Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report.

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Soldath, Patrick; Madsen, Karen Lindhardt; Buch, Astrid Emilie; Duno, Morten; Wibrand, Flemming; Vissing, John

2017-10-19

Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most of known cases have not been assessed by objective testing, but only by interview. We report a patient with a mitochondrial DNA (mtDNA) mutation that gives rise to an exclusive myopathy associated with exercise intolerance and ophthalmoplegia. We quantified the patient's exercise intolerance through detailed exercise testing. A 39-year-old man presented with exercise intolerance and chronic progressive external ophthalmoplegia. Sequencing of the entire mtDNA identified a m.12,294G > A mutation in the MT-TL2 gene. The mutation was heteroplasmic in skeletal muscle (75%) while undetectable in blood, urinary sediment, and buccal mucosa as well as in tissues from the patient's mother. The mutation affected a highly conserved site in the anticodon stem of the mitochondrial transfer RNA Leucine (CUN) molecule and lead to a severe combined respiratory chain defect. Exercise physiological studies in the patient demonstrated a significantly reduced maximal oxygen uptake of 20.4 ml O 2  × min -1  × kg -1 (about half of normal) as well as threefold elevated lactate/pyruvate ratios. The findings of our study support that the m.12,294G > A mutation is pathogenic. Likely, the mutation arose sporadically in early embryogenesis after differentiation of the mesoderm into muscle progenitor cells, leading to a pure myopathic phenotype.

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

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Tafakhori, Abbas; Yu Jin Ng, Alvin; Tohari, Sumanty; Venkatesh, Byrappa; Lee, Hane; Eskin, Ascia; Nelson, Stanley F; Bonnard, Carine; Reversade, Bruno; Kariminejad, Ariana

2016-02-01

TWINKLE (c10orf2) gene is responsible for autosomal dominant progressive external ophthalmoplegia (PEO). In rare cases, additional features such as muscle weakness, peripheral neuropathy, ataxia, cardiomyopathy, dysphagia, dysphonia, cataracts, depression, dementia, parkinsonism, and hearing loss have been reported in association with heterozygous mutations of the TWINKLE gene. We have studied a large Iranian family with myopathy, dysphonia, dysphagia, and behavior change in addition to PEO in affected members. We identified a missense mutation c.1121G > A in the c10orf2 gene in all affected members. Early death is a novel feature seen in affected members of this family that has not been reported to date. The association of PEO, myopathy, dysphonia, dysphagia, behavior change and early death has not been previously reported in the literature or other patients with this mutation.

Outcome of Ptosis Surgery in Patients with Chronic Progressive External Ophthalmoplegia

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Şeyda Uğurlu

2014-10-01

Full Text Available Objectives: To evaluate the clinical features and the outcome of ptosis surgery in patients with chronic progressive external ophthalmoplegia (CPEO. Materials and Methods: The demographic features, surgical approaches, anatomic and functional outcomes, and complications were reviewed in patients with CPEO who had undergone ptosis surgery by a single surgeon between the years 2005 and 2013. The patients were asked to evaluate their postoperative result as either worse, no change, good, or very good. Results: Seven men and 5 women with an average age of 50±14.08 years (range: 28-72 were included in the study. Ragged red fibers (RRF were identified in 5 out of 9 patients’ levator and orbicularis muscle biopsy specimens. Average levator function was 5.4±2.6 mm (range: 2-9. Frontalis suspension surgery with silicone rod was performed in 8 patients; two of those 8 patients had lower lid elevation with hard palate graft prior to ptosis surgery. The remaining 4 patients had levator resection. Postoperative margin reflex distance -1 was between +1 and +3 in all patients. One patient had punctate keratopathy following surgery, which responded rapidly to intensive use of lubricants. Head position was improved in all patients; postoperative result was rated ‘very good’. Conclusion: Eyelid elevation must be tailored to result in sufficient interpalpebral area so as to allow for normal visual function and avoid exposure keratopathy. Lower eyelid elevation with hard palate graft may help to achieve this goal by displacing the interpalpebral area superiorly without introducing additional risk for corneal exposure. (Turk J Ophthalmol 2014; 44: 379-83

31P NMR examination of a case of progressive external ophthalmoplegia with focal cytochrome c oxidase deficiency

International Nuclear Information System (INIS)

Okazawa, Hitoshi; Sakuta, Manabu; Kawai, Mitsuru; Itoh, Masamitsu; Motoyoshi, Yasufumi.

1988-01-01

A 30-year-old man of histochemically confirmed focal cytochrome c oxidase deficiency (FCCOD) with chronic progressive external ophthalmoplegia and mild weakness of upper extremities was examined by 31 P NMR spectroscopy using whole body MR. The activities of enzymes of respiratory chain ; complex I-III, complex II-III and complex IV, in mitochondrial fraction of biopsied muscle were all normal. At rest, the ratio of phosphocreatine (PCr) to inorganic phosphate (Pi) was normal value of 7.0. After the exercise of 90 watt for 3 minutes using ergometer, PCr/Pi ratio dropped to 2.6 and the recovery of the ratio prolonged for 8 minutes. We could not decide cytoplasmic pH because the peak of Pi at rest was relatively obscure. These results confirmed the existance of impairment of ATP production in our case, though the decreased activities of enzymes could not be shown by the biochemical analysis. We would like to stress the diagnostic importance of 31 P NMR spectroscopy in mitochondrial cytopathy whose chemical abnormalities are not always easy to find out. (author)

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene

DEFF Research Database (Denmark)

Soldath, Patrick; Madsen, Karen Lindhardt; Buch, Astrid Emilie

2017-01-01

BACKGROUND: Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most of known cases have not been assessed by objec......BACKGROUND: Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most of known cases have not been assessed...... by objective testing, but only by interview. We report a patient with a mitochondrial DNA (mtDNA) mutation that gives rise to an exclusive myopathy associated with exercise intolerance and ophthalmoplegia. We quantified the patient's exercise intolerance through detailed exercise testing. CASE PRESENTATION...... a significantly reduced maximal oxygen uptake of 20.4 ml O2 × min-1 × kg-1 (about half of normal) as well as threefold elevated lactate/pyruvate ratios. CONCLUSION: The findings of our study support that the m.12,294G > A mutation is pathogenic. Likely, the mutation arose sporadically in early embryogenesis after...

The Classification and Prognosis of Periocular Complications Related to Blindness following Cosmetic Filler Injection.

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Myung, Yujin; Yim, Sangjun; Jeong, Jae Hoon; Kim, Baek-Kyu; Heo, Chan-Yeong; Baek, Rong-Min; Pak, Chang-Sik

2017-07-01

Common side effects during hyaluronic acid filler injections are typically mild and reversible, but several reports of blindness have received attention. The present study focused on orbital symptoms combined with blindness, aiming to classify affected patients and predict their disease course and prognosis. From September of 2012 to August of 2015, nine patients with vision loss after filler injection were retrospectively reviewed. Ptosis, ophthalmoplegia, and enophthalmos were recorded over a 6-month follow-up, and patients were classified into four types according to periocular symptom manifestation. Two patients were categorized as type I (blindness without ptosis or ophthalmoplegia), two patients as type II (blindness and ptosis without ophthalmoplegia), two patients as type III (blindness and ophthalmoplegia without ptosis), and three patients as type IV (blindness with ptosis and ophthalmoplegia). The present study includes previously unpublished information about orbital symptom manifestations and prognosis combined with blindness caused by retinal artery occlusion after cosmetic filler injection. Therapeutic, V.

A Case of Miller Fisher Syndrome, Thromboembolic Disease, and Angioedema: Association or Coincidence?

OpenAIRE

Salehi, Nooshin; Choi, Eric D.; Garrison, Roger C.

2017-01-01

Patient: Male, 32 Final Diagnosis: Miller Fisher syndrome Symptoms: Ataxia ? headache ? ophthalmoplegia Medication: ? Clinical Procedure: Plasmapheresis Specialty: Neurology Objective: Rare co-existance of disease or pathology Background: Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1?5% of all Guillain-Barre cases in Wes...

Orbital phlebography in patients with Tolosa-Hunt's syndrome in comparison with normal subjects

International Nuclear Information System (INIS)

Hannerz, J.; Ericson, K.; Bergstrand, G.; Karolinska Sjukhuset, Stockholm

1984-01-01

Orbital phlebography has been reported to be pathologic in some patients with Tolosa-Hunt's syndrome (recurrent painful ophthalmoplegia). A systematic study of the phlebographic findings in Tolosa-Hunt's syndrome in comparison with a normal material seems not to have been performed. In this investigation, orbital phlebography was performed in 19 patients with Tolosa-Hunt's syndrome and in a reference group of 23 persons without the disease. In 13 of 19 patients (68%) with Tolosa-Hunt's syndrome, the phlebography was pathologic (narrowing or occlusion of particularly the third segment of the superior ophthalmic vein, partial occlusion of the cavernous sinus). Orbital phlebography was normal in all but one of the subjects in the reference group. The medical history of this subject in retrospect revealed symptoms other than painful ophthalmoplegia commonly found in patients with Tolosa-Hunt's syndrome, suggesting that he suffered from a variant of the disease causing the syndrome. In one patient with recurrent painful ophthalmoplegia a biopsy from an eye muscle showed venous vasculitis, probably indicating the basic pathology behind the phlebographic changes in patients with Tolosa-Hunt's syndrome. (orig.)

Disease: H01384 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available sson O, Jonasson J, Landtblom AM ... TITLE ... Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. ... JOURNAL ... Acta Myol 30:188-90 (2011) ...

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

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Ting Chen

2016-01-01

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.

Conjugate Gaze Palsies

Science.gov (United States)

... version Home Brain, Spinal Cord, and Nerve Disorders Cranial Nerve Disorders Conjugate Gaze Palsies Horizontal gaze palsy Vertical ... Version. DOCTORS: Click here for the Professional Version Cranial Nerve Disorders Overview of the Cranial Nerves Internuclear Ophthalmoplegia ...

Ophthalmoplegia, Dysphonia and Tetraparesis Due to Guillain ...

African Journals Online (AJOL)

Guillain-Barre's syndrome (GBS) or inflammatory/post-infectious acute polyradiculoneuropathy is due to demyelination of nerves, causing a progressive paresis or paralysis. It usually begins in the legs and sometimes goes up to the respiratory muscles and cranial nerves. The exact mechanism of GBS occurrance is still ...

Two Cases of Isolated Internuclear Presenting Ophthalmoplegia

OpenAIRE

Tuğçe Mengi; Özge Gökmuharremoğlu; Nazlı Hasanzadeh; Mehmet Çelebisoy; Mustafa Fazıl Gelal

2014-01-01

Internuclear ophtalmoplegia (INO) is a gaze disorder caused by medial longitudinal fasciculus (MLF) injury and is characterized by impairment of adduction in the ipsilateral eye and dissociated nystagmus in the contralateral eye. INO usually develops due to lesions caused by multiple sclerosis or stroke, and rarely to head trauma. Disseciton of vertebral artery is an often overlooked cause of stroke, especially in young adults. Dissection of vertebral artery should be considered in differenti...

Two Cases of Isolated Internuclear Presenting Ophthalmoplegia

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Tuğçe Mengi

2014-12-01

Full Text Available Internuclear ophtalmoplegia (INO is a gaze disorder caused by medial longitudinal fasciculus (MLF injury and is characterized by impairment of adduction in the ipsilateral eye and dissociated nystagmus in the contralateral eye. INO usually develops due to lesions caused by multiple sclerosis or stroke, and rarely to head trauma. Disseciton of vertebral artery is an often overlooked cause of stroke, especially in young adults. Dissection of vertebral artery should be considered in differential diagnosis in patients with clinical findings of brain stem dysfunction and a history of head trauma. This paper discusses two cases of INO.

MOG-IgG in NMO and related disorders: A multicenter study of 50 patients. Part 3

DEFF Research Database (Denmark)

Jarius, Sven; Kleiter, Ingo; Ruprecht, Klemens

2016-01-01

identified. All were negative for AQP4-IgG. Symptoms included respiratory insufficiency, intractable nausea and vomiting (INV), dysarthria, dysphagia, impaired cough reflex, oculomotor nerve palsy and diplopia, nystagmus, internuclear ophthalmoplegia (INO), facial nerve paresis, trigeminal hypesthesia...

Cephalic Tetanus from Penetrating Orbital Wound

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Eloïse Guyennet

2009-01-01

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.

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

African Journals Online (AJOL)

The clinical triad of mild confusion, ataxia and ophthalmoplegia also raised the possibility of Wernicke's encephalopathy (WE). The diagnosis of WE was further supported by the magnetic resonance imaging features. Owing to overlapping causal factors, this case illustrates the complexity of diagnosing and managing ...

Localized Cerebral Energy Failure in DNA Polymerase Gamma-Associated Encephalopathy Syndromes

Science.gov (United States)

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

2010-01-01

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…

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

African Journals Online (AJOL)

tions such as anorexia nervosa, dieting, starvation, gastrointestinal surgery or hyperemesis gravidarum. The classic triad of encepha- lopathy, oculomotor dysfunction/ophthalmoplegia and gait ataxia may not be present in all patients; hence, a high index of suspicion is necessary to recognise and treat the condition early.

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)

1999-07-01

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.

Wernicke's Encephalopathy in a Nigerian with Schizophrenia ...

African Journals Online (AJOL)

While Wernicke's encephalopathy (WE) is a well-characterized syndrome in alcoholism and malnutrition, little is written of its prevalence or presentation in patients with psychiatric illness. We present a case of a 37-year-old Nigerian male with schizophrenia and malnutrition who presented with delirium and ophthalmoplegia ...

Central nervous system tuberculomata presenting as internuclear ...

