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2.
Ideggyogy Sz ; 73(3-4): 141-144, 2020 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-32364342

RESUMO

CANOMAD (chronic ataxic neuropathy, ophthalmoplegia, M-protein agglutination, disialosyl antibodies) syndrome is a rare polyneuropathy. IgM paraproteins react with ganglioside-containing disialylated epitopes resulting in dorsal root ganglionopathy and B-lymphocyte infiltration of cranial and peripheral nerves. Clinical features include ataxia, slight muscle weakness, areflexia, sensory- and cranial nerve symptoms. Case studies have reported the efficacy of rituximab and intravenous immunoglobulin (IVIg) treatments. We present the case of a 57-year-old man, who had difficulty walking, with numbness and clumsiness in all limbs. He had areflexia, vibratory sensation loss and ataxia. Laboratory tests showed IgM monoclonal components and disialosyl antibodies in the serum. Nerve conduction studies indicated severe sensorimotor demyelinating polyneuroradiculopathy. Despite IVIg and rituximab treatments, the patient's disease course gradually worsened and he died of respiratory failure. Neuropathological examination revealed dorsal column- and dorsal root atrophy with mixed mononuclear cell infiltration. This article aims to draw attention to this syndrome, and the use of early potent immunosuppressive treatment to improve patients' quality of life.


Assuntos
Anemia Hemolítica Autoimune , Ataxia , Oftalmoplegia , Insuficiência Respiratória , Evolução Fatal , Humanos , Masculino , Pessoa de Meia-Idade , Polineuropatias , Qualidade de Vida
3.
Orv Hetil ; 161(20): 821-828, 2020 05 01.
Artigo em Húngaro | MEDLINE | ID: mdl-32364361

RESUMO

The protein product of the nuclear-encoded POLG gene plays a key role in the maintenance of mitochondrial DNA replication, and its failure causes multi-system diseases with varying severity. The clinical spectrum is extremely wide, and the most common symptoms include ptosis, myoclonus, epilepsy, myopathy, sensory ataxia, parkinsonism, cognitive decline and infertility. Now, it is known that mitochondrial dysfunction in Parkinson's disease plays a key role in the loss of dopaminergic neurons in the substantia nigra. Therefore, changes in the POLG gene may influence the development of various hereditary neurodegenerative diseases, including monogenic parkinsonism. However, only limited information is available on the relationship between Parkinson's disease and POLG gene and until now, there are no available data about the Hungarian population. In our study, we performed a next-generation sequencing study of 67 Hungarian patients with parkinsonism and analyzed the potentially damaging alterations in the POLG gene. 3 patients have been identified with a potential pathogen variant. In this study, we would like to call attention to the fact that during the differential diagnosis of parkinsonism, the possible involvement of POLG gene should be kept in mind. Especially in the presence of additional symptoms, such as ophthalmoparesis, non-vascular white matter lesions, psychiatric comorbidity, and relatively early age of onset, the POLG gene should be taken into consideration. Based on previous data from the literature and our own experience, we have summarized a possible diagnostic approach for POLG-associated parkinsonism. Orv Hetil. 2020; 161(20): 821-828.


Assuntos
Polimerase do DNA Mitocondrial/genética , Predisposição Genética para Doença , Doença de Parkinson/genética , Comorbidade , DNA Mitocondrial/metabolismo , Humanos , Hungria , Transtornos Mentais/genética , Mutação , Oftalmoplegia/genética , Doença de Parkinson/diagnóstico , Transtornos Parkinsonianos/genética
4.
AJNR Am J Neuroradiol ; 41(7): 1184-1186, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32467190

RESUMO

Miller Fisher syndrome, also known as Miller Fisher variant of Guillain-Barré syndrome, is an acute peripheral neuropathy that can develop after exposure to various viral, bacterial, and fungal pathogens. It is characterized by a triad of ophthalmoplegia, ataxia, and areflexia. Miller Fisher syndrome has recently been described in the clinical setting of the novel coronavirus disease 2019 (COVID-19) without accompanying imaging. In this case, we report the first presumptive case of COVID-19-associated Miller Fisher syndrome with MR imaging findings.


Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Síndrome de Miller Fisher/etiologia , Pneumonia Viral/complicações , Adulto , Humanos , Imagem por Ressonância Magnética , Masculino , Oftalmoplegia/diagnóstico por imagem , Oftalmoplegia/etiologia , Pandemias
5.
6.
Rinsho Ketsueki ; 61(2): 116-121, 2020.
Artigo em Japonês | MEDLINE | ID: mdl-32147610

RESUMO

An 85-year-old man presented with right eye ptosis and visual abnormalities. Due to a lack of abnormal findings on plain magnetic resonance imaging (MRI) and laboratory examination, prednisolone therapy was initiated, and ocular myasthenia gravis and ocular symptoms subjectively improved. However, anorexia and conscious disorder appeared during the same period, and he was hospitalized for scrutiny. After admission, left eye adduction disorder and bilateral abduction nerve paralysis were also observed. Enhanced MRI revealed cranial nerve and leptomeninx enhancement. Subsequently, the patient developed seizures and died on the 10th day of hospitalization without being diagnosed. An autopsy revealed infiltration of B-cell lymphoma cells into the subarachnoid space, particularly in the parietal lobe. Similar infiltration was observed in the cerebellum, brainstem, spinal cord, and bilateral oculomotor nerve. Primary leptomeningeal lymphoma is a rare form of primary central nervous system lymphoma without simultaneous parenchymal brain lesions. Clinicians should be aware of this form of lymphoma and carefully monitor its possible occurrence, even when patients are already being treated for other neurological diseases.


Assuntos
Neoplasias do Sistema Nervoso Central , Linfoma de Células B , Oftalmoplegia , Idoso de 80 Anos ou mais , Humanos , Imagem por Ressonância Magnética , Masculino
8.
Medicine (Baltimore) ; 99(4): e18805, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31977873

RESUMO

RATIONALE: Anti-GQ1b antibody syndrome refers to a distinct variant of Guillain- Barré syndrome. Involvement of the optic nerve in anti-GQ1b antibody syndrome is extremely rare. PATIENT CONCERNS: Here, we report a case of anti-GQ1b antibody syndrome presenting with visual deterioration as the initial symptom. A 73-year-old man presented with a 5-day history of bilateral blurred vision and ptosis. He had a previous history of diarrhea starting 10 days before admission. Physical examination showed visual deterioration, ophthalmoplegia, and peripheral facial paralysis. Testing of both serum and cerebrospinal fluid was positive for anti-GQ1b immunoglobulin G antibodies and negative for anti-aquaporin 4antibodies. DIAGNOSIS: Anti-GQ1b antibody syndrome. INTERVENTIONS: The patient was treated with intravenous methylprednisolone and human immunoglobulin. OUTCOMES: After a 20-day follow-up, the patient's condition took a favorable turn. LESSONS: This case reminds us that anti-GQ1b antibody syndrome should be suspected in patients with visual deterioration and preceding infection.


Assuntos
Síndrome de Guillain-Barré/diagnóstico , Imunoglobulina G/sangue , Idoso , Autoanticorpos/sangue , Síndrome de Guillain-Barré/sangue , Síndrome de Guillain-Barré/classificação , Síndrome de Guillain-Barré/tratamento farmacológico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Masculino , Oftalmoplegia/diagnóstico , Oftalmoplegia/etiologia , Síndrome , Transtornos da Visão/etiologia
9.
J Clin Neurosci ; 72: 458-460, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31879056

RESUMO

Tolosa-Hunt syndrome is a rare disorder characterized by severe peri-orbital headache and ophthalmoplegia resulting from pseudotumour in the cavernous sinus compressing structures within it, namely cranial nerves III, IV, and VI and the superior divisions of cranial nerve V. We report the case of a 47 year old female who presented with painless left unilateral ptosis and complete external ophthalmoplegia. Magnetic Resonance Imaging (MRI) identified an enhancing heterogeneous mass filling the left cavernous sinus, following the course of the oculomotor nerve. After 2 weeks symptoms and signs resolved and there was a parallel resolution of the MRI findings, without the administration of corticosteroids. As far as we are aware this is one of the first reports of Tolosa-Hunt syndrome variant, with painless neurological involvement confined solely to the oculomotor nerve, and with complete resolution without pharmacological intervention.


