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1.
BMC Med Imaging ; 24(1): 97, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38671380

RESUMO

BACKGROUND: The aim of this study was to evaluate the ability of two novel eyelid curvature measurements to distinguish between normal eyes and different severities of blepharoptosis. METHODS: A comparative cross-sectional analysis of upper eyelid curvature was performed for different severities of patients with unilateral blepharoptosis (congenital and aponeurotic) and normal controls. Mean upper lid contour index (ULCI) and area circularity index (ACI) were calculated for each group by dividing the intercanthal distance by upper eyelid margin length (ULCI) and dividing the interpalpebral area by the area of a circle enclosing the eye (ACI). The ratio of each index for the study and fellow normal eye of each patient was also calculated and compared between groups. RESULTS: A total of 106 eyes including 30 eyes in the control group and 25, 27, and 24 eyes in the mild, moderate, and severe ptosis groups were enrolled in the study. ULCI and ACI showed a statistically significant difference between the groups (p < 0.001, p < 0.001). The inter-eye ratio (ULCI-ratio and ACI-ratio) of indices was also significantly different between groups (p = 0.002, p < 0.001). Pairwise comparisons revealed that ACI and ACI-ratio were significantly different between all pairs of study groups. CONCLUSION: The results of our study showed that ACI based on area measurements may distinguish blepharoptosis patients from normal controls and from each other. Including the data from the fellow normal eyes in the form of ratio indices may improve the differentiating power. These results can be useful in designing the optimal eyelid curvature measurements.


Assuntos
Blefaroptose , Pálpebras , Humanos , Blefaroptose/diagnóstico por imagem , Pálpebras/diagnóstico por imagem , Pálpebras/anormalidades , Pálpebras/patologia , Pálpebras/anatomia & histologia , Feminino , Masculino , Estudos Transversais , Adulto , Pessoa de Meia-Idade , Adolescente , Idoso , Estudos de Casos e Controles , Adulto Jovem , Criança
3.
J Cosmet Dermatol ; 20(11): 3616-3622, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33605025

RESUMO

BACKGROUND: Eyebrow tattooing (ET) is a relatively common cosmetic procedure for middle-aged women which can hide age-related ptosis. AIMS: We aimed to evaluate the periocular soft tissue changes following ET and its effects on upper eyelid blepharoplasty (UEBL). PATIENTS/METHODS: In this non-randomized prospective case-controlled study, 28 subjects recruited, 14 with ET for at least 5 years and 14 without ET. Eyebrows ultrasonography was performed to measure the periocular soft tissue thickness including skin and subcutaneous tissue on the medial and lateral side of the eyebrow. Then, UEBL was performed with extended eyelid skin incisions. So, the excised tissues being evaluated histopathologically. RESULTS: The mean age of patients was 50.6 ± 0.6 and 51.2 ± 5.59 years in non-eyebrow tattooing (NET) and ET groups, respectively (P = .78). In the ET group, soft tissue thickness was, respectively, equal to 5.90 ± 1.10 and 6.3 ± 0.95 mm on the lateral and medial side of the eyebrow, which were significantly thicker compared to the NET group (4.68 ± 0.69 and 4.78 ± 0.56 mm, respectively)(P = .001). Histopathological findings were ranging from edema-congestion to chronic inflammation and dermal fibrosis which were more frequently seen in ET group. However, this difference was statistically significant only for dermal fibrosis (P = .02). Surgical wound complications were observed in 3 patients who were in the ET group (P = .22). CONCLUSION: Subjects with eyebrow tattooing, as compared to a control group, showed a thicker eyebrow skin on ultrasonography and higher upper eyelid dermal fibrosis on histopathological examination.