African Journals Online (AJOL)

Central nervous system (CNS) tuberculoma can have variable presentation depending upon the site and number of tuberculomata. We are reporting a rare case of a 15 years old girl who presented to our hospital with binocular diplopia on right gaze. Clinical examination revealed left sided internuclear ophthalmoplegia ...

The Tolosa-Hunt syndrome | Sandyk | South African Medical Journal

African Journals Online (AJOL)

The Tolosa-Hunt syndrome. or painful ophthalmoplegia. is a rare condition caused by a granulomatous nonspecific process at the level of anterior cavernous sinus. superior orbital fissure and orbital apex. The syndrome is characterized by pain behind. above or around the eye. involvement of the cranial nerves which pass ...

Management of bilateral orbital cellulitis in a 41-year-old man ...

African Journals Online (AJOL)

We report a case of a bilateral disease in a healthy middle-aged man who presented with fevers, diminished vision, eye pains, lid swellings, severe ptosis, axial proptosis and ophthalmoplegia in both eyes. Our impression was that of Class 5 orbital cellulitis according to Chandler's classifi cation. His laboratory investigations ...

Author Details

African Journals Online (AJOL)

Itoua, C. Vol 92, No 4 (2015) - Articles Ophthalmoplegia, Dysphonia and Tetraparesis Due to Guillain-Barre's Syndrome in Pregnant at 14 Weeks of Gestation: Case Report Abstract · Vol 92, No 5 (2015) - Articles Retinoblastoma: Assessing the Level of Knowledge of Tumour By Midwives in Brazzaville Abstract · Vol 92, No 6 ...

Orbital apex syndrome associated with herpes zoster ophthalmicus

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Kurimoto T

2011-11-01

Full Text Available Takuji Kurimoto1, Masahiro Tonari1, Norihiko Ishizaki1, Mitsuhiro Monta2, Saori Hirata2, Hidehiro Oku1, Jun Sugasawa1, Tsunehiko Ikeda11Department of Ophthalmology, Osaka Medical College, 2Department of Ophthalmology, Shitennoji Hospital, Osaka, JapanAbstract: We report our findings for a patient with orbital apex syndrome associated with herpes zoster ophthalmicus. Our patient was initially admitted to a neighborhood hospital because of nausea and loss of appetite of 10 days' duration. The day after hospitalization, she developed skin vesicles along the first division of the trigeminal nerve, with severe lid swelling and conjunctival injection. On suspicion of meningoencephalitis caused by varicella zoster virus, antiviral therapy with vidarabine and betamethasone was started. Seventeen days later, complete ptosis and ophthalmoplegia developed in the right eye. The light reflex in the right eye was absent and anisocoria was present, with the right pupil larger than the left. Fat-suppressed enhanced T1-weighted magnetic resonance images showed high intensity areas in the muscle cone, cavernous sinus, and orbital optic nerve sheath. Our patient was diagnosed with orbital apex syndrome, and because of skin vesicles in the first division of the trigeminal nerve, the orbital apex syndrome was considered to be caused by herpes zoster ophthalmicus. After the patient was transferred to our hospital, prednisolone 60 mg and vidarabine antiviral therapy was started, and fever and headaches disappeared five days later. The ophthalmoplegia and optic neuritis, but not the anisocoria, gradually resolved during tapering of oral therapy. From the clinical findings and course, the cause of the orbital apex syndrome was most likely invasion of the orbital apex and cavernous sinus by the herpes virus through the trigeminal nerve ganglia.Keywords: varicella zoster virus, orbital apex syndrome, herpes zoster ophthalmicus, complete ophthalmoplegia

Central Retinal and Posterior Ciliary Artery Occlusion After Intralesional Injection of Sclerosant to Glabellar Subcutaneous Hemangioma

International Nuclear Information System (INIS)

Matsuo, Toshihiko; Fujiwara, Hiroyasu; Gobara, Hideo; Mimura, Hidefumi; Kanazawa, Susumu

2009-01-01

The aim of this study is to describe vision loss caused by central retinal artery and posterior ciliary artery occlusion as a consequence of sclerotherapy with a polidocanol injection to a glabellar hemangioma. An 18-year-old man underwent direct injection with a 23-gauge needle of 1 mL of a polidocanol-carbon dioxide emulsion into the glabellar subcutaneous hemangioma under ultrasound visualization of the needle tip by radiologists. He developed lid swelling the next day, and 3 days later at referral, the visual acuity in the left eye was no light perception. Funduscopy revealed central retinal artery occlusion and fluorescein angiography disclosed no perfusion at all in the left fundus, indicating concurrent posterior ciliary artery occlusion. The patient also showed mydriasis, blepharoptosis, and total external ophthalmoplegia on the left side. Magnetic resonance imaging demonstrated the swollen medial rectus muscle. In a month, blepharoptosis and ophthalmoplegia resolved but the visual acuity remained no light perception. Sclerosing therapy for facial hemangioma may develop a severe complication such as permanent visual loss.

A Case of Miller Fisher Syndrome, Thromboembolic Disease, and Angioedema: Association or Coincidence?

Science.gov (United States)

Salehi, Nooshin; Choi, Eric D; Garrison, Roger C

2017-01-16

BACKGROUND Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1-5% of all Guillain-Barre cases in Western countries. Patients with Miller Fisher Syndrome usually have good recovery without residual deficits. Venous thromboembolism is a common complication of Guillain-Barre Syndrome and has also been reported in Miller Fisher Syndrome, but it has generally been reported in the presence of at least one prothrombotic risk factor such as immobility. A direct correlation between venous thromboembolism and Miller Fisher Syndrome or Guillain-Barre Syndrome has not been previously described. CASE REPORT We report the case of a 32-year-old Hispanic male who presented with acute, severe thromboembolic disease and concurrently demonstrated characteristic clinical features of Miller Fisher Syndrome including ophthalmoplegia, ataxia, and areflexia. Past medical and family history were negative for thromboembolic disease, and subsequent hypercoagulability workup was unremarkable. During the course of hospitalization, the patient also developed angioedema. CONCLUSIONS We describe a possible association between Miller Fisher Syndrome, thromboembolic disease, and angioedema.

To wait for a spontaneous recovery of the third cranial nerve palsy occurring after the coiling of a PcomA aneurysm or to implement surgical treatment? A case report

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Peulić Miodrag

2017-01-01

Full Text Available Introduction. In the last two decades a method of endovascular embolization has been imposed as a method of choice in the treatment of unruptured intracranial aneurysms. Therefore, the problem of treating posterior communicating artery (PComA aneurysms presenting with the third cranial nerve (TCN palsy has become even more complex. The case of a patient reported in the paper itself has presented a dilemma of whether to wait for spontaneous resolution of ophthalmoplegia developed after the coiling of a PComA aneurysm or whether to implement an early surgical treatment. Case report. An unruptured saccular aneurysm, directed inferolaterally in the right internal carotid artery (ICA segment in the position of the PcomA origin, was diagnosed in a 58-year-old male patient. The aneurysm was measuring 9 mm in diameter while the neck was measuring 5 mm. The day before the planned embolization, the patient developed ipsilateral ophthalmoparesis, whereas the first day after the endovascular procedure was completed, the patient developed right-sided complete ophthalmoplegia. Ten weeks after the endovascular embolization our team decided to perform a microsurgical treatment including aneurysm clipping and coil extraction. Eighteen months after the surgery, the patient made a full recovery of the functions of musculus (m levator palpabrae, m. rectus medialis and pupillary function, with a partial recovery of the functions of m. obliqus inferior, m. rectus inferior and m. rectus superior. Conclusion. According to medical research and literature, the partial recovery of the TCN palsy is expected to happen in the first few weeks after embolization. Despite the completion of endovascular treatment progression of ophthalmoparesis to ophthalmoplegia without any simptoms of clinical improvement after 10 weeks is considered to be an indicator of longstanding TCN compression, which can lead to irreversible nerve damage. Despite the increase in the use of an

Ophthalmople gic cranial neuropathy: clinical case

OpenAIRE

N. S. Dozorova; A. S. Kotov; E. V. Mukhina

2018-01-01

Ophthalmoplegic cranial neuropathy (OCN) is a disease with unknown etiology, which manifests itself by episodes of intense headache, accompanied by completely or partially reversible dysfunction of the oculomotor nerve: ptosis, mydriasis and ophthalmoplegia. It is assumed that the pathology is demyelinating in nature, therefore in the International classification of headaches OCN excluded from rubric migraine and related to the painful cranial neuropathies. The question of the prevention and ...

Temporary Blindness after Inferior Alveolar Nerve Block.

Science.gov (United States)

Barodiya, Animesh; Thukral, Rishi; Agrawal, Shaila Mahendra; Rai, Anshul; Singh, Siddharth

2017-03-01

Inferior Alveolar Nerve Block (IANB) anaesthesia is one of the common procedures in dental clinic. This procedure is safe, but complications may still occur. Ocular complications such as diplopia, loss of vision, or ophthalmoplegia are extremely rare. This case report explains an event where due to individual anatomic variation of the sympathetic vasoconstrictor nerve and maxillary and middle meningeal arteries, intravascular administration of anaesthetic agent caused unusual ocular signs and symptoms such as temporary blindness.

A pediatric case of pituitary macroadenoma presenting with pituitary apoplexy and cranial nerve involvement: case report

OpenAIRE

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

2016-01-01

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 apople...

Wernicke Encephalopathy after Gastrointestinal Surgery

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Semra Saygi

2015-09-01

Full Text Available We herein describe a child operated for acute abdomen who developed Wernickes encephalopathy (WE secondary to prolonged total parenteral nutrition (TPN that lacked vitamin B1 supplementation. The author concluded that surgeons, child neurologists, pediatricians and radiologists need to be aware of the predisposing factors and symptoms of WE. Clinicians need to keep in mind that ophthalmoplegia, ataxia or altered mental status could be findings of WE. [Cukurova Med J 2015; 40(3.000: 627-631

Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene

OpenAIRE

Morán, María; Blázquez, A.; Fiuza Luces, María del Carmen; Díez Bermejo, Jorge; Delmiro, Aitor; Docampo, J.; Serrano Lorenzo, Pablo; González Quintana, Adrián; Arenas, Joaquín; Laín Hernández, A.; Lucía Mulas, Alejandro; Domínguez González, C.; Martín, M.

2016-01-01

Mutations in the POLG gene, encoding the mitochondrial DNA (mtDNA) polymerase subunit gamma-1, have been identified in severe mtDNA depletion syndromes and mtDNA deletion disorders which include ataxia neuropathy spectrum disorders and AR and AD forms of progressive external ophthalmoplegia (PEO) and PEO-plus disorders. We report on a family with exercise intolerance. The proband was a 50-year-old man with severe muscle pain and premature fatigue after exercise of mild to moderate intensity. ...

Endoscopic endonasal transsphenoidal surgery in elderly patients with pituitary adenomas.

Science.gov (United States)

Gondim, Jackson A; Almeida, João Paulo; de Albuquerque, Lucas Alverne F; Gomes, Erika; Schops, Michele; Mota, Jose Italo

2015-07-01

With the increase in the average life expectancy, medical care of elderly patients with symptomatic pituitary adenoma (PA) will continue to grow. Little information exists in the literature about the surgical treatment of these patients. The aim of this study was to present the results of a single pituitary center in the surgical treatment of PAs in patients > 70 years of age. In this retrospective study, 55 consecutive elderly patients (age ≥ 70 years) with nonfunctioning PAs underwent endoscopic transsphenoidal surgery at the General Hospital of Fortaleza, Brazil, between May 2000 and December 2012. The clinical and radiological results in this group were compared with 2 groups of younger patients: surgery for treatment of PAs. The mean follow-up period was 50 months (range 12-144 months). The most common symptoms were visual impairment in 38 (69%) patients, headache in 16 (29%) patients, and complete ophthalmoplegia in 6 (10.9%). Elderly patients presented a higher incidence of ophthalmoplegia (p = 0.032) and a lower frequency of pituitary apoplexy before surgery (p transsphenoidal surgery for elderly patients with PAs may be associated with higher complication rates, especially secondary to early transitory complications, when compared with surgery performed in younger patients. Although the worst preoperative clinical status might be observed in this group, age alone is not associated with a worst final prognosis after endoscopic removal of nonfunctioning PAs.

Clinical characteristics and course of dying in patients with amyotrophic lateral sclerosis withdrawing from long-term ventilation.

Science.gov (United States)

Kettemann, Dagmar; Funke, Andreas; Maier, André; Rosseau, Simone; Meyer, Robert; Spittel, Susanne; Münch, Christoph; Meyer, Thomas

2017-02-01

Non-invasive ventilation (NIV) or tracheotomy with invasive ventilation (TIV) are treatment options in ALS. However, a proportion of patients receiving long-term ventilation decide to have it withdrawn. The objective of this study was to analyse the clinical characteristics and palliative approaches in ALS patients withdrawing from long-term ventilation (WLTV). In a cohort study, two different palliative concepts in WLTV were studied: (1) augmented symptom control (ASC; sedation not intended) in patients with ventilator-free tolerance; (2) continuous deep sedation (CDS; sedation intended) in patients without ventilator-free tolerance. Results showed that WLTV was realised in 49 ALS patients (NIV = 13; TIV = 36). Mean daily ventilation was 23.4 h. The ALS Functional Rating Scale (ALSFRS-R) was low (5.6 of 48). Forty-one per cent of patients (n = 20) presented with ophthalmoplegia. ASC was performed in 20 patients, CDS in 29 patients. The mean time to death following disconnection was 32 (0.3-164) h during ASC and 0.3 (0.2-0.6) h in CDS. In conclusion, a low ALSFRS-R, high incidence of ophthalmoplegia and extended ventilator dependency were found before WLTV. The presence or absence of ventilator-free tolerance determined the approach to the management of symptoms, the setting for immediate end-of-life care and the course of dying in WLTV.

