4 patients,glucocorticoid impact therapy was carried out and only 1 patient had vision improvement.It was relatively easy to diagnose traumatic brain injuries combined with orbital wall fracture by CT and most of this kind of damages can be repaired by the subsequent surgery.For 2 patients with external ophthalmoplegia,the function of ocular

  7. Recstruct ophthalmic image examination to improve clinical diagnostic accuracy rate%重视眼科影像学检查提高临床诊断率

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    唐东润; 张楠; 殷海泉; 孙丰源; 简天明


    Objective To review and analyze reasons of misdiagnosis and missed diagnosis with the clinical routine eye examination and pay attention to imaging examinations to make up for deficiencies in clinical diagnosis.Methods Thirty-seven outpatients and inpatients of correcting diagnosis by imaging examinations were analyzed retrospectively from 2007 to 2008 at Tianjin Eye Hospital.Among them, 17 were males and 20 female between 6 and 75 years old. Results In 37 patients, 8 cases of carotid-cavernous fistula (2 cases of traumatic, 6 cases of spontaneous) were diagnosed as conjunctivitis or scleritis; 6 cases of traumatic orbital wall linear fracture children were diagnosed with ophthalmoplegia or muscle rupture, conservative treatment for 10 to 20 days was invalid; 2 cases of lymphoma and 3 cases of adenoid cystic carcinoma were diagnosed with orbital inflammatory pseudotumor; 2 cases of orbital rnabdomyosarcoma were diagnosed with inflammation; 2 cases of choroidal melanoma with orbital spread due to delay in treatment; 2 cases of frontal sinus mucous cyst and 1 case of absence of inferior rectus were diagnosed as paralytic strabismus; 1 case of sphenoid sinus skull base lesions and 1 case of intraocular lesion were diagnosed as perceptual strabismus; optic nerve meningioma and 1 case of lesion in intracranial space sellar sphenoid sinus were diagnosed for retrob-ulbar optic neuritis; 1 case of squamous cell carcinoma of lacrimal sac diagnosed as dacryocystitis; 4 cases of vascular tumor in bone were considered for osteoma by CT scan only with soft tissue window; 2 cases of traumatic intraorbital foreign body missed.The special show of color Doppler ultrasound of extraocular extension of choroidal melanoma was based on the pathological features of choroidal melanoma.Therefore, color Doppler ultrasound examination of eyes should be combined with other imaging examination method and analyzed comprehensively, in order to obtain a correct diagnosis and guide clinical

  8. 肌病伴管聚集的疾病谱系和病理改变分析%Clinical phenotypes and pathological features in myopathies with tubular aggregates

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    刘秀娟; 徐春晓; 赵亚雯; 张巍; 王朝霞; 袁云


    ,neurophysiological,pathological and genetic analysis,the diagnoses included 23 (40.35%) cases of periodic paralysis,7 (12.28%) cases of chronic alcohol intoxication,6 (10.53%) cases of congenital myasthenic syndrome,5 (8.77%) cases of exercise-induced cramps,3 (5.26%) cases of necrotizing myopathy,1 (1.75%) case of stromal interaction molecule 1-associated myopathy,limbgirdle muscular dystrophy 2E,myotonic dystrophy,myotonia congenita,paramyotonia congenitia,hypothyroid myopathy respectively.Other cases of unknown cause included unclassified distal myopathy,external ophthalmoplegia,white matter lesions,mental retardation,stroke,early onset weakness,pulmonary arterial hypertension.Besides TAs,pathological changes also included necrosis of muscle fibers (3 cases,5.26%),neurogenic changes (3 cases,5.26%) and muscular dystrophic changes (1 case,1.75%).Conclusions Our results indicated that TAs are usually found in males and could present in many types of hereditary or acquired neuromuscular disease as independent or accompanying changes.Periodic paralysis,chronic alcohol intoxication and congenital myasthenic syndrome are 3 major diseases causing myopathies with TAs.