Assuntos
Blefaroplastia , Blefaroptose , Tatuagem , Blefaroplastia/efeitos adversos , Blefaroptose/diagnóstico por imagem , Blefaroptose/etiologia , Blefaroptose/cirurgia , Sobrancelhas , Pálpebras/diagnóstico por imagem , Pálpebras/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade
4.
J Craniofac Surg ; 31(4): e407-e409, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32209942

RESUMO

Idiopathic orbital inflammation (IOI) is a benign inflammatory disease usually confined to the orbit. Two middle-aged patients with IOI have been reported who could have been misdiagnosed as involutional ptosis. Two patients presented to the clinic with eyelid ptosis. One patient's erythrocyte sedimentation rate was slightly increased; the other patient's immunoglobulin G4 (IgG4), IgG, and thyroid-stimulating hormone results were higher than the upper limits of normal. The computed tomographic images and orbit magnetic resonance imaging tests showed an inflammatory condition around the droopy eyelids. They were both admitted to the hospital with diagnosis of IOI, and intravenous antibiotic and steroid treatment were administered, which improved their symptoms.


Assuntos
Blefaroptose/diagnóstico por imagem , Músculos Oculomotores/diagnóstico por imagem , Pseudotumor Orbitário/diagnóstico por imagem , Erros de Diagnóstico , Humanos , Inflamação , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Tomografia Computadorizada por Raios X
5.
J Craniofac Surg ; 30(7): 2211-2213, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31369506

RESUMO

In this report, the authors introduce a rare complication after reduction malarplasty in 2 patients. One patient underwent temporal rhytidectomy and malar osteotomy. The other patient underwent zygoma grinding without osteotomy. Both patients presented malar depression and cheek ptosis after surgery and visited the clinic. Physical examination, cephalometric radiographs, and facial 3-dimensional computed tomography were conducted, which indicated total zygomatic arch bone resorption. After examining the possible causes of the complication, the authors concluded that preserving enough blood supply and performing adequate rigid fixation of the separated zygoma bone are key prevention for bone resorption. This is the first report of total zygomatic arch bone resorption after reduction malarplasty.


Assuntos
Reabsorção Óssea/diagnóstico por imagem , Procedimentos de Cirurgia Plástica/efeitos adversos , Zigoma/diagnóstico por imagem , Adulto , Blefaroptose/diagnóstico por imagem , Blefaroptose/etiologia , Reabsorção Óssea/etiologia , Craniotomia/efeitos adversos , Face/cirurgia , Ossos Faciais/cirurgia , Feminino , Humanos , Osteotomia , Exame Físico , Radiografia , Ritidoplastia , Tomografia Computadorizada por Raios X/métodos
6.
Curr Eye Res ; 44(10): 1075-1079, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31148484

RESUMO

Purpose: To propose a novel approach for automated measurements of margin reflex distance (MRD) using digital image analysis and to evaluate the agreement between automated and manual measurements of MRD. Materials and Methods: This observational study included 132 eyes of 66 volunteers referred to an oculoplastic clinic for blepharoptosis. Preoperative facial photographs of participants were taken. MRD1 and MRD2 were measured manually by a senior surgeon and automatically by our image-based algorithm. Correlation analyses and Bland-Altman analyses were performed to evaluate the agreement between the two measurements. Results: A strong positive correlation was observed between automated and manual MRD1 measurements, with Spearman's r = 0.968 (95% confidence interval [CI] = 0.949-0.976; P < .001) and intraclass correlation coefficient (ICC) = 0.966 (95% CI = 0.953-0.976; P < .001). The bias between automated and manual MRD1 measurements was 0.02 mm (95% CI = -0.06-0.10 mm), with 95% limits of agreement (LoA) = -0.88 to 0.92 mm. Agreement also existed in MRD2 measurements, with Spearman's r = 0.803 (95% CI = 0.716-0.865; P < .001), ICC = 0.833 (95% CI = 0.772-0.879; P < .001), and bias = 0.34 mm (95% CI = 0.26-0.42 mm), 95% LoA = -0.54 to 1.22 mm. Conclusions: Automated eyelid measurements in blepharoptosis using the image-based approach compare favorably with clinical manual measurements. This novel approach allows an objective assessment of ptosis with high accuracy.