Cogan’s anterior internuclear ophthalmoplegia in young Ethiopian

African Journals Online (AJOL)

Yeshigeta Gelaw

2014-06-16

Jun 16, 2014 ... Supranuclear ocular motor disorders can be caused by brain- stem, cerebellar or ... in the left eye and ataxic abducting nystagmus in the right eye on right gaze ... The gender (female sex) of the patient is also another supportive risk ... precede, occur concurrently with, or follow the development of bilateral ...

An evaluation of supervoltage orbital irradiation for Graves' opthalmopathy

International Nuclear Information System (INIS)

Teng, C.S.; Crombie, A.L.; Hall, R.; Ross, W.M.

1980-01-01

Twenty patients with moderately severe ophthalmopathy due to Graves' disease or ophtalmic Graves' disease were treated by supervoltage orbital radiotherapy generated by a linear accelerator. Seven patients (35%) showed some response within 3 weeks of the treatment, four patients (20%) improved minimally while nine patients (45%) were unchanged. Improvement was noted mainly in soft tissue changes while proptosis decreased in only four patients. With one exception, ophthalmoplegia did not improve after the radiotherapy. The benefit obtained with the treatment was not impressive. (author)

A magic bullet to specifically eliminate mutated mitochondrial genomes from patients' cells

Science.gov (United States)

Moraes, Carlos T

2014-01-01

When mitochondrial diseases result from mutations found in the mitochondrial DNA, engineered mitochondrial-targeted nucleases such as mitochondrial-targeted zinc finger nucleases are shown to specifically eliminate the mutated molecules, leaving the wild-type mitochondrial DNA intact to replicate and restore normal copy number. In this issue, Gammage and colleagues successfully apply this improved technology on patients' cells with two types of genetic alterations responsible for neuropathy ataxia and retinitis pigmentosa (NARP) syndrome and Kearns Sayre syndrome and progressive external ophthalmoplegia (PEO). PMID:24623377

A case of traumatic MLF syndrome with a CT demonstration of a small hemorrhagic legion

International Nuclear Information System (INIS)

Ban, Sadahiko; Ogata, Masahiro; Miyamoto, Takeshi; Tabuchi, Tetsu

1981-01-01

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. (author)

Orbital Apex Syndrome Resulting from Mixed Bacterial Sphenoid Sinusitis

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Mengfei Xiong

2018-05-01

Full Text Available Orbital apex syndrome (OAS is an uncommon disorder characterized by visual loss, ophthalmoplegia, ptosis and hypoaesthesia of the forehead[1]. OAS may result from a variety of inflammatory, infectious, neoplastic and vascular conditions that cause damage to the superior orbital fissure (with resultant oculomotor (III, trochlear (IV, abducens (VI and ophthalmic branch of the trigeminal nerve (V1 palsies and to the optic canal leading to optic nerve (II dysfunction. This case report describes the clinical development of OAS in a patient with bacterial sphenoid sinusitis.

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

Energy Technology Data Exchange (ETDEWEB)

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

1981-12-01

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.

Leigh's subacute necrotizing encephalomyelopathy: Possible diagnosis by CT scan

International Nuclear Information System (INIS)

Chi, J.G.; Yoo, H.W.; Chang, K.H.; Kim, C.W.; Moon, H.R.; Ko, K.W.

1981-01-01

A 28-month-old Korean girl developed a rapidly progressive disease, characterized by disturbance of consciousness, tremor, nystagmus, ophthalmoplegia, irregular deep respiration and vomiting. The patient succumbed 2 weeks after the onset of the illness. CT scan disclosed bilaterally symmetrical, low density lesions in the white matter and lateral basal ganglia. Distinctive histopathological findings at postmortem included spongiotic necrosis of the neuropil, marked capillary vascularity, persistence of relatively normal neurons in severely damaged zones, and comparatively little astrocytosis. The bilaterally symmetrical distribution of these changes in the putamen and periaqueductal gray matter of the midbrain were compatible with Leigh's disease. (orig.)

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

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S. Lanfranconi

2011-01-01

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.

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)

2007-07-01

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.

Characterizing POLG ataxia: clinics, electrophysiology and imaging.

Science.gov (United States)

Synofzik, Matthis; Srulijes, Karin; Godau, Jana; Berg, Daniela; Schöls, Ludger

2012-12-01

Mutations in the mitochondrial DNA polymerase gamma (POLG) cause a highly pleomorphic disease spectrum, and reports about their frequencies in ataxia populations yield equivocal results. This leads to uncertainties about the role of POLG genetics in the workup of patients with unexplained ataxia. A comprehensive characterization of POLG-associated ataxia (POLG-A) will help guide genetic diagnostics and advance our understanding of the disease processes underlying POLG-A. Thirteen patients with POLG-A were assessed by standardized clinical investigation, nerve conduction studies, motor-evoked potentials, magnetic resonance imaging (MRI) and transcranial sonography (TCS). The findings were compared with 13 matched patients with Friedreich's ataxia (FA). In addition to the well-known POLG-associated features of chronic external ophthalmoplegia (100 %), areflexia to the lower extremity (100 %), impaired vibration sense (100 %), bilateral ptosis (69 %) and epilepsy (38 %), also hyperkinetic movement disorders were frequent in POLG-A patients, including chorea (31 %), dystonia (31 %) and myoclonus (23 %). Similar to FA, polyneuropathy was of sensory axonal type (100 %). In contrast to FA, none of the POLG-A patients showed impaired central motor conduction. TCS demonstrated less enlargement of the fourth ventricle and more diffuse cerebellar hyperechogenicity in POLG-A. Corresponding to TCS, MRI revealed no or only mild cerebellar atrophy in most POLG-A patients (85 %). POLG ataxia presents with the clinical characteristics of both afferent and cerebellar ataxia. Cerebellar alterations diffusely involve various parts of the cerebellum, yet cerebellar atrophy is generally mild. POLG-A presents with a high load of distinct non-ataxia features, namely, sensory neuropathy, external ophthalmoplegia, ptosis, epilepsy and/or hyperkinetic movement disorders. Involvement of the corticospinal tract, however, is rare.

Cerebellar and pontine tegmental hypermetabolism in miller-fisher syndrome

International Nuclear Information System (INIS)

Kim, Yu Kyrong; Kim, Ji Soo; Lee, Won Woo; Kim, Sang Eun

2007-01-01

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

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

2006-09-01

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.

Successful Treatment of Dental Infection-Induced Chronic Cavernous Sinus Thrombophlebitis With Antibiotics and Low-Molecular-Weight Heparin: Two Case Reports.

Science.gov (United States)

Li, Yuan; Zheng, Bo; Chen, Kangning; Gui, Li

2015-08-01

Two patients developed cavernous sinus thrombophlebitis from a tooth infection. A 36-year-old man experienced a severe headache with bilateral third and sixth cranial nerve palsies after extraction of his left upper third molar. Another 53-year-old diabetic man developed fever, headache, and bilateral complete ophthalmoplegia after a tooth infection. The brain magnetic resonance imaging scans of both patients showed bilateral cavernous sinus partial thrombosis. Broad-spectrum antibiotics plus low-molecular-weight heparin successfully resolved all symptoms. Both patients recovered fully without any recurrence at the 3-month follow-up visit. Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos Syndrome.

Science.gov (United States)

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

2014-02-01

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.

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

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Aral Ferihan

2009-11-01

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

Síndrome do ápice orbital associado com herpes zoster oftálmico em paciente HIV positivo: relato de caso Orbital apex syndrome and herpes zoster ophthalmicus in an HIV positive patient: case report

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João Baptista Nigro Santiago Malta

2004-12-01

Full Text Available O presente relato tem como objetivo apresentar um caso raro de síndrome do ápice orbital associado com herpes zoster oftálmico de prognóstico reservado em paciente HIV positivo que procurou o pronto-socorro com quadro clínico de lesões crostosas em hemiface esquerda, dolorosa, acompanhado de baixa acuidade visual, diminuição da sensibilidade corneal e oftalmoplegia completa do olho esquerdo. A síndrome do ápice orbital é entidade rara que se caracteriza por ptose, proptose, oftalmoplegia interna e externa (acometimento do II, III, IV e VI nervos cranianos, prejuízo funcional da primeira divisão do nervo trigêmeo (nervo oftálmico e graus variados de diminuição da acuidade visual. O tratamento do herpes zoster oftálmico baseia-se no uso de antivirais sistêmicos, sendo que o prognóstico irá variar conforme o acometimento ocular.To present a rare case of orbital apex syndrome associated with herpes zoster ophthalmicus of unfavorable prognosis in an HIV positive patient, who arrived at the Emergency Room with the following clinical history: left facial crust lesions, low visual acuity, ocular pain, low corneal sensitivity and complete ophthalmoplegia of the left eye. The orbital apex syndrome is a rare disorder which is characterized by ptosis, proptosis, internal and external ophthalmoplegia (involvement of the second, third, fourth and sixth cranial nerves, damage to the first division of the trigeminal (ophthalmic nerve, and varied degrees of visual acuity loss. The treatment of herpes zoster ophthalmicus is based on the use of systemic antiviral drugs and the prognosis will depend on ocular damage.

Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos Syndrome

Science.gov (United States)

Kim, Jeong Gyun; Cho, Won-Sang; Kim, Jeong Eun

2014-01-01

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. PMID:24653803

Fundus Findings in Wernicke Encephalopathy

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Tal Serlin

2017-07-01

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.

Bilateral multiple extraocular muscle metastasis from breast carcinoma

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Ramesh Murthy

2011-01-01

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.

Anti-musk positive myasthenia gravis and three semiological cardinal signs

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André P.C. Matta

2017-01-01

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.

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

International Nuclear Information System (INIS)

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

1987-01-01

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. (author)

Saccadic Alterations in Severe Developmental Dyslexia

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Stefano Pensiero

2013-01-01

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.

Anti-Ma2-associated encephalitis with normal FDG-PET: a case of pseudo-Whipple's disease.

Science.gov (United States)

Castle, James; Sakonju, Ai; Dalmau, Josep; Newman-Toker, David E

2006-10-01

A 39-year-old man presented with a history of several months of progressive personality changes, social withdrawal, bradykinesia, mutism, dysphagia, worsening gait, and difficulty with daily living activities. Examination revealed an atypical parkinsonian appearance with incomplete supranuclear ophthalmoplegia and an unusual oculomotor disorder characterized by both low-amplitude, intermittent opsoclonus, and slow, nystagmoid intrusions. Routine laboratory testing, autoimmune and infectious serologies, brain MRI, lumbar puncture, electroencephalogram, whole-body CT scan, paraneoplastic serologies, small bowel biopsy, 18F-fluorodeoxyglucose positron emission tomography CT scan, brain biopsy, and testicular ultrasound. Anti-Ma2 paraneoplastic encephalitis in association with metastatic testicular cancer; initially misdiagnosed as CNS Whipple's disease. Corticosteroids, intravenous immunoglobulins, orchiectomy, muscle relaxants, mycophenolate mofetil, plasmapheresis, and bleomycin, etoposide and platinum chemotherapy.

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

Energy Technology Data Exchange (ETDEWEB)

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

1987-09-01

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.

Otitis complicated by Jacod's syndrome with unusal facial nerve involvement: Case report and review of literature.

Science.gov (United States)

Abdulkadir, Kocer; Buket, Sanlisoy; Dilek, Agircan; Munevver, Okay; Ayse, Aralasmak

2015-04-01

Otitis media is a well-known condition and its infra-temporal and intracranial complications are extremely rare because of the widespread usage of antibiotic treatment. We report a case of 63-year-old female with complaints of right-sided facial pain and diplopia. She had a history of acute otitis media before 4 months of admission to our neurology unit. Neurological examination showed that total ophthalmoplegia with ptosis, mydriasis, decreased vision and loss of pupil reflex on the right side. In addition, there was involvement of 5th and 7th cranial nerves. Neurological and radiological follow-up examinations demonstrated Jacod's Syndrome with unusual facial nerve damage and infection in aetiology. Sinusitis is the most common aetiology, but there are a few cases reported Jacod's Syndrome originating from otitis media.

Magnetic resonance imaging in a case of Wernicke's encephalopathy

International Nuclear Information System (INIS)

Pagnan, L.; Pozzi-Mucelli, R.S.; Berlot, G.

1998-01-01

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.)

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

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Byung Ju Kang

2015-05-01

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.

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

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José Luis Ruiz-Sandoval

2009-12-01

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.

Increased Intracranial Pressure in a Boy with Gorham-Stout Disease

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Manisha K. Patel

2016-04-01

Full Text Available Gorham-Stout disease (GSD, also known as vanishing bone disease, is a rare disorder, which most commonly presents in children and young adults and is characterized by an excessive proliferation of lymphangiomatous tissue within the bones. This lymphangiomatous proliferation often affects the cranium and, due to the proximate location to the dura surrounding cerebrospinal fluid (CSF spaces, can result in CSF leaks manifesting as intracranial hypotension with clinical symptoms to include orthostatic headache, nausea, and vertigo. We present the case of a boy with GSD and a known history of migraine headaches who presented with persistent headaches due to increased intracranial pressure. Although migraine had initially been suspected, he was eventually diagnosed with intracranial hypertension after developing ophthalmoplegia and papilledema. We describe the first known instance of successful medical treatment of increased intracranial pressure in a patient with GSD.

