ABSTRACT
ABSTRACT Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmological Colombian report of Fabry disease highlighting the importance of ocular signs as markers of the disease, useful in diagnosis and treatment to avoid long-term complications that lead to a morbi-mortality increment. We describe five cases of Fabry disease from Bogotá, Colombia, including a complete clinical history, ophthalmologic, optometric examination, and photographs. We found that all patients had refractive defects and that in all cases corneal verticillata pattern was found. Four patients presented with posterior capsule lens brown-beige deposits and four patients had conjunctival and retinal tortuous vessels. A complete ophthalmologic examination is important for prompt diagnosis, which is key to starting a multidisciplinary treatment and reducing morbi-mortality.
RESUMEN La enfermedad de Fabry es un raro trastorno ligado al cromosoma X causado por deficiencia de la enzima alfa-galactosidasa y la consiguiente y progresiva acumulación lisosómica de glucoesfingolípidos, especialmente la globotriaosilceramida, en múltiples tejidos del organismo, incluido el ojo. En este reporte se presenta la primera serie de casos de manifestaciones oculares de la enfermedad de Fabry en Colombia, resaltando la importancia de los signos oculares como ayuda para el diagnóstico temprano. Se presentan cinco casos de la enfermedad en Bogotá y se da cuenta de las historias clínicas y los exámenes oftalmológicos y de optometría, y se incluyen fotografías. En todos los pacientes se hallaron errores de refracción y se evidenció el patrón de córnea verticillata. Cuatro pacientes presentaban depósitos de color café y castaño claro en la cápsula posterior del cristalino, y cuatro tenían tortuosidad vascular conjuntival y retiniana. El examen oftalmológico completo es importante para hacer un diagnóstico oportuno con el fin de iniciar el tratamiento multidisciplinario y reducir la morbimortalidad.
Subject(s)
Adolescent , Adult , Female , Humans , Male , Young Adult , Fabry Disease/complications , Eye Diseases/diagnosis , Refractive Errors/diagnosis , Retinal Vessels/abnormalities , Cataract/diagnosis , Amblyopia/diagnosis , Fabry Disease/genetics , Colombia , Conjunctiva/abnormalities , Conjunctiva/blood supply , Heterozygote , Lacrimal Apparatus/abnormalitiesABSTRACT
We report a case of congenital lacrimal sac fistula located on the temporal side of the lateral canthus. A systemically healthy 1-year-old girl came to the outpatient clinic with a complaint of tearing on the temporal side of the right lateral canthus since birth. On examination, a small orifice was found in the skin on the temporal side of the lateral canthus. There was no evidence of inflammation or swelling within the opening. Surgeons carried out an operation under general anesthesia. They passed a probe through the lacrimal orifice and advanced it toward the lacrimal sac. Next, they introduced saline to the inferior punctum and found that it drained to the lateral fistula. The lower lid stretched as the dissected fistula was pulled. After the operation, the patient was free of the symptom. This paper is to report a case of congenital lacrimal sac fistula located on the temporal side of the lateral canthus.
Subject(s)
Female , Humans , Infant , Diagnosis, Differential , Eye Abnormalities , Fistula/congenital , Lacrimal Apparatus/abnormalities , Lacrimal Apparatus Diseases/congenitalABSTRACT
Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.
Subject(s)
Abnormalities, Multiple/etiology , Adult , Child , Cleft Lip/epidemiology , Cleft Lip/genetics , Cleft Palate/epidemiology , Cleft Palate/genetics , Cluster Analysis , Ectodermal Dysplasia/epidemiology , /genetics , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Fingers/abnormalities , Hair Color , Humans , Ichthyosis/etiology , Infant, Newborn , Lacrimal Apparatus/abnormalities , Pigmentation Disorders/etiology , Siblings , Syndrome , Urogenital Abnormalities/etiologyABSTRACT
A síndrome de Levy-Hollister ou lacrimo-auriculo-dento-digital (LADD) é uma síndrome rara, de herança autossômica dominante, podendo ocorrer de forma isolada ou em várias gerações de uma mesma família. O diagnóstico é feito por meio da identificação de anormalidades do sistema lacrimal, como redução ou ausência de produção de lágrimas, alterações ósseas, dentárias, de glândulas salivares e orelha externa. Trata-se de uma criança, de 13 anos, em acompanhamento no Hospital do Servidor Público Estadual de São Paulo desde os cinco meses de idade, com quadro clínico compatível com a síndrome, apresentando quadro de olho seco. Devido ao fato das manifestações oculares ocorrerem precocemente, sendo o oftalmologista um dos primeiros profissionais a ser procurado, o mesmo deve ter conhecimento da síndrome, a fim de diagnosticar e acompanhar adequadamente o indivíduo acometido.
Levy-Hollister or lacrimo-auriculo-dento-digital (LADD) syndrome is a rare entity with autossomic dominant inheritance occuring as an isolated form or affecting many family generations. Diagnosis is based on the identification of the lacrimal drainage system abnormalities with reduction or absence of tear production and bone, teeth, salivar glands and outer ear abnormalities. A 13 year-old male patient has been followed at the Hospital Servidor Público Estadual in São Paulo due to dry eye since his first year of life. Due to the occurrence of early ocular manifestations in patients with Levy-Hollister or lacrimo-auriculo-dento-digital syndrome, ophthalmologists must be aware to recognize and control this syndrome.
Subject(s)
Adolescent , Humans , Male , Abnormalities, Multiple/pathology , Ear, External/abnormalities , Lacrimal Apparatus/abnormalities , Salivary Glands/abnormalities , Tooth Abnormalities/pathology , Lacrimal Apparatus/pathology , SyndromeABSTRACT
Promovendo uma extensa revisäo anatomoclínica do aparelho lacrimal e suas referências com a anatomia cirúrgica do nariz, os autores assinalam a infrequente ocorrência de epífora após rinoplastias. Apresentando um caso, exemplificam a importância da existência de variaçöes anatômicas e de anomalias lacrimais ou orbitárias prévias específicas, explicitando o mecanismo etiopatogênico destas complicaçöes, assim como de seu tratamento. Ressaltam, ainda, o cuidado que se deve ter ao indicar-se a rinoplastia em pacientes que apresentam história familiar de anomalias congênitas do sistema lacrimal excretor, além do preciso diagnóstico prévio de discretas anormalidades distópicas orbitárias
Subject(s)
Humans , Female , Adult , Lacrimal Apparatus Diseases/etiology , Rhinoplasty/adverse effects , Lacrimal Apparatus/abnormalities , Lacrimal Apparatus/anatomy & histology , Lacrimal Apparatus/physiology , Lacrimal Apparatus/metabolismABSTRACT
O presente trabalho relata o caso de um paciente com Síndrome de Robinow ou Síndrome da face fetal, cujas características fenotípicas cardinais säo: encurtamento dos antebraços, bossa frontal, hipertelorismo, fenda palpebral alargada, nariz curto e antevertido, micrognatia, braquidactilia, genitália hipoplásica e cariótipo normal. O caso descrito é o segundo que apresenta alteraçöes das vias lacrimais. Tais alteraçöes, bilaterais, eram constituídas por: agenesia dos pontos e dos canalículos lacrimais superior e inferior e presença de fístula lacrimal