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1.
Neonatal Medicine ; : 49-52, 2018.
Artículo en Inglés | WPRIM | ID: wpr-741653

RESUMEN

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.


Asunto(s)
Humanos , Recién Nacido , Aneurisma , Aorta , Aneurisma de la Aorta , Arterias , Conductos Biliares , Tejido Conectivo , Enfermedades del Tejido Conjuntivo , Diagnóstico , Dilatación , Diagnóstico Precoz , Síndrome de Ehlers-Danlos , Exones , Hernia Hiatal , Inestabilidad de la Articulación , Corea (Geográfico) , Síndrome de Loeys-Dietz , Angiografía por Resonancia Magnética , Síndrome de Marfan , Tamizaje Masivo , Padres , Análisis de Secuencia de ADN , Malformaciones Vasculares , Vena Cava Inferior
2.
Neurointervention ; : 53-55, 2014.
Artículo en Inglés | WPRIM | ID: wpr-730171

RESUMEN

Tortuous arteries are common clinical observation. Although mild tortuosity is asymptomatic, severe tortuosity can lead to ischemic attack in several organs. With advances in imaging technology, an increasing number of tortuous vessels have been detected. The purpose of this report is to describe a case of acute cerebral infarction due to tortuous subclavian artery and to review the literature.


Asunto(s)
Arterias , Infarto Cerebral , Arteria Subclavia
3.
Journal of the Korean Ophthalmological Society ; : 1710-1713, 2014.
Artículo en Coreano | WPRIM | ID: wpr-41554

RESUMEN

PURPOSE: To report a case of Posner-Schlossman syndrome with retinal arterial tortuosity in a young male. CASE SUMMARY: A 15-year-old male presented to our department with a halo in his left vision. Best corrected visual acuity was 0.6 and intraocular pressure was 59 mm Hg in the left eye. Slit lamp examination revealed corneal edema, keratic precipitate, deep anterior chamber, anterior chamber cell (1+) and open angle. Fundus examination revealed increased cup/disc (C/D) ratio and retinal arterial tortuosity. After treatment with anti-glaucomatic eyedrops, steroid eyedrops, and nonsteroidal anti-inflammatory drug (NSAID) eyedrops, intraocular pressure decreased to 15 mm Hg and C/D ratio decreased. CONCLUSIONS: Posner-Schlossman syndrome can occur even at an early age and must be included in the differential diagnosis of glaucoma in pediatric patients. Additional studies should be conducted regarding the association between retinal arterial tortuosity and Posner-Schlossman syndrome.


Asunto(s)
Adolescente , Humanos , Masculino , Cámara Anterior , Edema Corneal , Diagnóstico Diferencial , Glaucoma , Presión Intraocular , Soluciones Oftálmicas , Retinaldehído , Agudeza Visual
4.
Rev. cuba. invest. bioméd ; 32(3): 357-365, jul.-sep. 2013.
Artículo en Español | LILACS | ID: lil-705688

RESUMEN

Se comunican las características clínicas de una mujer de 68 años de edad y sus dos hijas (36 y 33 años) que presentaban un conjunto de anomalías de probable origen hereditario. Se les efectuaron interconsultas con varias especialidades: medicina interna, genética, cardiología, radiología, angiología, psiquiatría, dermatología, otorrinolaringología, máxilo-facial, oftalmología y neurología. Los hallazgos comunes a las tres pacientes consistieron en tortuosidad de los vasos retinianos, glaucoma crónico de ángulo abierto, braquidactilias y otros dismorfismos en dedos de manos y pies, hallux valgus, telangiectasias en mejillas y tórax superior, orejas en ®asa», hiperostosis frontal, tórax excavado e insuficiencia mitral. El glaucoma neovascular se presentó en un ojo de cada hija. Este complejo padecimiento clínico, con alteraciones en miembros, faciales, cardiovasculares, oculares y en piel con una posible herencia de tipo autosómico dominante por su presencia en dos generaciones sucesivas, no se corresponde con ningún síndrome de los considerados en este informe