Kearns-Sayre syndrome

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Kavita R Bhatnagar

2014-01-01

Full Text Available Kearns-Sayre syndrome (KSS is a rare neuromuscular disorder. We report a case of a 14-year-old boy diagnosed and treated as myasthenia gravis for (4 years who was eventually diagnosed with KSS. He reported to us 3 years after initial presentation of mild drooping of eyelids with increased severity of ptosis, bilateral external ophthalmoplegia, and atypical retinitis pigmentosa. On multispecialty consultation, he was found to have right bundle branch block, wasting and weakness of limb muscles, and hearing loss. Sartorius muscle biopsy revealed ragged red fibres on trichrome stain. All these findings confirmed the diagnosis of Kearns-Sayre Syndrome (KSS. The take home message is to have a high index of suspicion for KSS when encountering cases of musculoskeletal disorders in subjects below 20 years of age in view of high morbidity and mortality associated with this syndrome.

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.

2009-01-01

controls were subjected to an oral glucose tolerance test. Twenty-six adult 3243A>G carriers with unknown myopathy status and 17 healthy controls had a maximal cycle test and a muscle biopsy performed. The mutation loads were quantified in blood and muscle biopsies and correlated to the clinical......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...... combinations. Consequently, it is difficult to predict the "phenotypic risk profile" of 3243A>G mutation-positive subjects. The 3243A>G mutation coexists in cells with wild-type mtDNA, a phenomenon called heteroplasmy. The marked variability in mutation loads in different tissues is the main explanation...

Unilateral Vision Loss after a Dental Visit

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Khattab, Mohammed H.; Wiegand, Annette; Storch, Marcus; Hoerauf, Hans; Feltgen, Nicolas

2018-01-01

Intraoral local anesthetics are widely used for performing painless dental treatments; however, in some cases, they may cause ocular complications such as meiosis, diplopia, nystagmus, ophthalmoplegia, ptosis, and amaurosis. Mostly, the symptoms disappear after several hours; rarely, they have a prolonged character. We describe the case of a 38-year-old young man who had reduced vision in the left eye 5 days after having received intraoral local anesthesia. A diagnosis of cilioretinal artery occlusion with optic disc swelling was made. Ten weeks later, the patient's visual acuity had increased to 20/20, and the swelling of the optic disc had subsided. Although various possible mechanisms for ocular complications after intraoral local anesthetic administration were suggested in the literature, the exact etiology remains unclear. In this case, inadvertent intravascular injection is believed to be the cause. PMID:29681838

Ethical issues in states of impaired communication with intact consciousness and language.

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McCluskey, Leo

2013-01-01

Acute and chronic peripheral and/or central disorders of the voluntary motor system can produce profound paresis or paralysis, at times with ophthalmoplegia, while preserving consciousness and language function. Although at times appearing to be unconscious, these patients are awake and alert but unable to communicate, manipulate their environment, or participate in medical decision-making. Clinicians caring for these patients are ethically tasked with recognizing this clinical reality, enacting measures to facilitate communication, and abiding by ethical and legal principles that support autonomous patient-centered decision-making. This chapter reviews the various disorders that may cause this state while using three exemplary disorders - locked-in syndrome, caused by an anterior pontine lesion; high cervical spinal cord lesion; and amyotrophic lateral sclerosis - to discuss the management of these patients. © 2013 Elsevier B.V. All rights reserved.

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

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Ioannis E. Dagklis

2016-01-01

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.

Primary oculomotor nerve palsy due to mild head injury. Report of two cases

International Nuclear Information System (INIS)

Katsuno, Makoto; Kobayashi, Shiro; Yokota, Hiroyuki; Teramoto, Akira

2008-01-01

Two patients with primary oculomotor nerve palsy due to direct mild head injury are reported. They presented with internal ophthalmoplegia, dilated nonreactive pupils, and very mild disturbance in consciousness. Except for the persistent oculomotor nerve palsy, both the patients recovered fully within one week. Neither demonstrated a history that was suggestive of a cause for their oculomotor nerve palsy. Initial CT scans demonstrated localized subarachnoid hemorrhage around the brain stem. One of the patients had sustained a fracture of the anterior clinoid process. As the underlying pathophysiologic mechanism underlying the oculomotor nerve palsy we suspected mild injury to the pupillomotor fibers at the anterior petroclinoidal ligament and that of the pupillary fibers at the posterior petroclinoidal ligament. We speculate that these perforating fibers at the anterior petroclinoidal ligament acted as a fulcrum due to downward displacement of the brainstem at the time of impact. (author)

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

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Hsin-Ming Liu

2012-08-01

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.

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

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Antonicka, Hana; Østergaard, Elsebet; Sasarman, Florin

2010-01-01

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...

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

2006-01-01

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.

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

International Nuclear Information System (INIS)

Hosoya, T.; Adachi, M.; Sugai, Y.; Yamaguchi, K.; Yamaguchi, K.; Kato, T.

2001-01-01

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.)

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

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Tzoufi, Meropi; Makis, Alexandros; Chaliasos, Nikolaos; Nakou, Iliada; Siomou, Ekaterini; Tsatsoulis, Agathoklis; Zikou, Anastasia; Argyropoulou, Maria; Bonnefont, Jean Paul; Siamopoulou, Antigone

2013-04-01

Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.

[Steinert myotonic dystrophy and blepharoptosis surgery: 9 case reports].

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Karim, A; Schapiro, D; Morax, S

2003-01-01

Steinert myopathic dystrophy is a generalized, hereditary disease with bone, muscular, heart and ocular involvement. This is a retrospective study of nine patients with significant blepharoptosis due to Steinert disease, who were treated at the Adolphe de Rothschild Ophthalmology Foundation over a period of 5 years. Ptosis was symmetric and major in all cases with poor levator excursion. Severity criteria were an absence of the Bell phenomenon and diminished orbicularis tone. A frontalis suspension was performed in eight cases with intentional undercorrection. The outcome was favorable in all cases, 2 with a slight overcorrection underwent a second operation conclusion: Surgical treatment of ptosis in Steinert disease is difficult because of a risk of lagophthalmic, keratopathy due to the severity of the disease, an absence of the Bell phenomenon and ophthalmoplegia. This surgery must be undertaken with caution, most often using a frontalis suspension. Undercorrection must be systematic, with the single goal of freeing the pupil in the primary position.

Tolosa-Hunt syndrome: MRI appearances

International Nuclear Information System (INIS)

Jain, R.; Sawhney, S.; Koul, R. L.; Chand, P.

2008-01-01

Full text: A review of MRI findings in seven patients with Tolosa-Hunt syndrome was carried out. Seven patients presented with unilateral painful ophthalmoplegia. Magnetic resonance imaging studies were carried out to evaluate the cavernous sinuses and orbits. Coronal fast spin-echo T 2 -weighted images and fat-saturated T 1 -weighted coronal and transverse images with and without contrast enhancement were obtained for the cavernous sinuses and orbits. All patients showed focal-enhancing masses expanding the ipsilateral cavernous sinus. In one patient the mass was extending to the orbital apex and intraorbital. All patients recovered on corticosteroid therapy and resolution of the masses was documented on follow-up MRI studies in five patients. One patient had a relapse of symptoms after discontinuing therapy. Magnetic resonance imaging studies of the cavernous sinus and orbital apex show high sensitivity for the detection and follow up of inflammatory mass lesions in Tolosa-Hunt syndrome. Magnetic resonance imaging should be the initial screening study in these patients.

Diagnostic significance of mamillary body atrophy on MR images in chronic Wernicke disease

International Nuclear Information System (INIS)

Charness, M.E.; De La Paz, R.L.; Diamond, I.; Norman, D.

1986-01-01

In chronic Wernicke disease (CWD) characteristic mammillary body degeneration is seen at autopsy, but the entity is infrequently diagnosed clinically before death. Only 5%-20% of patients exhibit the classic triad of encephalopathy, ataxia, and ophthalmoplegia. Patients with CWD and control subjects were studied with proton MR imaging (GE Signa, 1.5T) using 3-mm-thick T1-weighted spin-echo (25/600) images in coronal and sagittal planes through the mammillary bodies. Elliptical volumes were calculated. In nine patients, aged 47-79 years, with classic CWD, a significant reduction in mammillary body volumes was seen, compared to findings in 15 age-matched healthy subjects and five patients with Alzheimer disease. Mean volumes (mm/sup 3/ [SD]) were 21.3 (5.8) for patients with CWD, 34.3 (3.0) for patients with Alzheimer disease, and 55.2 (4.0) for healthy subjects. MR imaging and autopsy measurements of normal subjects were similar (autopsy volume: 58.2 [5.3])

Hepatocellular carcinoma presenting as an isolated sphenoid sinus lesion: a case report.

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Tandon, Shantanu; Nair, Arun; Sawkar, Anisha; Balasubramanya, A M; Hazarika, Diganta

2012-01-01

We report a rare case of a metastatic sphenoid sinus lesion originating from an undiagnosed hepatocellular carcinoma (HCC) in a 53-year-old man who presented with gradually progressive external ophthalmoplegia. Imaging showed a right sphenoid sinus lesion infiltrating the parasellar region. Although a primary sphenoid biopsy was inconclusive, positive hepatitis B surface antigen and CT-guided fine-needle aspiration cytology suggested an HCC. A repeat endoscopic biopsy from the sphenoid with immunohistochemistry confirmed the lesion to be metastatic HCC. Metastasis to the paranasal sinuses is extremely rare, and metastasis from a liver primary even more rare. Because of clinical and radiologic similarity between the primary and metastatic lesions, metastasis to the sphenoid sinus is often undiagnosed. Patients with features suggestive of sphenoid sinus malignancy should also be evaluated for the possibility of a metastatic tumor. In this article, we emphasize the rarity of the tumor, the unusual presenting symptoms, and problems with early diagnosis.

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

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Marcus Vinicius Cristino de Albuquerque

2015-01-01

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.

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)

2001-04-01

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.)

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.

2017-01-01

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...

Wernicke Encephalopathy in Adolescents After Bariatric Surgery: Case Report and Review.

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Armstrong-Javors, Amy; Pratt, Janey; Kharasch, Sigmund

2016-12-01

Roughly 1% of all weight loss surgery is performed in adolescents. There is strong evidence demonstrating significant postsurgical weight loss, improvement in quality of life, and reduction in comorbidities such as hypertension and diabetes. Reports of postoperative complications in adolescents are few because of the small sample size in most series. Despite vitamin supplementation, nutritional deficiencies requiring hospitalization occur occasionally after Roux-en-Y gastric bypass. Wernicke encephalopathy, a triad of ophthalmoplegia, ataxia, and altered mental status, is a serious consequence of thiamine (vitamin B 1 ) deficiency. Few cases of Wernicke encephalopathy after weight loss surgery have been reported in the literature and even fewer in the pediatric population. Here we describe a teenage girl who develops vomiting after Roux-en-Y gastric bypass and presented with nystagmus, irritability, and ataxia. The clinical presentation, diagnosis, and treatment of Wernicke encephalopathy in adolescents after bariatric surgery are discussed. Copyright © 2016 by the American Academy of Pediatrics.

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

2017-01-01

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.

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

2017-08-01

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.

CT and MR imaging of primary tumors of the masticator space

International Nuclear Information System (INIS)

Aspestrand, F.; Boysen, M.

1992-01-01

A retrospective study of CT and MR examinations in 14 patients with benign and malignant tumors originating in the masticator space is presented. At presentation, 12 patients revealed tumor extension to adjacent regions and spaces. Perineutral tumor spread along trigeminal nerve branches to the cavernous sinus and orbits was combined with facial pain, and/or numbness, ophthalmoplegia, and exophthalmus. Detailed analysis of tumor growth and spread, enhancement and signal features at CT and MR imaging indicated that tumor histology was, with a few exceptions, nonspecific. More extensive growth and bone destruction was noted only among malignant tumors. MR imaging was found superior to CT in delineating tumor extension due to better soft tissue contrast resolution and multiplanar imaging. Posttreatment examinations were available in 11 patients and showed long-standing regional edema of the adjacent temporal lobe and masticator muscles in 4 out of 5 patients without clinical evidence of tumor. In 6 patients, CT and MR features were found almost unchanged with only small size differences after various forms of treatment. (orig.)

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

International Nuclear Information System (INIS)

Yoda, Satoru; Kitahara, Fuminori; Akabane, Taro; Terauchi, Akiko.

1984-01-01

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. (author)

Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa.

Science.gov (United States)

Demaria, Francesco; De Crescenzo, Franco; Caramadre, Anna Maria; D'Amico, Adele; Diamanti, Antonella; Fattori, Fabiana; Casini, Maria Pia; Vicari, Stefano

2016-12-01

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder mainly caused by mutations in the nuclear gene TYMP, encoding thymidine phosphorylase. It generally appears in childhood and is clinically characterized by severe gastrointestinal dysmotility, cachexia, ptosis, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy on brain magnetic resonance imaging. The disease is clinically heterogeneous with the main symptoms being gastrointestinal, with an important weight loss. Symptoms might worsen rapidly, and a timely diagnosis is vital. However, patients report retrospectively their first symptoms before the age of 12 years, but the delay in diagnosis varies from 5 to 10 years. In the present study, we report a case of an adolescent with MNGIE, which was initially, and erroneously, diagnosed as anorexia nervosa. To make a timely and accurate differential diagnosis, we will discuss the clinical differences and similarities between MNGIE and anorexia nervosa and the importance of a multidisciplinary evaluation. Copyright © 2016 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

Multiple adenomas of the thyroid occurring 20 years after successful radiotherapy for neuroblastoma in the cervical lymphnodes

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McKenzie, C G; Hope-Stone, H F [London Hospital (UK)

1975-12-01

The case history is described. In 1952 a three year old female child received a total dose to the neck area of 3,500 R 240 kV X-rays during a course of radiotherapy for neuroblastoma in the cervical lymph-nodes. At the age of 16 she devloped a transient ophthalmoplegia for which no cause could be found. In 1972, when she was 23 years old, a 3cm nodule was detected in the right lobe of the thyroid. Total thyroidectomy was performed, and the thyroid was found to consist almost entiely of multiple follicular adenomas of varying morphology. There was a marked focal lymphocytic infiltrate in the small amount of intervening parenchyma which also showed multiple snall colloid nodules but no fibrosis or nuclear abnormalities attributable to radiation. Radiotherapy of the neck in children is known to increase the risk of subsequent development of thyroid neoplasia, and thyroid stimulating hormone (TSH) may be a factor in this increased risk. Possible prophylactic administration of thyroid hormone to suppress the secretion of TSH in children following radiotherapy of the neck area is discussed.