  9. 线粒体脑肌病伴乳酸血症和卒中样发作190例的临床特征分析%Clinical features of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes:an analysis of 190 cases

    Institute of Scientific and Technical Information of China (English)

    张哲; 赵丹华; 刘靖; 左越焕; 熊晖; 吕鹤; 张巍; 袁云; 王朝霞


    Objective To summarize the clinical features of Chinese patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes ( MELAS).Methods A total of 190 patients with MELAS who presented to Peking University First Hospital between 1997 and 2015 were recruited.Among 190 patients, 175 were identified carrying mitochondrial DNA mutations, and the remaining 15 patients were diagnosed by muscle biopsy.The clinical features, including predisposing factors of stroke-like episodes, the onset symptoms and frequencies of various manifestations were analyzed and reported.Results In our cohort of MELAS patients, the male-to-female ratio was 1.44∶1.The median age of onset was 14 years ( from 7 months to 45 years).The peak onset ages were 8-12 years.The median onset age of the first stroke-like episode was 16 years ( from 1 to 53 years ).There were 66 ( 46.15%) patients who had predisposing factors before the onset, and fatigue and upper respiratory tract infection were the most common predisposing factors of stroke-like episodes in these patients ( 37.88%, 25/66 and 34.85%, 23/66, respectively).Other predisposing factors included emotional agitation, drinking alcohol, trauma, withdrawal of antiepileptic drugs, being frightened, satiation and hunger.Stroke-like episodes appeared in 70.53%(134/190) patients as an onset symptom and developed in all patients with disease progression.The neurological manifestations included seizure ( 89.42%, 169/189 ) , mental retardation or dementia (82.87%, 150/181), headache (74.30%, 133/179), hemianopia or cortical blindness (67.72%, 107/158), exercise intolerance (50.87%, 88/173), hemiplegia or hemianesthesia (47.44%, 74/156), sensorineural deafness (46.20%, 85/184), aphasia (39.47%, 60/152), behaviour disorder (17.71%, 31/175) and ophthalmoplegia ( 9.60%, 17/177 ).The manifestations of extra-nervous systems included hirsutism (67.57%, 100/148), vomiting (65.58%, 101/154), fever (62.07%, 90/145), short stature (45

  10. Atypical Findings of Guillain-Barré Syndrome in Children

    Directory of Open Access Journals (Sweden)

    Parvaneh KARIMZADEH


    . 2009 Nov;256(11:1899-905.Jin Park H, Hyang Lee K. Atypical Miller-Fisher Syndrome Presenting as an Isolated Internal Ophthalmoplegia Following Epstein-Barr Virus Infection. J Pediatr Care for review 2012 Mar; 20(1:39-42.Etem Pişkin I, Calık M, Yarımay G, Adresi Y. Neck stiffness in Guillaine-Barre syndrome subsequent to cytomegalovirus Infection. Dicle Med J. 2011;38(1:104-6.Koul R, Chacko A, Ahmed R, Varghese T, Javed H, Al-Lamki Z. Ten year prospective study (clinical spectrum of childhood Guillain Barré syndrome in the Arabian peninsula: comparison of  outcome in patients in the pre and post intravenous immunoglobulin eras. J Child Neurol. 2003;18(11:767-71.Linden V, da Paz JA, Casella EB, Marques-Dias MJ. Guillain-Barré syndrome in children: clinic, laboratorial and epidemiologic study of 61 patients. Arq Neuropsiquiatr. 2010 Feb;68(1:12-7.Winer JB, Hughes RA, Anderson MJ, Jones DM, Kangro H, Watkins RP. A prospective study of acute idiopathic neuropathy: II antecedent events. J Neurol Neurosurg Psychiatry. 1988 May;51(5:613-18.Ho TW, Mishu B, Li CY, Gao CY, Cornblath DR, Griffin JW et al. Guillain-Barre syndrome in northern China. Relationship to Campylobacter jejuni infection and anti-glycolipid antibodies. Brain. 1995 Jun;118(Pt 3:597-605.Bahou YG, Biary N, al Deeb S. Guillain-Barre syndrome: a series observed at Riyadh Armed Forces Hospital. J Neurol. 1996 Feb;243(2:147-52.Cosi V, Versino M. Guillain-Barré syndrome. J Neurol Sci. 2006;27 (Suppl 1:S47-S51.Winer JB. Guillain Barré syndrome. Mol Pathol. 2001 Dec;54(6:381-5.The prognosis and main prognostic indicators of Guillain-Barré syndrome: A multicentre prospective study of 297 patients. The Italian Guillan-Barre Study Group. Brain. 1996 Dec;119(Pt 6:2053-61.