Assuntos
Blefaroptose/diagnóstico por imagem , Pálpebras/diagnóstico por imagem , Fotografação/métodos , Adolescente , Adulto , Blefaroplastia , Blefaroptose/cirurgia , Piscadela , Criança , Pré-Escolar , Pálpebras/cirurgia , Feminino , Humanos , Lactente , Masculino
9.
Rev Med Chil ; 146(8): 857-863, 2018 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-30534863

RESUMO

BACKGROUND: Cerebral ptosis is understood as the bilateral paralysis of eyelid elevation linked to a stroke or hemorrhage of the middle cerebral artery (MCA). It is a transient condition, independent of the evolution of the lesion. AIM: To analyze six patients with the condition. PATIENTS AND METHODS: Report of five women and one male aged 42 to 72 years. RESULTS: All suffered an infarction or hemorrhage in the territory of the middle cerebral artery of the non-dominant hemisphere and developed a bilateral palpebral ptosis. The recovery started after the fourth day. At the tenth day, eye opening was effortless and did not require frontal help, despite the persistence of hemiplegia. CONCLUSIONS: Cerebral ptosis is a mimetic dysfunction of a specific non-injured area of the cerebral cortex, originated from a nearby parenchymal damage such as the middle cerebral artery of the same hemisphere. Cerebral ptosis expresses the inhibition of the voluntary eyelid elevation center, of prefrontal location in the non-dominant hemisphere.


Assuntos
Blefaroptose/diagnóstico por imagem , Infarto Cerebral/diagnóstico por imagem , Artéria Cerebral Média/diagnóstico por imagem , Adulto , Idoso , Blefaroptose/fisiopatologia , Blefaroptose/terapia , Infarto Cerebral/fisiopatologia , Infarto Cerebral/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Artéria Cerebral Média/fisiopatologia , Tomografia Computadorizada por Raios X
10.
Can J Ophthalmol ; 53(5): 462-465, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30340711

RESUMO

OBJECTIVE: To introduce "iris show," the amount of visible iris tissue between the superior pupil border and the upper eyelid margin, to evaluate the effect of iris show on perceived upper eyelid height, and to discuss potential nonsurgical treatment options for mild blepharoptosis. METHODS: Participants completed a survey containing 4 subject photographs. These photographs depicted images of varying iris colouration (blue, green, light brown, and dark brown) with identical upper eyelid marginal reflex distance (MRD1) values, but asymmetric pupil size/amount of visible iris show. Study participants were asked to select the eyelid that appeared "droopier," or choose "same height." Statistical analyses used 1-tailed and 2-tailed t tests. RESULTS: 390 participants completed the survey. In photographs of blue and green irides, both eyelids had equal MRD1s, but the eyelid with less iris show was perceived as more ptotic (p = 0.002 and 0.03, respectively). In patients with dark brown irides, eyelid heights were perceived as identical despite differences in iris show (p = 0.002). CONCLUSIONS: Decreased iris show corresponds to perceived lowering of the upper eyelid in light-coloured irides (e.g., blue and green), but may be less impactful in brown and/or dark brown irides where the iris tissue is less distinguishable from the pupil. Topical instillation of apraclonidine may represent a nonsurgical option for treatment of mild blepharoptosis in patients with light irides as it both elevates the upper eyelid margin and induces miosis, resulting in an increase in iris show and corresponding enhanced perception of upper eyelid elevation.


Assuntos
Blefaroptose/tratamento farmacológico , Clonidina/análogos & derivados , Pálpebras/diagnóstico por imagem , Iris/diagnóstico por imagem , Adolescente , Agonistas de Receptores Adrenérgicos alfa 2/administração & dosagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Blefaroptose/diagnóstico por imagem , Clonidina/administração & dosagem , Pálpebras/efeitos dos fármacos , Expressão Facial , Feminino , Humanos , Instilação de Medicamentos , Masculino , Pessoa de Meia-Idade , Prognóstico , Adulto Jovem
12.
Rev. méd. Chile ; 146(8): 857-863, ago. 2018. graf
Artigo em Espanhol | LILACS | ID: biblio-978768