Work ability evaluation in neurosarcoidosis: A case report

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Milovanović Aleksandar P.S.

2006-01-01

Full Text Available Sarcoidosis is a multisystemic granulomatous disease of unknown etiology which affects most frequently the hilar lymph nodes and lungs. Symptomatic involvement of the central nervous system may develop in patients diagnosed with sarcoidosis or it may be the initial manifestation of the disease. This is a case report of 48-year old female patient admitted to our clinic for evaluation of working ability. The patient had a total of 24 years of service and occupational exposure and she has been employed as supplies procurement officer. On admission, she complained of the following discomforts: eye-lid pain, intellectual fatigue, psychic uneasiness, forgetfulness, dyspnea and productive cough. Neurological findings indicated the presence of the right eye ophthalmoplegia, psychoorganic syndrome and neurosarcoidosis. Ophthalmological examination evidenced bilateral ptosis and presence of anisocoria. Magnetic resonance imaging revealed discrete focal lesions of the pons (paracentral left and parietal corona radiata of the left hemisphere. Based on performed examinations and diagnostics procedures, final evaluation of patient’s working ability concluded that the patient was not capable of psychic strains and jobs associated with material accountability.

Wernicke encephalopathy without delirium that appeared as agitation in a patient with lung cancer.

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Onishi, Hideki; Ishida, Mayumi; Takahashi, Takao; Taji, Yoshitada; Ikebuchi, Kenji; Furuya, Daisuke; Uchida, Nozomu; Akechi, Tatsuo

2018-05-11

Wernicke encephalopathy (WE) is a neuropsychiatric disorder caused by thiamine deficiency, and is sometimes overlooked because of the diversity of clinical symptoms. From a series of WE patients with cancer, we report a lung cancer patient who developed WE, the main symptom of which was agitation.ResultA 50-year-old woman with lung cancer was referred to our psycho-oncology clinic because of agitation lasting for three days. No laboratory findings or drugs explaining her agitation were identified. Although the patient did not develop delirium, ophthalmoplegia, or ataxia, WE was suspected because she experienced a loss of appetite loss lasting 5 weeks. This diagnosis was supported by abnormal serum thiamine and disappearance of agitation one hour after intravenous thiamine administration.Significance of resultsThis report emphasizes the clinical diversity of WE and indicates the limits of the ability to diagnose WE from typical clinical symptoms. The presence of a loss of appetite for more than two weeks may be the key to the accurate diagnosis of WE.

A case of herpes zoster ophthalmicus preceded one week by diplopia and ophthalmalgia.

Science.gov (United States)

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

2017-04-28

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.

Successful Treatment of Rubral Tremor by High-Dose Trihexyphenidyl: A Case Report

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Li-Min Liou

2006-03-01

Full Text Available A 24-year-old male suffered from acute-onset right-sided hemiparesis, dysarthria, and ophthalmoplegia in February 2001. Brain magnetic resonance imaging revealed a cavernous angioma with hemorrhage over the left thalamus. Moreover, some rhythmic, coarse, low-frequency (2-3 Hz oscillation over the right wrist and elbow was noted 1 month later. Action tremor was more predominant than resting tremor. Rubral tremor was diagnosed on the basis of the clinical presentation and tremography analysis. Rubral tremor is not unusual, and pharmacotherapy is nearly always ineffective in clinical practice. Deep brain stimulation, thalamotomy, and pallidotomy are all considered effective according to recent research. However, they are either very expensive or invasive, and involve surgical risks. In our patient, we tried valproate, clonazepam, and verapamil one after another, but all in vain. Finally, titration of trihexyphenidyl provided significant benefit. The tremor was successfully controlled by a single high daily dose of trihexyphenidyl (38 mg without severe or uncomfortable side effects. Here, we report a case of successful monotherapy of rubral tremor with high-dose trihexyphenidyl.

Ophthalmople gic cranial neuropathy: clinical case

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N. S. Dozorova

2018-01-01

Full Text Available Ophthalmoplegic cranial neuropathy (OCN is a disease with unknown etiology, which manifests itself by episodes of intense headache, accompanied by completely or partially reversible dysfunction of the oculomotor nerve: ptosis, mydriasis and ophthalmoplegia. It is assumed that the pathology is demyelinating in nature, therefore in the International classification of headaches OCN excluded from rubric migraine and related to the painful cranial neuropathies. The question of the prevention and treatment of this disease is still controversial, the issue of the appointment of corticosteroids, calcium channel blockers and β-blockers, methods of surgical correction of strabismus and botulin therapy.The article describes OCN in an 11-year-old boy. In the clinical picture headache attacks were observed. These attacks were with signs of selective lesions of the oculomotor nerve on one side. These functional changes are recurrent, and fully regress between attacks. Laboratory and instrumental examinations revealed no pathology that could cause this symptom, including myasthenia. The described case demonstrates the classical picture of OCN with a favorable course and the partial damage of the oculomotor nerve on one side.

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

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

2010-08-15

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.

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

International Nuclear Information System (INIS)

Lv Xianli; Jiang Chuhan; Li Youxiang; Yang Xinjian; Wu Zhongxue

2010-01-01

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.

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)

1999-12-01

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.

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)

2003-01-01

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

Osteopathia striata with cranial sclerosis

International Nuclear Information System (INIS)

Gay, B.B.; Elsas, L.J.; Wyly, J.B.; Pasquali, M.

1994-01-01

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.)

[Two patients with mitochondrial respiratory chain disease].

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Bangma, H R; Smit, G P A; Kuks, J B M; Grevink, R G; Wolffenbuttel, B H R

2008-10-18

A 23-year-old woman and a 13-year-old boy were diagnosed with mitochondrial respiratory chain disease. The woman had muscle pain, fatigue and bilateral ophthalmoplegia--symptoms consistent with Kearns-Sayre syndrome. The boy had aspecific symptoms; eventually, reduced activity of complex 1 was found to be the cause of the mitochondrial respiratory chain disease in the boy and his mother, who had suffered from unexplained fatigue and muscle pain for 15 years. Mitochondrial diseases often involve several organ systems. Diagnosis can be difficult, because laboratory tests such as serum and urinary lactate and creatine kinase have low sensitivity and specificity. Biochemical assessment of muscle biopsy can reveal reduced oxidation ATP synthesis and sometimes specific abnormalities in individual protein complexes. DNA analysis may be helpful in demonstrating mitochondrial or nuclear mutations or deletions. The goal of treatment is to increase mitochondrial ATP production, improve clinical symptoms and enhance stamina. Replacement of the following substances (also referred to as cofactors) may be attempted: co-enzyme Q10, antioxidants (lipoic acid, vitamins C and E), riboflavin, thiamine, creatine and carnitine. Evidence regarding the optimal treatment approach is lacking; one usually has to rely on observing effects in the individual patient.

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)

1999-09-01

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.)

The expanding phenotype of mitochondrial myopathy.

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DiMauro, Salvatore; Gurgel-Giannetti, Juliana

2005-10-01

Our understanding of mitochondrial diseases (defined restrictively as defects in the mitochondrial respiratory chain) continues to progress apace. In this review we provide an update of information regarding disorders that predominantly or exclusively affect skeletal muscle. Most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency, and mutations in genes that control mitochondrial DNA (mtDNA) abundance and structure such as POLG and TK2. Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with altered lipid composition of the inner mitochondrial membrane, but a putative secondary impairment of the respiratory chain remains to be documented. Concerning the 'other genome', the role played by mutations in protein encoding genes of mtDNA in causing isolated myopathies has been confirmed. It has also been confirmed that mutations in tRNA genes of mtDNA can cause predominantly myopathic syndromes and - contrary to conventional wisdom - these mutations can be homoplasmic. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle, causing exercise intolerance, myalgia, cramps, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia.

Mitochondrial myopathies.

Science.gov (United States)

DiMauro, Salvatore

2006-11-01

Our understanding of mitochondrial diseases (defined restrictively as defects of the mitochondrial respiratory chain) is expanding rapidly. In this review, I will give the latest information on disorders affecting predominantly or exclusively skeletal muscle. The most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency and mutations in genes controlling mitochondrial DNA abundance and structure, such as POLG, TK2, and MPV17. Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with decreased amount and altered structure of cardiolipin, the main phospholipid of the inner mitochondrial membrane, but a secondary impairment of respiratory chain function is plausible. The role of mutations in protein-coding genes of mitochondrial DNA in causing isolated myopathies has been confirmed. Mutations in tRNA genes of mitochondrial DNA can also cause predominantly myopathic syndromes and--contrary to conventional wisdom--these mutations can be homoplasmic. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia.

Volume measurement of the horizontal extraocular muscles using magnetic resonance imaging

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Nishida, Yasuhiro; Hayashi, Osamu; Nishida, Eri; Murata, Toyotaka; Aoki, Yoshiko; Inatomi, Akihiro; Kani, Kazutaka (Shiga Univ. of Medical Science, Otsu (Japan)); Mabuchi, Norihisa; Furutani, Yoshiaki

1993-07-01

The volume of the horizontal extraocular muscles of 11 normal adults and three patients with ophthalmoplegia was measured using magnetic resonance imaging (MRI). The MRI examinations were carried out with a Signa Advantage, 1.5 tesla superconductive magnetic system manufactured by General Electric. This method employs the spin echo technique with a 3.0 mm gapless slice, a 350 ms. repetition time, and a 17.0 ms. echo time. The MRI films were projected and magnified on Kent paper using an overhead projector. Then the shapes of the horizontal extraocular muscles were traced. The volume of the muscles was measured as the total weight of Kent papers which were cut out from muscle shapes in all the slices. The average volume of the normal medial and lateral rectus muscles was 690[+-]87 mm[sup 3] and 734[+-]77 mm[sup 3], respectively. Two cases of peripheral nerve palsy showed typical atrophy of the paretic muscles. A case of orbital myositis showed typical hypertrophy of the inflamed muscles. This measurement may prove useful in the analysis and evaluation of extraocular muscles, especially in ophthalmoplesia.(author).

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

International Nuclear Information System (INIS)

Seze, J. de; Lucas, C.; Vermersch, P.; Leys, D.; Leclerc, X.; Sahli, A.

1999-01-01

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.)

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

1968-06-01

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.

An application of dynamic CT for diagnosis of abnormal external ocular muscle movement

International Nuclear Information System (INIS)

Tomita, Kazumi; Ogura, Yuuko; Takeshita, Gen; Koga, Sukehiko; Katada, Kazuhiro; Anno, Hirofumi.

1993-01-01

To evaluate the movements of retrobulbar structures radiologically, we have developed a new technique called 'external ocular muscle movement CT' (EOM CT), in which dynamic CT scanning is performed while the patient performs controlled eye movements. This new technique was applied in one volunteer and 72 patients with external ophthalmoplegia due to orbital mass lesion, hyperthyroid ophthalmopathy, blowout fracture, and other retrobulbar lesions. EOM CT permits the assessment of extraocular muscle contraction in cases of blowout fracture, the evaluation of muscular contraction in hypertrophy of the extraocular muscles, and the diagnosis of adhesions between the extraocular muscles and intraorbital masses. Radiation dose to the lens from EOM CT was measured using a phantom and TLD, and was compared with that of conventional CT scanning with a 5 mm slice thickness. The dose to the lens from EOM CT was three times higher than that for conventional CT in axial scanning, but in the coronal section of the retrobulbar region, the dose to the lens from EOM CT decreases to one twelfth of that of conventional CT. EOM CT promises to be a powerful modality for functional evaluation of the extraocular muscles and other retrobulbar structures. (author)

Serial neurophysiological and neurophysiological examinations for delayed facial nerve palsy in a patient with Fisher syndrome.

Science.gov (United States)

Umekawa, Motoyuki; Hatano, Keiko; Matsumoto, Hideyuki; Shimizu, Takahiro; Hashida, Hideji

2017-05-27

The patient was a 47-year-old man who presented with diplopia and gait instability with a gradual onset over the course of three days. Neurological examinations showed ophthalmoplegia, diminished tendon reflexes, and truncal ataxia. Tests for anti-GQ1b antibodies and several other antibodies to ganglioside complex were positive. We made a diagnosis of Fisher syndrome. After administration of intravenous immunoglobulin, the patient's symptoms gradually improved. However, bilateral facial palsy appeared during the recovery phase. Brain MRI showed intensive contrast enhancement of bilateral facial nerves. During the onset phase of facial palsy, the amplitude of the compound muscle action potential (CMAP) in the facial nerves was preserved. During the peak phase, the facial CMAP amplitude was within the lower limit of normal values, or mildly decreased. During the recovery phase, the CMAP amplitude was normalized, and the R1 and R2 responses of the blink reflex were prolonged. The delayed facial nerve palsy improved spontaneously, and the enhancement on brain MRI disappeared. Serial neurophysiological and neuroradiological examinations suggested that the main lesions existed in the proximal part of the facial nerves and the mild lesions existed in the facial nerve terminals, probably due to reversible conduction failure.

Neurological manifestations of snake bite in Sri Lanka.

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Seneviratne U

2002-10-01

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.

Regional Cerebral Perfusion in Progressive Supranuclear Palsy

International Nuclear Information System (INIS)

Lee, Won Yong; Lee, Ki Hyeong; Yoon, Byung Woo; Lee, Sang Bok; Jeon, Beom S.; Lee, Kyung Han; Lee, Myung Chul

1996-01-01

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). 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

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.