  11. Increased Prevalence 12308 A > G mutation in Mitochondrial tRNALeu (CUN Gene Associated with earlier Age of Onset in Friedreich Ataxia

    Directory of Open Access Journals (Sweden)

    Mohammad Medhi HEIDARI


    chronic progressive external ophthalmoplegia. Nucleic Acids Res 1992;20(4:679-82.Harding AE. Friedreich ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104(3:589-620.Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, et al. Clinical description and roentgenologic evaluation of patients with Friedreich ataxia. Can J Neurol Sci 1976;3(4:279-86.Campuzano V, Monter mini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271(5254:1423-7.Tan DJ, Bai RK, Wong LJ. Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer Res 2002;62(4:972-6.Sanchez M, Anitua E, Azofra J, Andia I, Padilla S, Mujika I. Comparison of surgically repaired Achilles tendon tearsusing platelet-rich fibrin matrices. Am J Sports Med2007;35(2:245-51.Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature1981;290(5806:457-65.22. Marmolino D. Friedreich ataxia: past, present and future.Brain Res Rev 2011;67(1-2:311-30.Houshmand M, Mahmoudi T, Panahi MS, Seyedena Y,Saber S, Ataei M. Identification of a new human mt DNA polymorphism (A14290G in the NADH dehydrogenase subunit 6 gene. Braz J Med Biol Res 2006;39(6:725-30.Rona RJ, Reynolds A, Allsop M, Morris RW, Morgan M, Mandalia S. Audit from preschool developmental surveillance of vision, hearing, and language referrals. Arch Dis Child 1991;66(8:921-6.Heidari MM, Houshmand M, Hosseinkhani S, Nafissi S, Scheiber-Mojdehkar B, Khatami M. A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich ataxia. Cell Mol Neurobiol 2009;29(2:225-33.Covarrubias D, Bai RK, Wong LJ, Leal SM. Mitochondrial DNA variant interactions modify breast cancer risk. J Hum Genet 2008

  12. Clinical characteristics of eight cases with Kearns-Sayre syndrome in children%儿童Kearns-Sayre综合征8例临床分析

    Institute of Scientific and Technical Information of China (English)

    方方; 丁昌红; 肖静; 王晓慧; 吕俊兰; 马祎楠; 吴倩; 郎志奇


    cerebrospinal fluid protein increased^ > 1 000 mg ? L ). In seven cases with urine amino acid/organic acid analysis, four were normal, three were with ketonuria. No mutation was found in mtDNA A3243G, A8344G, T8993G, T8993C, A1555G, G11778A screening. Eight cases with MRI examination showed a bilaterally symmetrical hypointense on Tl weighted image, hyperintense on T2 and high flair signal in white matter, mainly in the subcortical white-matter of frontal and parietal lobe and cerebellum white-matter. In two cases, splenium of corpus callosum was affected. In one case, posterior limb of internal capsule was affected. In six cases, brain stem was affected, mainly in deutocerebrum and dorsal part of pontine tegmentum. Thalamus was affected in three cases and basal ganglia was affected in four cases. Six cases of muscle pathology who accepted histochemical examination revealed RRFs. Eight cases were observed under the electronmicroscope subsarcolemmal accumulation of mitochondria and morphologic abnormalities of mitochondria. By using southern blot analysis, in the samples of muscle large fragment mtDNA deletion of 6 kb was existed in one case. In 6 cases followed-up from 2 to 5 years, three patients died and three patients' course was slowly aggravatin. Conclusions KSS is rare in children. Clinical findings consist of bilateral ptosis, ophthalmoplegia, pigmentary retinopathy, cerebellar ataxia and cardiac conduction block. Clinical diagnosis can be made according to the clinical manifestation and muscle biopsy, and mtDNA deletion in muscle samples can confirm the diagnosis.