Assuntos
Síndrome de Tolosa-Hunt/diagnóstico , Blefaroptose , Seio Cavernoso/patologia , Nervos Cranianos , Feminino , Humanos , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Nervo Oculomotor , Oftalmoplegia/diagnóstico , Nervo Trigêmeo/patologia
10.
Neurology ; 94(6): e635-e638, 2020 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-31852814

RESUMO

Our objective was to evaluate whether IV immunoglobulin (IVIg) increases the risk of thromboembolic events in neurology outpatients with inflammatory neuropathies, as there is conflicting evidence supporting this hypothesis, mainly from non-neurologic cohorts. We investigated this question over 30 months in our cohort of patients with inflammatory neuropathies receiving regular IVIg and found a greater incidence of arterial and venous thromboembolic events than population-based rates determined by hospital admissions data. Vascular risk factors were more common in the event group but there were no IVIg administration factors that contributed to the risk. This study suggests that IVIg may have a small but contributory role in determining thromboembolic risk in the inflammatory neuropathy cohort and more evidence is required before it is clear whether the current primary prevention guidelines are appropriate in this group of patients.


Assuntos
Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Polineuropatias/terapia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/terapia , Tromboembolia/epidemiologia , Anemia Hemolítica Autoimune/terapia , Ataxia/terapia , Humanos , Incidência , Infarto do Miocárdio/epidemiologia , Oftalmoplegia/terapia , Embolia Pulmonar/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Neuropatia de Pequenas Fibras/terapia , Acidente Vascular Cerebral/epidemiologia , Síndrome da Veia Cava Superior/epidemiologia , Trombose Venosa/epidemiologia
11.
BMC Ophthalmol ; 19(1): 254, 2019 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-31842812

RESUMO

BACKGROUND: To investigate the surgical outcomes of strabismus related to iatrogenic occlusion of the ophthalmic artery and its branches from cosmetic facial filler injection. METHODS: A retrospective study was performed on 6 patients who underwent strabismus surgery among 23 patients who had suffered occlusion of the ophthalmic artery and its branches after cosmetic facial filler injection. Initial, preoperative and final ocular motility examinations, the type of surgery and surgical outcomes were evaluated. RESULTS: At initial presentation, visual acuity was no light perception in 5 patients and hand motion in one patient. Five out of 6 patients showed initial ophthalmoplegia. Among these 5 patients, eye motility fully recovered in 3 patients although sensory strabismus developed during follow-up, while the remaining 2 patients had persistent ocular motility limitations. Strabismus surgery was performed at 2.2 ± 1.5 years after iatrogenic ophthalmic artery occlusion. Preoperatively, 5 of the 6 patients showed exotropia, and one patient had esotropia. Vertical deviation was found in 3 out of 6 patients in addition to the horizontal deviation. Successful outcome was achieved only in the 4 patients without persistent ophthalmoplegia after 1.4 ± 1.0 years from surgery. The other two patients with persistent ocular motility limitations failed to achieve successful alignment after surgery, and one patient eventually underwent evisceration due to phthisis bulbi. CONCLUSIONS: In our study, surgical outcomes of strabismus caused by cosmetic facial filler injection were successful only in patients without persistent ophthalmoplegia at the time of surgery.


Assuntos
Arteriopatias Oclusivas/induzido quimicamente , Preenchedores Dérmicos/efeitos adversos , Músculos Oculomotores/cirurgia , Artéria Oftálmica/efeitos dos fármacos , Procedimentos Cirúrgicos Oftalmológicos , Estrabismo/cirurgia , Adulto , Arteriopatias Oclusivas/diagnóstico , Humanos , Doença Iatrogênica , Oftalmoplegia/induzido quimicamente , Estudos Retrospectivos , Ritidoplastia , Estrabismo/induzido quimicamente , Estrabismo/fisiopatologia , Resultado do Tratamento , Visão Binocular/fisiologia , Acuidade Visual/fisiologia , Adulto Jovem
12.
Dis Model Mech ; 12(12)2019 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-31874912

RESUMO

The core myopathies are a group of congenital myopathies with variable clinical expression - ranging from early-onset skeletal-muscle weakness to later-onset disease of variable severity - that are identified by characteristic 'core-like' lesions in myofibers and the presence of hypothonia and slowly or rather non-progressive muscle weakness. The genetic causes are diverse; central core disease is most often caused by mutations in ryanodine receptor 1 (RYR1), whereas multi-minicore disease is linked to pathogenic variants of several genes, including selenoprotein N (SELENON), RYR1 and titin (TTN). Understanding the mechanisms that drive core development and muscle weakness remains challenging due to the diversity of the excitation-contraction coupling (ECC) proteins involved and the differential effects of mutations across proteins. Because of this, the use of representative models expressing a mature ECC apparatus is crucial. Animal models have facilitated the identification of disease progression mechanisms for some mutations and have provided evidence to help explain genotype-phenotype correlations. However, many unanswered questions remain about the common and divergent pathological mechanisms that drive disease progression, and these mechanisms need to be understood in order to identify therapeutic targets. Several new transgenic animals have been described recently, expanding the spectrum of core myopathy models, including mice with patient-specific mutations. Furthermore, recent developments in 3D tissue engineering are expected to enable the study of core myopathy disease progression and the effects of potential therapeutic interventions in the context of human cells. In this Review, we summarize the current landscape of core myopathy models, and assess the hurdles and opportunities of future modeling strategies.