Wernicke’s Encephalopathy: An Unusual Consequence of the Acquired Immune Deficiency Syndrome—Case Report and Literature Review

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Timothy R. Larsen

2013-01-01

Full Text Available Introduction. Wernicke’s encephalopathy is a well-described syndrome characterized by the classic triad of confusion, ataxia, and ophthalmoplegia. Wernicke’s encephalopathy results from thiamine (vitamin B1 deficiency. Common causes include alcoholism and gastric disorders. Wernicke’s has been described in patients with acquired immune deficiency syndrome (AIDS; however, given these patients’ immunosuppressed state, the diagnosis of Wernicke’s encephalopathy is not apparent. Case Presentation. A 31-year-old previously healthy male presented to the ER complaining of progressive dyspnea. Workup revealed HIV/AIDS and PCP pneumonia. He was treated and improved. On day 14 he became confused and developed nystagmus and ataxia. Considering his immunocompromised state, infectious and neoplastic etiologies topped the differential diagnosis. CT head was negative. Lumbar puncture was unremarkable. Brain MRI revealed increased T2 signal in the medial thalamus bilaterally. Intravenous thiamine was administered resulting in resolution of symptoms. Discussion. The classic triad of Wernicke’s encephalopathy occurs in 10% of cases. When immunosuppressed patients develop acute neurologic symptoms infectious or neoplastic etiologies must be excluded. However, given the relative safety of thiamine supplementation, there should be a low threshold for initiating therapy in order to reverse the symptoms and prevent progression to Korsakoff dementia, which is permanent.

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

2012-12-01

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.

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

International Nuclear Information System (INIS)

Kihara, Koichi; Nakajo, Masayuki; Shono, Hirohisa

1992-01-01

Myocardial imaging with β-methyl-p-( 123 I)-iodophenyl-pentadecanoic acid ( 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 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 123 I-BMIPP compared to 201 Tl in MELAS cases than in CPEO cases. The mean myocardial uptake of 123 I-BMIPP was higher than that of 201 Tl in CPEO cases. On the other hand, in MELAS and MERRF cases, the mean myocardial uptake of 123 I-BMIPP was lower than that of 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 123 I-BMIPP, these results suggest that 123 I-BMIPP may be useful to detect myocardial damages in patients with mitochondrial myopathy. (author)

Thyroid ophthalmopathy revisited

International Nuclear Information System (INIS)

Machado, Karina Freitas Soares; Garcia, Marcelo de Mattos

2009-01-01

Thyroid ophthalmopathy is an autoimmune orbital disorder closely associated with Graves' disease, although both conditions may also occur isolatedly. Thyroid ophthalmopathy may precede, coincide or follow the thyroid dysfunction onset and may rarely occur in euthyroid and hypothyroid patients. The extra ocular muscles are most frequently involved and become enlarged resulting in ophthalmoplegia and proptosis. Other relevant signs include palpebral retraction, conjunctival hyperemia and periorbitary edema. Visual loss may occur in association with compressive optic neuropathy at the orbital apex. Thyroid ophthalmopathy is characterized by inflammation, congestion, hypertrophy and fibrosis involving fat and the orbital muscles. The disease activity is divided into two phases: an acute or inflammatory phase and a second one corresponding to an inactive phase associated with fibrotic changes and fat infiltration of the retrobulbar tissues. The diagnosis is based on clinical findings and imaging methods are indicated in case of doubt or suspicion of optic neuropathy. Computed tomography and magnetic resonance imaging can confirm the diagnosis, allowing the evaluation of the critical region of the orbital apex. Magnetic resonance imaging is the method of choice considering the superior tissue contrast resolution, besides the capacity of evaluating the disease activity by means of long TR sequences and detecting inflammatory changes, with a relevant role in a timely therapeutic planning, which may improve the prognosis. (author)

Thyroid ophthalmopathy revisited; Oftalmopatia tireoidea revisitada

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Machado, Karina Freitas Soares; Garcia, Marcelo de Mattos [Colegio Brasileiro de Radiologia e Diagnostico por Imagem (CBR), Sao Paulo, SP (Brazil); Axial Centro de Imagem, Belo Horizonte, MG (Brazil)], e-mail: marcelomgarcia@superig.com.br, e-mail: ce@axialmg.com.br

2009-07-15

Thyroid ophthalmopathy is an autoimmune orbital disorder closely associated with Graves' disease, although both conditions may also occur isolatedly. Thyroid ophthalmopathy may precede, coincide or follow the thyroid dysfunction onset and may rarely occur in euthyroid and hypothyroid patients. The extra ocular muscles are most frequently involved and become enlarged resulting in ophthalmoplegia and proptosis. Other relevant signs include palpebral retraction, conjunctival hyperemia and periorbitary edema. Visual loss may occur in association with compressive optic neuropathy at the orbital apex. Thyroid ophthalmopathy is characterized by inflammation, congestion, hypertrophy and fibrosis involving fat and the orbital muscles. The disease activity is divided into two phases: an acute or inflammatory phase and a second one corresponding to an inactive phase associated with fibrotic changes and fat infiltration of the retrobulbar tissues. The diagnosis is based on clinical findings and imaging methods are indicated in case of doubt or suspicion of optic neuropathy. Computed tomography and magnetic resonance imaging can confirm the diagnosis, allowing the evaluation of the critical region of the orbital apex. Magnetic resonance imaging is the method of choice considering the superior tissue contrast resolution, besides the capacity of evaluating the disease activity by means of long TR sequences and detecting inflammatory changes, with a relevant role in a timely therapeutic planning, which may improve the prognosis. (author)

Multiple sclerosis presented as clinically isolated syndrome: the need for early diagnosis and treatment

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Sigliti-Henrietta Pelidou

2008-06-01

Full Text Available Sigliti-Henrietta Pelidou, Sotirios Giannopoulos, Sotiria Tzavidi, Georgios Lagos, Athanassios P KyritsisDepartment of Neurology, University of Ioannina School of Medicine, GreeceObjective: To aid in the timely diagnosis of patients who present with clinically isolated syndrome (CIS.Patients and methods: We studied 25 patients (18 women, 7 men, originally presented in our clinic with a CIS suggestive of multiple sclerosis (MS. All patients underwent the full investigation procedure including routine tests, serology, cerebrospinal fluid (CSF examinations, evoked potentials (EPs, and magnetic resonance imaging (MRI of brain and cervical spinal cord. Patients were imaged at baseline, and every three months thereafter up to a year.Results: The CIS was consisted of optic neuritis in 12 cases, incomplete transverse myelitis (ITM in 7 cases, Lhermitte sign in 2 cases, internuclear ophthalmoplegia (INO in 2 cases, mild brainstem syndrome in 1 case, and tonic-clonic seizures in 1 case. Using the baseline and three-month scans 18/25 (72% patients developed definite MS in one year of follow up while 7 (28% had no further findings during this observation period. Immunomodulatory treatments were applied to all definite MS patients.Conclusion: In light of new treatments available, MRIs at 3 month intervals are helpful to obtain the definite diagnosis of MS as early as possible.Keywords: multiple sclerosis, clinically isolated syndrome, optic neuritis, transverse myelitis

Eye Movement Abnormalities in Multiple Sclerosis: Pathogenesis, Modeling, and Treatment

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Alessandro Serra

2018-02-01

Full Text Available Multiple sclerosis (MS commonly causes eye movement abnormalities that may have a significant impact on patients’ disability. Inflammatory demyelinating lesions, especially occurring in the posterior fossa, result in a wide range of disorders, spanning from acquired pendular nystagmus (APN to internuclear ophthalmoplegia (INO, among the most common. As the control of eye movements is well understood in terms of anatomical substrate and underlying physiological network, studying ocular motor abnormalities in MS provides a unique opportunity to gain insights into mechanisms of disease. Quantitative measurement and modeling of eye movement disorders, such as INO, may lead to a better understanding of common symptoms encountered in MS, such as Uhthoff’s phenomenon and fatigue. In turn, the pathophysiology of a range of eye movement abnormalities, such as APN, has been clarified based on correlation of experimental model with lesion localization by neuroimaging in MS. Eye movement disorders have the potential of being utilized as structural and functional biomarkers of early cognitive deficit, and possibly help in assessing disease status and progression, and to serve as platform and functional outcome to test novel therapeutic agents for MS. Knowledge of neuropharmacology applied to eye movement dysfunction has guided testing and use of a number of pharmacological agents to treat some eye movement disorders found in MS, such as APN and other forms of central nystagmus.

[Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

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Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

2018-01-26

This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

Thirty Days without a Bite: Wernicke's Encephalopathy in a Patient with Paranoid Schizophrenia.

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

2014-09-25

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.

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)

1992-04-01

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)

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

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MR Amin

2008-01-01

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.

Persistent visual impairment in multiple sclerosis: prevalence, mechanisms and resulting disability.

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Jasse, Laurence; Vukusic, Sandra; Durand-Dubief, Françoise; Vartin, Cristina; Piras, Carolina; Bernard, Martine; Pélisson, Denis; Confavreux, Christian; Vighetto, Alain; Tilikete, Caroline

2013-10-01

The objective of this article is to evaluate in multiple sclerosis (MS) patients the prevalence of persistent complaints of visual disturbances and the mechanisms and resulting functional disability of persistent visual complaints (PVCs). Firstly, the prevalence of PVCs was calculated in 303 MS patients. MS-related data of patients with or without PVCs were compared. Secondly, 70 patients with PVCs performed an extensive neuro-ophthalmologic assessment and a vision-related quality of life questionnaire, the National Eye Institute Visual Functionary Questionnaire (NEI-VFQ-25). PVCs were reported in 105 MS patients (34.6%). Patients with PVCs had more frequently primary progressive MS (30.5% vs 13.6%) and more neuro-ophthalmologic relapses (1.97 vs 1.36) than patients without PVCs. In the mechanisms/disability study, an afferent visual and an ocular-motor pathways dysfunction were respectively diagnosed in 41 and 59 patients, mostly related to bilateral optic neuropathy and bilateral internuclear ophthalmoplegia. The NEI-VFQ 25 score was poor and significantly correlated with the number of impaired neuro-ophthalmologic tests. Our study emphasizes the high prevalence of PVC in MS patients. Regarding the nature of neuro-ophthalmologic deficit, our results suggest that persistent optic neuropathy, as part of the progressive evolution of the disease, is not rare. We also demonstrate that isolated ocular motor dysfunctions induce visual disability in daily life.

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.

Wernicke-Korsakoff syndrome in patients with cancer: a systematic review.

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

2016-04-01

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. Copyright © 2016 Elsevier Ltd. All rights reserved.

Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.

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Luigetti, M; Sauchelli, D; Primiano, G; Cuccagna, C; Bernardo, D; Lo Monaco, M; Servidei, S

2016-06-01

Peripheral neuropathy in mitochondrial diseases (MDs) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients. To investigate the involvement of the peripheral nervous system in MDs extensive electrophysiological studies were performed in 109 patients with morphological, biochemical and genetic diagnosis of MD [12 A3243G progressive external ophthalmoplegia (PEO)/mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), 16 myoclonic epilepsy with ragged-red fibres (MERRF), four mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), 67 PEO with single or multiple deletions of mitochondrial DNA, 10 others]. A neuropathy was found in 49 patients (45%). The incidence was very high in MNGIE (100%), MELAS (92%) and MERRF (69%), whilst 28% of PEO patients had evidence of peripheral involvement. The most frequent abnormality was a sensory axonal neuropathy found in 32/49 patients (65%). A sensory-motor axonal neuropathy was instead detected in 16% of the patients and sensory-motor axonal demyelinating neuropathy in 16%. Finally one Leigh patient had a motor axonal neuropathy. It is interesting to note that the great majority had preserved tendon reflexes and no sensory disturbances. In conclusion, peripheral involvement in MD is frequent even if often mild or asymptomatic. The correct identification and characterization of peripheral neuropathy through electrophysiological studies represents another tile in the challenge of MD diagnosis. © 2016 EAN.

Superior Orbital Fissure Syndrome and Ophthalmoplegia Caused by Varicella Zoster Virus with No Skin Eruption in a Patient Treated with Tumor Necrosis Alpha Inhibitor

DEFF Research Database (Denmark)

Jensen, Helene; Thomsen, Sidsel Thorup; Hansen, Stine Scott

2015-01-01

Varicella zoster virus lies dormant in the dorsal root ganglia after symptomatic chicken pox infection, usually in childhood. If the virus reactivates in the trigeminal ganglia, it can cause varicella zoster ophthalmicus, which can have severe ocular complications. We report a case of a 73-year...

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)

1996-03-15

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

Reversible coma and Duret hemorrhage after intracranial hypotension from remote lumbar spine surgery: case report.

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

2016-03-01

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.

MRI findings in Tolosa-Hunt syndrome before and after systemic corticosteroid therapy

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Cakirer, Sinan E-mail: scakirer@yahoo.com

2003-02-01

Tolosa-Hunt syndrome (THS) is characterized by painful ophthalmoplegia due to a granulomatous inflammation in the cavernous sinus. Corticosteroid therapy dramatically resolves both the clinical and radiological findings of THS. We present MRI findings of six patients with a clinical history of at least one episode of unilateral or bilateral orbital-periorbital pain, clinical findings of associated paresis of one or more of 3rd, 4th, 5th or 6th cranial nerves. All of the patients revealed an enlargement of the symptomatic cavernous sinus on magnetic resonance imaging (MRI) scans. Five patients revealed total resolution of the clinical findings within 1-8 weeks, following systemic corticosteroid treatment. One patient revealed only minor regression of clinical findings within 2 weeks after the initiation of the treatment, so the cavernous sinus lesion was reevaluated as meningioma on MRI, and the patient underwent surgical resection of the mass with resultant histopathological finding of cavernous sinus meningioma. A follow-up MRI scan was performed for five patients at the end of 8-weeks of steroid therapy. Three of these five patients showed total resolution of the cavernous sinus lesions whereas two of them revealed a partial regression of the cavernous sinus lesions. MRI findings before and after systemic corticosteroid therapy are important diagnostic criteria to put the definitive diagnosis of THS and to differentiate it from other cavernous sinus lesions that simulate THS both clinically and radiologically.