  13. Mitochondrial biogenesis: pharmacological approaches. (United States)

    Valero, Teresa


    Organelle biogenesis is concomitant to organelle inheritance during cell division. It is necessary that organelles double their size and divide to give rise to two identical daughter cells. Mitochondrial biogenesis occurs by growth and division of pre-existing organelles and is temporally coordinated with cell cycle events [1]. However, mitochondrial biogenesis is not only produced in association with cell division. It can be produced in response to an oxidative stimulus, to an increase in the energy requirements of the cells, to exercise training, to electrical stimulation, to hormones, during development, in certain mitochondrial diseases, etc. [2]. Mitochondrial biogenesis is therefore defined as the process via which cells increase their individual mitochondrial mass [3]. Recent discoveries have raised attention to mitochondrial biogenesis as a potential target to treat diseases which up to date do not have an efficient cure. Mitochondria, as the major ROS producer and the major antioxidant producer exert a crucial role within the cell mediating processes such as apoptosis, detoxification, Ca2+ buffering, etc. This pivotal role makes mitochondria a potential target to treat a great variety of diseases. Mitochondrial biogenesis can be pharmacologically manipulated. This issue tries to cover a number of approaches to treat several diseases through triggering mitochondrial biogenesis. It contains recent discoveries in this novel field, focusing on advanced mitochondrial therapies to chronic and degenerative diseases, mitochondrial diseases, lifespan extension, mitohormesis, intracellular signaling, new pharmacological targets and natural therapies. It contributes to the field by covering and gathering the scarcely reported pharmacological approaches in the novel and promising field of mitochondrial biogenesis. There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS

  14. SUCLA2相关脑肌病型线粒体DNA耗竭综合征一例并文献复习%SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature

    Institute of Scientific and Technical Information of China (English)

    刘志梅; 方方; 丁昌红; 吴沪生; 吕俊兰; 伍妘


    profiling.MRI showed brain atrophy-like and bilateral T2 hyperintensities in bilateral caudate nuclei and putamen.By Next-Generation Sequencing (NGS),we identified a novel homozygous missense mutation (c.970G > A) in the SUCLA2 in a highly conserved amino acid residue.(2) The total number was only 25 with a male to female ratio of 14:11,and age of onset of 23 was 0-4 months.The most common clinical features in patients with SUCLA2 mutation were permanent hypotonia,muscle atrophy,psychomotor retardation and scoliosis or kyphosis.Frequent signs included hearing impairment,hyperkinesia,dystonia or athetoid movements,feeding difficulties,growth retardation and ptosis or ophthalmoplegia.Epilepsy was occasionally observed.The combination of lactic acidemia,mild MMA-uria and increased C3-carnitine and C4-dicarboxylic-carnitine in plasma carnitine ester profiling were characteristic markers.MRI showed brain atrophy-like and bilateral basal ganglia involvement (mainly the putamen and caudate nuclei).Nineteen patients originated from Europe,with 13 of whom originated from Faroe Islands that carry a homozygous mutation (c.534 + 1G > A) in SUCLA2.Conclusion SUCLA2-related encephalomyopathic MDS is characterized by onset of severe hypotonia in early infancy,feeding difficulties,growth retardation,psychomotor retardation and hearing impairment.Metabolic findings usually include lactic acidemia,mild MMA-uria and increased C3-carnitine and C4-dicarboxylic-carnitine in plasma carnitine ester profiling.MRI showed brain atrophy-like and bilateral basal ganglia involvement (mainly the putamen and caudate nuclei).SUCLA2 pathogenic mutations would confirm the diagnosis.