RESUMO

Background: Cerebral ptosis is understood as the bilateral paralysis of eyelid elevation linked to a stroke or hemorrhage of the middle cerebral artery (MCA). It is a transient condition, independent of the evolution of the lesion. Aim: To analyze six patients with the condition. Patients and Methods: Report of five women and one male aged 42 to 72 years. Results: All suffered an infarction or hemorrhage in the territory of the middle cerebral artery of the non-dominant hemisphere and developed a bilateral palpebral ptosis. The recovery started after the fourth day. At the tenth day, eye opening was effortless and did not require frontal help, despite the persistence of hemiplegia. Conclusions: Cerebral ptosis is a mimetic dysfunction of a specific non-injured area of the cerebral cortex, originated from a nearby parenchymal damage such as the middle cerebral artery of the same hemisphere. Cerebral ptosis expresses the inhibition of the voluntary eyelid elevation center, of prefrontal location in the non-dominant hemisphere.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Blefaroptose/diagnóstico por imagem , Infarto Cerebral/diagnóstico por imagem , Artéria Cerebral Média/diagnóstico por imagem , Blefaroptose/fisiopatologia , Blefaroptose/terapia , Tomografia Computadorizada por Raios X , Infarto Cerebral/fisiopatologia , Infarto Cerebral/terapia , Artéria Cerebral Média/fisiopatologia
13.
Indian J Ophthalmol ; 66(3): 383-388, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29480247

RESUMO

PURPOSE: To study the features of upper eyelid in healthy individual and different types of congenital ptosis in the Indian population using ultrasound biomicroscopy (UBM). METHODS: This was a prospective observational study at a tertiary care center. Eyelid structure of healthy individuals with no eyelid abnormalities (n = 19); simple congenital ptosis (n = 33) cases; Marcus Gunn jaw-winking ptosis (MGJWP, n = 7) cases, and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, n = 20) cases were studied on a vertical UBM scan using 50-MHz probe. Lid-thickness, tarsal-thickness, orbicularis oculi and levator-Muller-orbital septum-conjunctival (LMSC) complex were measured in primary gaze. Comparison was made between four groups and results were statistically analyzed using ANOVA test. In normal individuals, LMSC measurements were repeated in down-gaze imaging. RESULTS: Skin with subcutaneous tissue, LMSC complex and pre-aponeurotic fat-pad appeared echodense while orbicularis oculi and tarsus appeared echolucent. In primary gaze, mean thickness (± standard deviation) of the eyelid, tarsus, orbicularis oculi and LMSC, respectively, were: 1.612 ± 0.205, 0.907 ± 0.098, 0.336 ± 0.083, and 0.785 ± 0.135 mm in normal individual. LMSC showed 46.64% increase in thickness on down-gaze. The mean eyelid thickness and LMSC were thicker in MGJWP and BPES as compared to normal. In different types of congenital ptosis cases, various patterns of UBM imaging were observed. CONCLUSION: UBM allows noninvasive imaging of eyelid structures with good anatomical correspondence in normal eyelids and study the structural alterations of eyelids in different types of congenital ptosis. UBM can be used to highlight the anatomical difference in normal eyelids that may help modify the surgery for better cosmetic outcomes. Furthermore, it has the potential to be used in preoperative evaluation and operative planning in certain types of acquired ptosis, which needs to be evaluated.


Assuntos
Blefarofimose/diagnóstico por imagem , Blefaroptose/diagnóstico por imagem , Pálpebras/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Anormalidades Maxilomandibulares/diagnóstico por imagem , Microscopia Acústica , Doenças do Sistema Nervoso/diagnóstico por imagem , Anormalidades da Pele/diagnóstico por imagem , Anormalidades Urogenitais/diagnóstico por imagem , Adolescente , Adulto , Povo Asiático/etnologia , Blefarofimose/etnologia , Blefaroptose/etnologia , Criança , Feminino , Voluntários Saudáveis , Cardiopatias Congênitas/etnologia , Humanos , Índia , Anormalidades Maxilomandibulares/etnologia , Masculino , Doenças do Sistema Nervoso/etnologia , Estudos Prospectivos , Reflexo Anormal , Anormalidades da Pele/etnologia , Anormalidades Urogenitais/etnologia , Adulto Jovem
14.
J Neurointerv Surg ; 10(3): e2, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29326377

RESUMO

An infant presented with right upper eyelid ptosis and was subsequently diagnosed with acquired Horner syndrome. Further evaluation revealed a right-sided cervicothoracic lymphatic malformation. At 13 weeks of age, the child underwent percutaneous intracystic sclerotherapy with a mixture of sodium tetradecyl sulphate and ethanol. Twenty-one weeks after initial treatment, ophthalmic examination showed complete resolution of the blepharoptosis and pupillary miosis. Percutaneous sclerotherapy not only effectively treated the space-occupying lymphatic malformation but also reversed the Horner syndrome that was presumably induced by neural tension (more likely) or compression.