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

International Nuclear Information System (INIS)

Pitceathly, Robert D.S.; Morrow, Jasper M.; Hanna, Michael G.; Sinclair, Christopher D.J.; Yousry, Tarek A.; Thornton, John S.; Woodward, Cathy; Sweeney, Mary G.; Rahman, Shamima; Plant, Gordon T.; Ali, Nadeem; Bremner, Fion; Davagnanam, Indran

2016-01-01

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.)

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)

2016-01-15

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.)

Diffusion tensor analysis of corpus callosum in progressive supranuclear palsy

International Nuclear Information System (INIS)

Ito, Shoichi; Makino, Takahiro; Shirai, Wakako; Hattori, Takamichi

2008-01-01

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

Acute orbital apex syndrome and rhino-orbito-cerebral mucormycosis

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Anders UM

2015-04-01

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

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)

2008-11-15

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.

Kearns–Sayre syndrome: a case series of 35 adults and children

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Khambatta S

2014-07-01

Full Text Available Sherezade Khambatta, Douglas L Nguyen, Thomas J Beckman, Christopher M Wittich Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA Background: Kearns–Sayre syndrome (KSS is a rare mitochondrial cytopathy, first described at Mayo Clinic in 1958. Aims: We aimed to define patient and disease characteristics in a large group of adult and pediatric patients with KSS. Methods: We retrospectively searched the Mayo Clinic medical index patient database for the records of patients with KSS between 1976 and 2009. The 35 patients identified with KSS were analyzed in terms of demographic characteristics, presenting signs and symptoms, diagnostic features, clinical evolution, and associations between disease features and the development of disability. Results: The mean (standard [SD] age at KSS presentation was 17 (10 years, but the mean age at diagnosis was 26 (15 years. Ophthalmologic symptoms developed in all patients, and neurologic and cardiac involvement was common. Only four patients (11% in the series died, but all deaths were from sudden cardiac events. The development of physical disability was significantly associated with cognitive decline (P=0.004 but not with other clinical features, such as sex or sudden cardiac death. Conclusion: We report the largest case series to date of patients with KSS from a single institution. In addition to the conduction system abnormalities identified in previous series, our cohort included patients with syncope and sudden cardiac death. This underscores the need to consider formal electrophysiologic studies and prophylactic defibrillators in patients with KSS. Keywords: heart block, mitochondrial diseases, ophthalmoplegia, retinitis pigmentosa

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

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Podgorac Ana

2017-01-01

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.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

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Horvath, Rita; Hudson, Gavin; Ferrari, Gianfrancesco; Fütterer, Nancy; Ahola, Sofia; Lamantea, Eleonora; Prokisch, Holger; Lochmüller, Hanns; McFarland, Robert; Ramesh, V; Klopstock, Thomas; Freisinger, Peter; Salvi, Fabrizio; Mayr, Johannes A; Santer, Rene; Tesarova, Marketa; Zeman, Jiri; Udd, Bjarne; Taylor, Robert W; Turnbull, Douglass; Hanna, Michael; Fialho, Doreen; Suomalainen, Anu; Zeviani, Massimo; Chinnery, Patrick F

2006-07-01

Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase gamma (POLG1) have recently been described in patients with diverse clinical presentations, revealing a complex relationship between genotype and phenotype in patients and their families. POLG1 was sequenced in patients from different European diagnostic and research centres to define the phenotypic spectrum and advance understanding of the recurrence risks. Mutations were identified in 38 cases, with the majority being sporadic compound heterozygotes. Eighty-nine DNA sequence changes were identified, including 2 predicted to alter a splice site, 1 predicted to cause a premature stop codon and 13 predicted to cause novel amino acid substitutions. The majority of children had a mutation in the linker region, often 1399G-->A (A467T), and a mutation affecting the polymerase domain. Others had mutations throughout the gene, and 11 had 3 or more substitutions. The clinical presentation ranged from the neonatal period to late adult life, with an overlapping phenotypic spectrum from severe encephalopathy and liver failure to late-onset external ophthalmoplegia, ataxia, myopathy and isolated muscle pain or epilepsy. There was a strong gender bias in children, with evidence of an environmental interaction with sodium valproate. POLG1 mutations cause an overlapping clinical spectrum of disease with both dominant and recessive modes of inheritance. 1399G-->A (A467T) is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counselling.

Wernicke–Korsakoff syndrome

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Yu. P. Sivolap

2014-01-01

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.

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

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Joshua J. Todd

2018-03-01

Full Text Available The ryanodine receptor 1-related congenital myopathies (RYR1-RM comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1-RM, our group recently conducted the first clinical trial in this patient population (NCT02362425. This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI, and clinical findings. Genetic and histopathology reports were obtained from participant’s medical records. Alamut Visual Software was used to determine if participant’s variants had been previously reported and to assess predicted pathogenicity. Physical exams, pulmonary function tests, T1-weighted muscle MRI scans, and blood measures were completed during the abovementioned clinical trial. Six novel variants (two de novo, three dominant, and one recessive were identified in individuals with RYR1-RM. Consistent with established RYR1-RM histopathology, cores were observed in all biopsies, except Case 6 who exhibited fiber-type disproportion. Muscle atrophy and impaired mobility with Trendelenburg gait were the most common clinical symptoms and were identified in all cases. Muscle MRI revealed substantial inter-individual variation in fatty infiltration corroborating the heterogeneity of the disease. Two individuals with dominant RYR1 variants exhibited respiratory insufficiency: a clinical symptom more commonly associated with recessive RYR1-RM cases. This study demonstrates that a genetics-led approach is suitable for the diagnosis of suspected RYR1-RM which can be corroborated through histopathology, muscle MRI and clinical examination.

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.

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

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Saud Alsahli

2018-02-01

Full Text Available Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. Methods: We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Results: Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2 . A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI of the brain was normal in 60% of patients. Conclusions: We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

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Alsahli, Saud; Alrifai, Muhammad Talal; Al Tala, Saeed; Mutairi, Fuad Al; Alfadhel, Majid

2018-01-01

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2 ). A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI) of the brain was normal in 60% of patients. We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

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Sadikovic, Bekim; Wang, Jing; El-Hattab, Ayman W; Landsverk, Megan; Douglas, Ganka; Brundage, Ellen K; Craigen, William J; Schmitt, Eric S; Wong, Lee-Jun C

2010-12-20

Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (KSS), to severe Pearson syndrome. The aim of this study is to investigate the molecular signatures surrounding the deletion breakpoints and their association with the clinical phenotype and age at onset. MtDNA deletions in 67 patients were characterized using array comparative genomic hybridization (aCGH) followed by PCR-sequencing of the deletion junctions. Sequence homology including both perfect and imperfect short repeats flanking the deletion regions were analyzed and correlated with clinical features and patients' age group. In all age groups, there was a significant increase in sequence homology flanking the deletion compared to mtDNA background. The youngest patient group (deletion distribution in size and locations, with a significantly lower sequence homology flanking the deletion, and the highest percentage of deletion mutant heteroplasmy. The older age groups showed rather discrete pattern of deletions with 44% of all patients over 6 years old carrying the most common 5 kb mtDNA deletion, which was found mostly in muscle specimens (22/41). Only 15% (3/20) of the young patients (deletion, which is usually present in blood rather than muscle. This group of patients predominantly (16 out of 17) exhibit multisystem disorder and/or Pearson syndrome, while older patients had predominantly neuromuscular manifestations including KSS, PEO, and MM. In conclusion, sequence homology at the deletion flanking regions is a consistent feature of mtDNA deletions. Decreased levels of sequence homology and increased levels of deletion mutant heteroplasmy appear to correlate with earlier onset and more severe disease with multisystem involvement.

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

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Ashley, Neil; Adams, Susan; Slama, Abdelhamid; Zeviani, Massimo; Suomalainen, Anu; Andreu, Antonio L; Naviaux, Robert K; Poulton, Joanna

2007-06-15

Defects in mtDNA maintenance range from fatal multisystem childhood diseases, such as Alpers syndrome, to milder diseases in adults, including mtDNA depletion syndromes (MDS) and familial progressive external ophthalmoplegia (AdPEO). Most are associated with defects in genes involved in mitochondrial deoxynucleotide metabolism or utilization, such as mutations in thymidine kinase 2 (TK2) as well as the mtDNA replicative helicase, Twinkle and gamma polymerase (POLG). We have developed an in vitro system to measure incorporation of radiolabelled dNTPs into mitochondria of saponin permeabilized cells. We used this to compare the rates of mtDNA synthesis in cells from 12 patients with diseases of mtDNA maintenance. We observed reduced incorporation of exogenous alpha (32)P-dTTP in fibroblasts from a patient with Alpers syndrome associated with the A467T substitution in POLG, a patient with dGK mutations, and a patient with mtDNA depletion of unknown origin compared to controls. However, incorporation of alpha (32)P-dTTP relative to either cell doubling time or alpha (32)P-dCTP incorporation was increased in patients with thymidine kinase deficiency or PEO as the result of TWINKLE mutations compared with controls. The specific activity of newly synthesized mtDNA depends on the size of the endogenous pool diluting the exogenous labelled nucleotide. Our result is consistent with a deficiency in the intramitochondrial pool of dTTP relative to dCTP in cells from patients with TK2 deficiency and TWINKLE mutations. Such DNA precursor asymmetry could cause pausing of the replication complex and hence exacerbate the propensity for age-related mtDNA mutations. Because deviations from the normal concentrations of dNTPs are known to be mutagenic, we suggest that intramitochondrial nucleotide imbalance could underlie the multiple mtDNA mutations observed in these patients.

Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy.

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Yilmaz, Ali; Gdynia, Hans-Jürgen; Ponfick, Matthias; Rösch, Sabine; Lindner, Alfred; Ludolph, Albert C; Sechtem, Udo

2012-04-01

Mitochondrial myopathy comprises various clinical subforms of neuromuscular disorders that are characterised by impaired mitochondrial energy metabolism due to dysfunction of the mitochondrial respiratory chain. No comprehensive and targeted cardiovascular magnetic resonance (CMR) studies have been performed so far in patients with mitochondrial disorders. The present study aimed at characterising cardiac disease manifestations in patients with mitochondrial myopathy and elucidating the in vivo cardiac damage pattern of patients with different subforms of mitochondrial disease by CMR studies. In a prospective study, 37 patients with mitochondrial myopathy underwent comprehensive neurological and cardiac evaluations including physical examination, resting ECG and CMR. The CMR studies comprised cine-CMR, T2-weighted "edema" imaging and T1-weighted late-gadolinium-enhancement (LGE) imaging. Various patterns and degrees of skeletal myopathy were present in the participants of this study, whereas clinical symptoms such as chest pain symptoms (in eight (22%) patients) and various degrees of dyspnea (in 16 (43%) patients) were less frequent. Pathological ECG findings were documented in eight (22%) patients. T2-weighted "edema" imaging was positive in one (3%) patient with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) only. LGE imaging demonstrated the presence of non-ischemic LGE in 12 (32%) patients: 10 out of 24 (42%) patients with CPEO (chronic progressive external ophthalmoplegia) or KSS (Kearns-Sayre syndrome) and 2 of 3 (67%) patients with MELAS were LGE positive. All 10 LGE-positive patients with CPEO or KSS demonstrated a potentially typical pattern of diffuse intramural LGE in the left-ventricular (LV) inferolateral segments. Cardiac involvement is a frequent finding in patients with mitochondrial myopathy. A potentially characteristic pattern of diffuse intramural LGE in the LV inferolateral segments was identified in

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

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Ricardo de Oliveira-Souza

1995-12-01

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.

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann?Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report

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Cuisset, Jean-Marie; Sukno, S.; Trauffler, A.; Latour, P.; Dobbelaere, D.; Michaud, L.; Vall?e, L.

2016-01-01

Background Niemann?Pick disease type C is a rare inherited neurodegenerative disease involving impaired intracellular lipid trafficking and accumulation of glycolipids in various tissues, including the brain. Miglustat, a reversible inhibitor of glucosylceramide synthase, has been shown to be effective in the treatment of progressive neurological manifestations in pediatric and adult patients with Niemann?Pick disease type C, and has been used in that indication in Europe since 2010. Case pre...

Cavernous sinus syndrome in dogs and cats: case series (2002-2015

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Aslynn M. Jones

2018-05-01

Full Text Available The cavernous sinus (CS is a paired venous sinus that runs along either side of the pituitary gland on the floor of the calvarium. Cavernous sinus syndrome (CSS refers to deficits in more than one of the cranial nerves III, IV, V, and VI, as they are in close association in this region. The purpose of this study was to identify the presenting complaints, neurologic findings, diagnosis, and outcomes in dogs and cats with confirmed cavernous sinus syndrome (CSS. Medical records between 2002 and 2015 were reviewed. Inclusion criteria were neurologic signs consistent with CSS and advanced imaging and/or post-mortem examination. Thirteen dogs and 2 cats were included. Twelve dogs received advanced imaging. Post-mortem examination was performed on 2 cats and 3 dogs. Dogs were 6 -13 years (mean= 10.8 years of age and comprised of several different breeds. Both cats were male neutered domestic shorthair, ages 3 and 14 years. Presenting complaints included mydriasis (N=4, behavior changes (N=3, hyporexia (N=3, ptosis (N=2, ataxia (N=2, pain (N=2, weakness (N=2, lethargy (N=2, and one each of epiphora, ocular swelling, polydipsia, seizures, facial muscle atrophy, dysphagia, and head tilt. Neurologic signs included ophthalmoparesis/plegia (N=13, reduced/absent pupillary light response (N= 11, mydriasis (N= 10, reduced/absent corneal sensation (N= 7, ptosis (N= 6, reduced facial sensation (N= 2, and enophthalmos (N=1. Thirteen patients had a mass lesion within the cavernous sinus, 6 of which were confirmed neoplastic via histopathology. Median survival time for the 4 patients treated with radiation therapy was 1035 days (range 150-2280. Median survival for the 4 patients that received medical treatment was 360 days (range 7-1260 days, and for the 5 non-treated patients 14 days (range 0-90 days. In conclusion mydriasis and ophthalmoplegia are common signs of CSS. A mass lesion within the CS is the most common cause. Survival time may be improved with

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

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Luciano Farage

2005-03-01

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.