Assuntos
Conectina/metabolismo , Proteínas Musculares/metabolismo , Músculo Esquelético/fisiopatologia , Miopatias Congênitas Estruturais/fisiopatologia , Miopatia da Parte Central/fisiopatologia , Oftalmoplegia/fisiopatologia , Canal de Liberação de Cálcio do Receptor de Rianodina/deficiência , Selenoproteínas/metabolismo , Alcaloides/farmacologia , Animais , Modelos Animais de Doenças , Progressão da Doença , Regulação da Expressão Gênica , Estudos de Associação Genética , Variação Genética , Células HEK293 , Humanos , Masculino , Camundongos , Camundongos Transgênicos , Debilidade Muscular , Proteínas Quinases/metabolismo , Rianodina/metabolismo , Canal de Liberação de Cálcio do Receptor de Rianodina/metabolismo
13.
BMJ Case Rep ; 12(10)2019 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-31676501

RESUMO

A 73-year-old man presented to accident and emergency with headache and diplopia. Examination of the eye movements revealed a bilateral complete horizontal gaze palsy. On admission, a CT scan of the brain was performed, which was unremarkable. An MRI of the brain was then performed, which confirmed tiny acute infarcts involving the pons and the right cerebellum. This man was promptly treated with aspirin 300 mg one time per day, as per the stroke pathway. Further diagnostic workup later revealed atrial flutter. This man was therefore commenced on apixaban. The differential diagnoses for bilateral gaze palsy include the following: multiple sclerosis, infarction, haemorrhage and space occupying lesion. Bilateral gaze palsy is often associated with other neurological symptoms.


Assuntos
Flutter Atrial/diagnóstico , Encéfalo/diagnóstico por imagem , Infarto Cerebral/complicações , Oftalmoplegia/etiologia , Ponte/diagnóstico por imagem , Idoso , Anti-Inflamatórios não Esteroides/administração & dosagem , Anti-Inflamatórios não Esteroides/uso terapêutico , Aspirina/administração & dosagem , Aspirina/uso terapêutico , Flutter Atrial/tratamento farmacológico , Flutter Atrial/fisiopatologia , Encéfalo/patologia , Diagnóstico Diferencial , Diplopia/etiologia , Inibidores do Fator Xa/administração & dosagem , Inibidores do Fator Xa/uso terapêutico , Cefaleia/etiologia , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Oftalmoplegia/diagnóstico , Ponte/patologia , Pirazóis/administração & dosagem , Pirazóis/uso terapêutico , Piridonas/administração & dosagem , Piridonas/uso terapêutico , Acidente Vascular Cerebral/prevenção & controle , Resultado do Tratamento
15.
Medicine (Baltimore) ; 98(47): e18006, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31764815

RESUMO

RATIONALE: One-and-a-half syndrome (OAAH) is characterized as the combination of ipsilateral horizontal gaze palsy and internuclear ophthalmoplegia. OAAH syndrome accompanied with 7th and 8th cranial nerve palsy is called 16-and-a-half syndrome. We aimed to report the case of 16-and-a-half syndrome with metastatic pons tumor. PATIENT CONCERNS: A 57-year-old male diagnosed with nonsmall-cell lung cancer (NSCLC) with brain metastasis occurring 15 months ago was referred to our clinic with the chief complaint of horizontal diplopia and right gaze palsy. DIAGNOSIS: According to the patient symptom, ocular examination, and radiographic findings, he was diagnosed as 16-and-a-half syndrome which was caused by brain tumor metastasis from NSCLC. INTERVENTIONS: We referred him to hemato-oncology department and he was treated with radiation and supportive therapy. OUTCOMES: Unfortunately, the patient passed away 1 month later without improvement of ophthalmoplegia. LESSONS: The clinical findings of our case indicate 16-and-a-half syndrome caused by brain tumor metastasis from NSCLC, which to our knowledge has not been previously reported. The case highlights a rare cause of OAAH spectrum disease and the importance of a systemic work-up including associated neurologic symptoms and brain imaging in patients with horizontal gaze palsy.