Presentation of the clinical characteristics of a 68-year-old woman and her two daughters, aged 36 and 33, who had a number of abnormalities of probable hereditary origin. Interconsultations were conducted with several specialties: internal medicine, genetics, cardiology, radiology, angiology, psychiatry, dermatology, otorhinolaryngology, maxillofacial, ophthalmology and neurology. The findings common to the three patients were retinal arterial tortuosity, chronic open angle glaucoma, brachydactyly and other dysmorphic disorders of fingers and toes, hallux valgus, telangiectasia in cheeks and upper thorax, protruding ears, frontal hyperostosis, pectus excavatum and mitral insufficiency. Both daughters had neovascular glaucoma in one of their eyes. This complex clinical condition, with disorders involving limbs, face, the cardiovascular system, eyes and skin, and a potential autosomal dominant inheritance in view of its presence in two successive generations, does not correspond to any of the syndromes considered in this report


Asunto(s)
Humanos , Femenino , Adulto Joven , Anciano , Herencia/genética , Síndrome de Weill-Marchesani/diagnóstico , Síndrome de Weill-Marchesani/genética
5.
Journal of Genetic Medicine ; : 47-51, 2013.
Artículo en Inglés | WPRIM | ID: wpr-83941

RESUMEN

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-beta receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.


Asunto(s)
Aneurisma , Arterias , Fisura del Paladar , Enfermedades del Tejido Conjuntivo , Constricción Patológica , Cefalea , Hipertelorismo , Inestabilidad de la Articulación , Síndrome de Loeys-Dietz , Enfermedades Cutáneas Genéticas , Úvula , Malformaciones Vasculares
6.
Korean Journal of Ophthalmology ; : 57-58, 2009.
Artículo en Inglés | WPRIM | ID: wpr-39306

RESUMEN

A 44-year-old woman who showed recurrent vitreous hemorrhages with vascular tortuosity received CT angiography which revealed an internal carotid artery aneurysm. A case of internal carotid aneurysm was associated with a pattern of retinal arteriolar tortuosity pathognomic for familial retinal arterial tortuosity (fRAT), suggesting possible involvement of the cerebral circulation. We present a case of internal carotid aneurysm associated with a pattern of retinal arteriolar tortuosity pathognomic for fRAT.


Asunto(s)
Adulto , Femenino , Humanos , Aneurisma/complicaciones , Angiografía , Enfermedades de las Arterias Carótidas/complicaciones , Arteria Carótida Interna , Diagnóstico Diferencial , Anomalías del Ojo/complicaciones , Estudios de Seguimiento , Arteria Retiniana/anomalías , Tomografía Computarizada por Rayos X , Anomalía Torsional/complicaciones , Agudeza Visual
7.
Journal of the Korean Ophthalmological Society ; : 267-272, 1999.
Artículo en Coreano | WPRIM | ID: wpr-75464

RESUMEN

The isolated abnormal arterial tortuosity in a 65 year old male patient with the branch retinal vein occlusion was found in non-perfusion area near the macular region. The arterial tortuosity anastomosed with the vein across the median raphe. It was what is called the the arteriovenous anastomosis. The author deduced the pathogenesis of the arterial tortuosity in arteriovenous anastomosis as following. The sclerosis of the arterial branch occurs in the severe ischemic state in the non-perfusion area following the branch retinal vein occlusion. The arterial blood easily have to flow to the unoccluded vein through only one or a few collateral channel(s). Such a arterial flow need the reduction of arterial pressure and the pathologic changes of the artery. As a result, the artery have to reduce the radius and to increase the length.


Asunto(s)
Anciano , Humanos , Masculino , Presión Arterial , Arterias , Anastomosis Arteriovenosa , Radio (Anatomía) , Oclusión de la Vena Retiniana , Vena Retiniana , Retinaldehído , Esclerosis , Venas
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