Chronic Granulomatous Tolosa-Hunt Syndrome (Case Report

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Dewa Purwa Samatra

2016-04-01

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.

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

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

2010-07-20

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

Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report

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Dantas Clarissa R

2010-07-01

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

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)

2013-12-15

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.)

Cranial Neuropathy in Multiple Sclerosis

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Mine Hayriye Sorgun

2011-09-01

Full Text Available OBJECTIVE: It has been reported that cranial neuropathy findings could be seen in the neurologic examination of multiple sclerosis (MS patients, although brain magnetic resonance imaging (MRI may not reveal any lesion responsible for the cranial nerve involvement. The aim of this study was to determine the frequency of brainstem and cranial nerve involvement, except for olfactory and optic nerves, during MS attacks, and to investigate the rate of an available explanation for the cranial neuropathy findings by lesion localization on brain MRI. METHODS: Ninety-five attacks of 86 MS patients were included in the study. The patients underwent a complete neurological examination, and cranial nerve palsies (CNP were determined during MS attacks. RESULTS: CNP were found as follows: 3rd CNP in 7 (7.4%, 4th CNP in 1 (1.1%, 5th CNP in 6 (6.3%, 6th CNP in 12 (12.6%, 7th CNP in 5 (5.3%, 8th CNP in 4 (4.2%, and 9th and 10th CNP in 2 (2.1% out of 95 attacks. Internuclear ophthalmoplegia (INO was detected in 5 (5.4%, nystagmus in 37 (38.9%, vertigo in 9 (6.3%, and diplopia in 14 (14.7% out of 95 attacks. Pons, mesencephalon and bulbus lesions were detected in 58.7%, 41.5% and 21.1% of the patients, respectively, on the brain MRI. Cranial nerve palsy findings could not be explained by the localization of the lesions on brainstem MRI in 5 attacks; 2 of them were 3rd CNP (1 with INO, 2 were 6th CNP and 1 was a combination of 6th, 7th and 8th CNP. CONCLUSION: The most frequently affected cranial nerve and brainstem region in MS patients is the 6th cranial nerve and pons, respectively. A few of the MS patients have normal brainstem MRI, although they have cranial neuropathy findings in the neurologic examination.

Clinical analysis of anti-Ma2-associated encephalitis.

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Dalmau, Josep; Graus, Francesc; Villarejo, Alberto; Posner, Jerome B; Blumenthal, Deborah; Thiessen, Brian; Saiz, Albert; Meneses, Patricio; Rosenfeld, Myrna R

2004-08-01

Increasing experience indicates that anti-Ma2-associated encephalitis differs from classical paraneoplastic limbic or brainstem encephalitis, and therefore may be unrecognized. To facilitate its diagnosis we report a comprehensive clinical analysis of 38 patients with anti-Ma2 encephalitis. Thirty-four (89%) patients presented with isolated or combined limbic, diencephalic or brainstem dysfunction, and four with other syndromes. Considering the clinical and MRI follow-up, 95% of the patients developed limbic, diencephalic or brainstem encephalopathy. Only 26% had classical limbic encephalitis. Excessive daytime sleepiness affected 32% of the patients, sometimes with narcolepsy-cataplexy and low CSF hypocretin. Additional hormonal or MRI abnormalities indicated diencephalic-hypothalamic involvement in 34% of the patients. Eye movement abnormalities were prominent in 92% of the patients with brainstem dysfunction, but those with additional limbic or diencephalic deficits were most affected; 60% of these patients had vertical gaze paresis that sometimes evolved to total external ophthalmoplegia. Three patients developed atypical parkinsonism, and two a severe hypokinetic syndrome with a tendency to eye closure and dramatic reduction of verbal output. Neurological symptoms preceded the tumour diagnosis in 62% of the patients. Brain MRI abnormalities were present in 74% of all patients and 89% of those with limbic or diencephalic dysfunction. Among the 34 patients with cancer, 53% had testicular germ-cell tumours. Two patients without evidence of cancer had testicular microcalcification and one cryptorchidism, risk factors for testicular germ-cell tumours. After neurological syndrome development, 17 of 33 patients received oncological treatment (nine also immunotherapy), 10 immunotherapy alone, and six no treatment. Overall, 33% of the patients had neurological improvement, three with complete recovery; 21% had long-term stabilization, and 46% deteriorated. Features

Demographic and clinical profile of Multiple Sclerosis in Kashmir: A short report.

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Zahoor, Insha; Asimi, Ravouf; Haq, Ehtishamul; Yousuf Wani, Irfan

2017-04-01

Multiple sclerosis (MS) is a chronic autoimmune and inflammatory disease of the central nervous system (CNS). There have been only few population/hospital based studies on MS in India, and at the same time there is no data on its profile in Kashmir. A total of 41 MS patients diagnosed on the basis of 2010 Revised Mc Donald criteria were enrolled in this study from Kashmir region of India. Clinical, demographic, radiological and biochemical parameters were analyzed for most of the patients. Male to female ratio was found to be 1:3.1 with mean age at the time of analysis 32.26±7.54 (range 18-48) years. The mean disease duration was found to be 3.2±3.6 years. The most common course was relapsing-remitting (RR) present in 87.80% of cases followed by secondary progressive (SP) in 9.76% and primary progressive (PP) in 2.44%. Numbness, weakness of limbs, prickling and tingling sensations, muscle stiffness, and visual disturbances were most common manifestations. Condition of bilateral internuclear ophthalmoplegia (INO) and vertigo was rarely observed. Oligoclonal bands (OCB) were present in cerebrospinal fluid (CSF) of majority of the patients. Symptomatic and steroidal treatment mode was given to majority of the patients (92.68%) and only 7.32% patients were given disease modifying drug. This is the first preliminary report on MS profile in Kashmir. The high prevalence of female patients and RR course of MS, low prevalence of progressive cases, predominance of OCB positive cases, insignificant family history in all cases, predominance of cases with low socio-economic status, and high rate of less educated and unemployed cases are the most important findings. By and large MS pattern in Kashmir was found to be relatively similar to West and rest of the Asia. Larger comprehensive studies are mandatory to completely understand MS pattern in Kashmir. There is utmost requirement to maintain a local MS registry in Kashmir so as to get an idea about the actual number of

Spinocerebellar ataxias Ataxias espinocerebelares

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Hélio A.G. Teive

2009-12-01

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

Clival chordomas: considerations after 16 years of endoscopic endonasal surgery.

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Zoli, Matteo; Milanese, Laura; Bonfatti, Rocco; Faustini-Fustini, Marco; Marucci, Gianluca; Tallini, Giovanni; Zenesini, Corrado; Sturiale, Carmelo; Frank, Giorgio; Pasquini, Ernesto; Mazzatenta, Diego

2018-02-01

OBJECTIVE In the past decade, the role of the endoscopic endonasal approach (EEA) has relevantly evolved for skull base tumors. In this study, the authors review their surgical experience with using an EEA in the treatment of clival chordomas, which are deep and infiltrative skull base lesions, and they highlight the advantages and limitations of this ventral approach. METHODS All consecutive cases of chordoma treated with an EEA between 1998 and 2015 at a single institution are included in this study. Preoperative assessment consisted of neuroimaging (MRI and CT with angiography sequences) and endocrinological, neurological, and ophthalmological evaluations, which were repeated 3 months after surgery and annually thereafter. Postoperative adjuvant therapies were considered. RESULTS Sixty-five patients (male/female ratio 1:0.9) were included in this study. The median age was 48 years (range 9-80 years). Gross-total resection (GTR) was achieved in 47 cases (58.7%). On univariate analysis, primary procedures (p = 0.001), location in the superior or middle third of the clivus (p = 0.043), extradural location (p = 0.035), and histology of conventional chordomas (p = 0.013) were associated with a higher rate of GTR. The complication rate was 15.1%, and there were no perioperative deaths. Most complications did not result in permanent sequelae and included 2 CSF leaks (2.5%), 5 transient cranial nerve VI palsies (6.2%), and 2 internal carotid artery injuries (2.5%), which were treated with coil occlusion of the internal carotid artery without neurological deficits. Three patients (3.8%) presented with complications resulting in permanent neurological deficits due to a postoperative hematoma (1.2%) causing a hemiparesis, and 2 permanent ophthalmoplegias (2.5%). Seventeen patients (26.2%) have died of tumor progression over the course of follow-up (median 52 months, range 7-159 months). Based on Kaplan-Meier analysis, the survival rate was 77% at 5 years and 57% at 10

Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy.

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Florian, Anca; Ludwig, Anna; Stubbe-Dräger, Bianca; Boentert, Matthias; Young, Peter; Waltenberger, Johannes; Rösch, Sabine; Sechtem, Udo; Yilmaz, Ali

2015-05-22

Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory chain with consecutively impaired cellular energy metabolism. Small sized studies using mainly electrocardiography (ECG) and echocardiography have revealed cardiac abnormalities ranging from conduction abnormalities and arrhythmias to hypertrophic or dilated cardiomyopathy in these patients. Recently, characteristic patterns of cardiac involvement were documented by cardiovascular magnetic resonance (CMR) in patients with chronic progressive external ophthalmoplegia (CPEO)/Kearns-Sayre syndrome (KSS) and with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS). The present study aimed to characterize the prevalence and pattern of cardiac abnormalities and to test the additional diagnostic value of CMR in this patient population. The hypothesis that different neuromuscular MM syndromes present with different cardiac disease phenotypes was evaluated. Sixty-four MM patients (50 ± 15 years, 44% male) and 25 matched controls (52 ± 14 years, 36% male) prospectively underwent cardiac evaluations including CMR (comprising cine- and late-gadolinium-enhancement (LGE) imaging). Based on the neuromuscular phenotype and genotype, the patients were grouped: (a) CPEO/KSS (N = 33); (b) MELAS/-like (N = 11); c) myoclonic epilepsy with ragged-red fibers (MERRF) (N = 3) and d) other non-specific MM forms (N = 17). Among the 64 MM patients, 34 (53%) had at least one abnormal CMR finding: 18 (28%) demonstrated an impaired left ventricular ejection-fraction (LV-EF patients showed significantly higher maximal wall thickness (10 ± 3 vs. 8 ± 2 mm, p = 0.005) and concentricity (LV mass to end-diastolic volume: 0.84 ± 0.27 vs. 0.67 ± 0.11, p patients showed the highest frequency of cardiac disease (in 10/11 (91%)), a mostly concentric LV hypertrophy (6/9; 67%) with or

Neurological Complications Associated With Anti-Programmed Death 1 (PD-1) Antibodies.

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Kao, Justin C; Liao, Bing; Markovic, Svetomir N; Klein, Christopher J; Naddaf, Elie; Staff, Nathan P; Liewluck, Teerin; Hammack, Julie E; Sandroni, Paola; Finnes, Heidi; Mauermann, Michelle L

2017-10-01

Neurological complications are an increasingly recognized consequence of the use of anti-programmed death 1 (PD-1) antibodies in the treatment of solid-organ tumors, with an estimated frequency of 4.2%. To date, the clinical spectrum and optimum treatment approach are not established. To investigate the frequency, clinical spectrum, and optimum treatment approach to neurological complications associated with anti-PD-1 therapy. This single-center, retrospective cohort study was conducted from either September or December 2014 (the approval dates of the study drugs by the US Food and Drug Administration) to May 19, 2016. All patients receiving anti-PD-1 monoclonal antibodies were identified using the Mayo Cancer Pharmacy Database. Patients with development of neurological symptoms within 12 months of anti-PD-1 therapy were included. Patients with neurological complications directly attributable to metastatic disease or other concurrent cancer-related treatments were excluded. Clinical and pathological characteristics, time to development of neurological symptoms, and modified Rankin Scale (mRS) score. Among 347 patients treated with anti-PD1 monoclonal antibodies (pembrolizumab or nivolumab), 10 (2.9%) developed subacute onset of neurological complications. Seven patients were receiving pembrolizumab, and 3 patients were receiving nivolumab. The patients included 8 men and 2 women. Their median age was 71 years (age range, 31-78 years). Neurological complications occurred after a median of 5.5 (range, 1-20) cycles of anti-PD-1 inhibitors. Complications included myopathy (n = 2), varied neuropathies (n = 4), cerebellar ataxia (n = 1), autoimmune retinopathy (n = 1), bilateral internuclear ophthalmoplegia (n = 1), and headache (n = 1). Peripheral neuropathies included axonal and demyelinating polyradiculoneuropathies (n = 2), length-dependent neuropathies (n = 1), and asymmetric vasculitic neuropathy (n = 1). The time to maximum

[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].

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Liu, Zhimei; Fang, Fang; Ding, Changhong; Wu, Husheng; Lyu, Junlan; Wu, Yun

2014-11-01

, 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. 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.

Dominant optic atrophy

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Lenaers Guy

2012-07-01

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

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

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Ricardo Erazo Torricelli

2009-01-01

. 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.