Assuntos
Neoplasias Encefálicas/complicações , Doenças do Nervo Facial/etiologia , Transtornos da Motilidade Ocular/etiologia , Oftalmoplegia/etiologia , Ponte , Doenças do Nervo Vestibulococlear/etiologia , Neoplasias Encefálicas/secundário , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome
16.
Neurology ; 93(22): e1997-e2006, 2019 11 26.
Artigo em Inglês | MEDLINE | ID: mdl-31649112

RESUMO

OBJECTIVE: To identify a proximal anterior circulation occlusion for effectively administering immediate mechanical thrombectomy by developing a novel, simple diagnostic scale to predict the occlusion, to compare its validity with available scales, and to assess its utility. METHODS: To develop a novel clinical scale, we retrospectively analyzed a cohort of 429 patients with acute ischemic stroke from a single center. The novel scale GAI2AA was applied to a prospective cohort of 259 patients from 3 stroke centers for external validation. The utility of the scale as an in-hospital triage was compared for the temporal factors of 158 patients with the occlusion. RESULTS: In a scale-developmental phase, those with a proximal anterior circulation occlusion had significantly more frequent signs of hemispheric symptoms, including gaze palsy, aphasia, inattention, arm paresis, and atrial fibrillation. The GAI2AA scale was developed using consolidated hemispheric symptoms and was scored as follows: score = 2, arm paresis score = 1, and atrial fibrillation score = 1. A cutoff value ≥3 was optimal for the correlation between sensitivity (88%) and specificity (81%), with a C statistic of 0.90 (95% confidence interval 0.87-0.93). External validation indicated that discrimination was significantly better than or not different from that of available complex scales. Door-to-puncture time was significantly reduced (91 [82-111] vs 52 [32-75] minutes, p < 0.001). CONCLUSION: The GAI2AA scale showed high sensitivity and specificity when an optimal cutoff score was used and was useful as an in-hospital triage tool.


Assuntos
Trombose das Artérias Carótidas/diagnóstico , Infarto da Artéria Cerebral Média/diagnóstico , Trombectomia , Triagem/métodos , Idoso , Idoso de 80 Anos ou mais , Afasia/etiologia , Braço , Fibrilação Atrial/epidemiologia , Atenção , Isquemia Encefálica , Trombose das Artérias Carótidas/complicações , Trombose das Artérias Carótidas/fisiopatologia , Trombose das Artérias Carótidas/terapia , Angiografia Cerebral , Angiografia por Tomografia Computadorizada , Feminino , Hospitalização , Humanos , Infarto da Artéria Cerebral Média/complicações , Infarto da Artéria Cerebral Média/fisiopatologia , Infarto da Artéria Cerebral Média/terapia , Modelos Logísticos , Angiografia por Ressonância Magnética , Imagem por Ressonância Magnética , Masculino , Análise Multivariada , Razão de Chances , Oftalmoplegia/etiologia , Paresia/etiologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/terapia , Tempo para o Tratamento , Tomografia Computadorizada por Raios X
17.
Curr Opin Ophthalmol ; 30(6): 462-466, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31567467

RESUMO

PURPOSE OF REVIEW: This article will update and review the Miller Fisher variants (MFV) of Guillain-Barré syndrome (GBS) including the clinical presentation, diagnostic testing, and treatment. RECENT FINDINGS: Although the diagnosis of GBS and MFV can be made on clinical grounds, cerebrospinal fluid (CSF) analysis, nerve conduction studies, imaging (e.g. ultrasound and MRI), and serologic testing can help to confirm the diagnosis. Some patients may need immunotherapy with either intravenous immunoglobulin (IVIg) or plasma exchange, and recent studies suggest that complement inhibition combined with IVIg could be of benefit, but further studies are needed to prove efficacy. SUMMARY: GBS is characterized by an acute, ascending polyneuropathy, ataxia, areflexia, and CSF albuminocytologic dissociation. The MFV of GBS is associated with ophthalmoplegia. Clinicians should have high index of suspicion for MFV of GBS in patients with acute ophthalmoplegia in order to establish the diagnosis, perform appropriate evaluation, and start treatment. SDC VIDEO LINK:.


Assuntos
Síndrome de Miller Fisher/diagnóstico , Oftalmoplegia/diagnóstico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Imunoterapia , Síndrome de Miller Fisher/terapia , Oftalmoplegia/terapia
18.
BMJ Case Rep ; 12(9)2019 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-31519722

RESUMO

Monocular elevation deficit can result from either inferior rectus restriction, superior rectus palsy or from supranuclear causes. We report a case of monocular elevation deficit after scleral perforation repair which was managed by surgery on contra lateral eye. This improved elevation of the affected eye with no diplopia in the postoperative period.