Assuntos
Síndrome de Horner/diagnóstico por imagem , Síndrome de Horner/terapia , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/terapia , Escleroterapia/métodos , Blefaroptose/diagnóstico por imagem , Blefaroptose/terapia , Etanol/administração & dosagem , Humanos , Lactente , Recém-Nascido , Tetradecilsulfato de Sódio/administração & dosagem
15.
Ophthalmic Plast Reconstr Surg ; 34(1): 13-19, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-27984360

RESUMO

PURPOSE: To describe the change in upper eyelid position in a self-reportedly normal population after the administration of topical 0.5% apraclonidine in each eye. METHODS: One hundred self-reportedly normal subjects received a 1-time administration of topical 0.5% apraclonidine in each eye. Digital photographs were taken at baseline and then 30 and 45 minutes following apraclonidine instillation. Marginal reflex distance 1 was determined via image analysis of acquired digital photographs (image-derived measurements are given the prefix "i" in this study). The horizontal corneal diameter was used as a constant measurement scale in each photograph. RESULTS: The mean increase in i-marginal reflex distance 1 post-administration of 0.5% apraclonidine was +0.70 ± 0.60 mm (range, -0.94 to +2.66 mm) after 30 minutes and +0.68 ± 0.59 mm (range, -0.69 to +2.54 mm) after 45 minutes. Of the 200 total eyelids in 100 subjects, 181 (90.5%) had an increase in i-marginal reflex distance 1 at 30 minutes. Of the 100 subjects, 85 (85%) had a bilateral increase in i-marginal reflex distance 1, 4 (4%) had a bilateral decrease, and 11 (11%) had a unilateral increase with a contralateral decrease. CONCLUSIONS: Given its predominant small-amplitude upper eyelid elevating effect, topical apraclonidine may be a useful off-label alternative treatment for mild upper eyelid ptosis and in eyelid asymmetry due to eyelid retraction through use in the contralateral eye.


Assuntos
Blefaroptose/tratamento farmacológico , Clonidina/análogos & derivados , Pálpebras/efeitos dos fármacos , Administração Tópica , Agonistas de Receptores Adrenérgicos alfa 2/administração & dosagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Blefaroptose/diagnóstico por imagem , Clonidina/administração & dosagem , Relação Dose-Resposta a Droga , Pálpebras/diagnóstico por imagem , Pálpebras/fisiologia , Feminino , Seguimentos , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Soluções Oftálmicas , Fotografação , Autorrelato , Adulto Jovem
16.
Neurol Sci ; 39(2): 377-378, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29134445

RESUMO

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of upper and lower motor neurons that usually spare the oculomotor nerves. Here, we describe a case of two siblings with a familial bulbar-onset ALS both with ptosis manifested at the onset of the disease.


Assuntos
Esclerose Lateral Amiotrófica/complicações , Blefaroptose/complicações , Idoso , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Blefaroptose/diagnóstico por imagem , Progressão da Doença , Saúde da Família , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Fenótipo , Tomografia Computadorizada por Raios X
17.
Medicine (Baltimore) ; 96(36): e8003, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28885362