Assuntos
Diplopia/etiologia , Transtornos da Motilidade Ocular/cirurgia , Oftalmoplegia/etiologia , Esclera/lesões , Adulto , Diagnóstico Diferencial , Diplopia/diagnóstico , Diplopia/prevenção & controle , Movimentos Oculares/fisiologia , Humanos , Masculino , Transtornos da Motilidade Ocular/fisiopatologia , Músculos Oculomotores/patologia , Músculos Oculomotores/fisiopatologia , Músculos Oculomotores/cirurgia , Oftalmoplegia/fisiopatologia , Período Pós-Operatório , Esclera/patologia , Esclera/cirurgia , Perfuração Espontânea/cirurgia , Resultado do Tratamento
19.
Mitochondrion ; 49: 227-231, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31521625

RESUMO

Chronic progressive external ophthalmoplegia (CPEO) is a common presentation of mitochondrial disease. We performed a retrospective evaluation of the molecular genetic testing and genotype-phenotype correlations in a large cohort of adult-onset CPEO patients (N = 111). One hundred percent of patients tested had at least one mitochondrial DNA (mtDNA) deletion. Genetic testing of nuclear genes encoding mitochondrial proteins identified pathogenic/likely pathogenic variants likely to be associated with CPEO in 7.6% of patients. As expected, the nuclear gene most associated with DNA variation was POLG. A single likely pathogenic mitochondrial DNA variant (m.12278T>C) was identified in two unrelated patients. No significant differences were noted in the clinical phenotypes of patients with pathogenic or likely pathogenic nuclear variants in comparison to those with negative nuclear gene testing. Analysis of deletion size and heteroplasmy in muscle-derived mtDNA showed significant correlations with age of symptom onset but not disease severity (number of canonical CPEO features). Results suggest that smaller mtDNA deletions (p = 0.0127, r2 = 0.1201) and higher heteroplasmy of single mtDNA deletions (p = 0.0112, r2 = 0.2483) are associated with an earlier age of onset in CPEO patients.


Assuntos
Sequência de Bases , DNA Mitocondrial/genética , Variação Genética , Genótipo , Oftalmoplegia/genética , Mutação Puntual , Deleção de Sequência , Adulto , Idade de Início , Doença Crônica , Polimerase do DNA Mitocondrial/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
20.
Strabismus ; 27(4): 218-222, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31490084

RESUMO

Sjögren's syndrome (SS) is an autoimmune disease causing destruction of the exocrine glands secondary to lymphocytic infiltration. Common clinical symptoms of SS are xerostomia, xerophthalmia, myalgia, arthritis, and vasculitis. Neurological symptoms may precede the diagnosis of SS by up to 2 years in about 80% of patients. A 28-year-old female presented to us with complaints of horizontal and vertical diplopia along with inability to move the right eye and sudden drooping of the right upper eyelid. She was a recently diagnosed case of type 2 diabetes mellitus and had a history of foreign body sensation in both eyes for 4 months. Schirmers I test revealed less than 5 mm of wetting in both eyes after 5 min, suggesting dry eyes. On immunological blood investigations, serum c-peptide was normal, rheumatoid factor was negative, antinuclear antibodies were positive, and proliferating cell nuclear antigens were positive. Extractable Nuclear Ag profile RO 52 was strongly positive suggestive of primary SS. Lip biopsy revealed mild-to-moderate chronic inflammation showing irregular acanthotic epidermis, and dermis had perivascular lymphocytic infiltrate. Thus, the possible diagnosis of primary SS with type 2 diabetes mellitus and right-sided total external ophthalmoplegia was made. Patient was prescribed subcutaneous insulin, multivitamins, tear substitutes and alternate patching. Later on insulin was replaced by oral hypoglycemics. The external ophthalmoplegia completely resolved within 6 weeks. So, total external ophthalmoplegia can be added to the spectrum of central nervous system involvement in SS.


Assuntos
Oftalmoplegia/diagnóstico , Síndrome de Sjogren/diagnóstico , Adulto , Encéfalo/diagnóstico por imagem , Diabetes Mellitus Tipo 2/diagnóstico , Diplopia/diagnóstico , Feminino , Humanos , Imagem por Ressonância Magnética , Lágrimas/fisiologia
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