RESUMO

BACKGROUND: Postoperative complications, lagophthalmos and exposure keratopathy sometimes occur after surgery for congenital blepharoptosis. Bandage contact lenses (BCL) can help prevent some ocular surface disorders. The study aims to evaluate the efficacy and safety of BCL for protection of the ocular surface in children aged 5 to 11 years after frontalis muscle flap suspension for congenital blepharoptosis. METHODS: We conducted a prospective randomized clinical study of 30 eyes of 30 patients with congenital blepharoptosis consecutively enrolled at the Ophthalmology Ward of the Children's Hospital of Chongqing Medical University, China from September 1, 2016, to February 30, 2017. After frontalis muscle flap suspension surgery, patients were randomly assigned to undergo BCL application (BCL group, 15 eyes) or no BCL application (control group, 15 eyes). All patients were treated with bramycin 0.3% and polyvinyl alcohol drops after surgery. The primary outcomes were dry eye assessed by tear film break time (TFBUT), fluoresce in corneal staining (FCS) on slit-lamp on days 1, 3, and 15 postoperatively, and lower tear meniscus height (LTMH) on optical coherence tomography on days 1 and 15 postoperatively. Secondary outcomes were pairwise correlation of TFBUT, FCS and LTMH. RESULTS: In the BCL group, abnormal TFBUT and FCS were only found in 2 patients (13.33%) on postoperative day 15. In the control group, the incidence of dry eye assessed by TFBUT was 67.00% (10/15 eyes) on day 1, 73.33% (11/15 eyes) on day 3, and 53.33% (8/15 eyes) on day 15 (P < .001). LTMH were significantly higher in the BCL group than the control group postoperatively (P < .001). Significant positive correlations were found between LTMH and TFBUT pre-operation and on days 1 and 15 post-operation. For LTMH and FCSS (R = -0.815, P < .001), and TFBUT and FCS (R = -0.837, P < .001), the Pearson coefficient was negative on postoperative day 1, but not correlated on day 15. CONCLUSIONS: Silicone hydrogel BCL were safe and efficacious for protective use in children after frontalis muscle flap suspension for congenital blepharoptosis.


Assuntos
Bandagens , Blefaroptose/terapia , Lentes de Contato , Complicações Pós-Operatórias/prevenção & controle , Retalhos Cirúrgicos , Anti-Infecciosos/administração & dosagem , Blefaroptose/diagnóstico por imagem , Criança , Pré-Escolar , Síndromes do Olho Seco/diagnóstico por imagem , Síndromes do Olho Seco/prevenção & controle , Feminino , Seguimentos , Humanos , Hidrogéis , Masculino , Soluções Oftálmicas , Álcool de Polivinil/administração & dosagem , Complicações Pós-Operatórias/diagnóstico por imagem , Silicones , Tomografia de Coerência Óptica , Resultado do Tratamento
19.
Pract Neurol ; 17(1): 57-59, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27888234

RESUMO

Acute bilateral ptosis can be a hallmark of several serious neurological conditions. We present the first case of acute bilateral near-complete ptosis secondary to neuromyelitis optica spectrum disorder. We suggest that clinicians should consider this disorder among the differential diagnosis of acute bilateral ptosis, especially if there are other brainstem signs.


Assuntos
Blefaroptose/diagnóstico por imagem , Neuromielite Óptica/diagnóstico por imagem , Idoso , Blefaroptose/sangue , Blefaroptose/tratamento farmacológico , Diagnóstico Diferencial , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Neuromielite Óptica/sangue , Neuromielite Óptica/tratamento farmacológico
20.
Neuromuscul Disord ; 26(11): 805-808, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27666773

RESUMO

Myotonia congenita is a non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction caused by a mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). We encountered a case of Thomsen disease with ptosis. A short tau inversion recovery MR imaging demonstrated high-intensity lesions in the levator palpebrae superioris muscles. Molecular genetic testing revealed a heterozygosity for the c.1439C>A (p.P480H) mutation in the CLCN1 gene. The expression level of ClC-1 was significantly reduced on the sarcolemma of the biceps brachii muscle from the patient, compared with that from healthy volunteer. Functional analysis of the p.P480H mutation is required for further elucidating the pathogenesis of Thomsen disease.


Assuntos
Blefaroptose/complicações , Blefaroptose/diagnóstico por imagem , Canais de Cloreto/genética , Músculo Esquelético/patologia , Miotonia Congênita/complicações , Miotonia Congênita/diagnóstico por imagem , Blefaroptose/genética , Blefaroptose/patologia , Canais de Cloreto/metabolismo , Humanos , Imageamento por Ressonância Magnética , Masculino , Músculo Esquelético/metabolismo , Miotonia Congênita/genética , Miotonia Congênita/patologia , Adulto Jovem
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