A Case of Extensive Epibulbar Choristoma Associated with Microphthalmos

PURPOSE: Choristomas represent congenital overgrowth of normal tissues in an abnormal location. The simultaneous presence of epibulbar choristoma and microphthalmos has rarely been reported. The authors report a case of extensive epibulbar choristoma associated with microphthalmos. CASE SUMMARY: A 9-day-old boy with the left eyeball absent from birth was referred to our clinic. A large cornea-like structure covered by keratinized membrane was observed inside the eyelid aperture, therefore buphthalmos or corneal staphyloma with microphthalmos was presumed. At the age of 2 months, a large mass of central conjunctival sac protruded through the left eyelid aperture. Manual reduction could not return the tissue to its original site and the mass immediately protruded again. At the age of 9 months, orbital magnetic resonance imaging showed the small presumed ocular tissue behind the large mass of fat signal in the central anterior orbit, therefore, extensive epibulbar choristoma associated with microphthalmos was diagnosed. At 12 months of age, partial excision of the protruding portion of the mass was performed. Based on pathologic examination, the mass was determined to be a choristoma and cosmetically acceptable appearance with prosthesis was maintained for 10 months after the surgery. CONCLUSIONS: Because there is no vision in extensive choristoma associated with microphthalmos, the treatment goal is cosmetic improvement. Conjunctivoplasty following partial mass excision for prosthesis wearing is a good treatment option.

Manifestações oftalmológicas de Síndrome de Klippel Trenaunay / Ophthalmological manifestation of the Klippel Trenaunay Syndrome

RESUMO A Síndrome de Klippel-Trenaunay (SKT) é uma doença congênita rara, com maior prevalência no sexo masculino e incidência de 2-5:100.000. Apresenta-se, na forma clássica, como a tríade de manchas vinho porto, hipertrofia de membros e malformação venosa e/ou linfática. O diagnóstico é essencialmente clínico e devido à complexidade da síndrome, de natureza progressiva e ampla variedade de apresentações clínicas, os pacientes devem ser tratados de forma individualizada por uma equipe multidisciplinar. Alterações oftalmológicas associadas à SKT incluem anormalidades vasculares da órbita, íris, retina, coroide e nervo óptico. Relato de caso: Paciente de 23 anos, sexo feminino, portadora de SKT, em acompanhamento no Centro da Visão - Universidade Federal do Paraná, com queixa de diminuição da acuidade visual em olho direito. A paciente apresentava manchas vinho porto em dimidio direito e hipertrofia de membros ipsilateral. Foi diagnosticado glaucoma e realizados exames complementares oftalmológicos a fim de avaliar o grau de comprometimento dos campos visuais e o fundo de olho. A visão com a melhor correção foi de 20/100 OD e foi de 20/20 OE. À fundoscopia, constatou-se aumento da escavação do nervo óptico à direita - 0,75 x 0,90 mm. Optou-se por tratamento clínico com Cloridrato de Dorzolamida, Latanoprosta, Brimonidina e Timolol, com bons resultados a longo prazo - a tonometria de aplanação mostrou 19 mmHg OD e 15 mmHg OE, apesar da dificuldade na estabilização da doença. Conclusão: Relatos demonstram que os resultados dos tratamentos clínico e cirúrgico do glaucoma em associação à SKT são insatisfatórios quando comparados a outros tipos de glaucoma - o controle clínico não é possível em cerca de 1/3 dos pacientes, e o manejo cirúrgico tem alto índice de complicações. São necessários estudos mais expressivos que estabeleçam a correlação entre glaucoma e SKT e embasem o tratamento de escolha.

ABSTRACT The Klippel-Trenaunay Syndrome (KTS) is a rare congenital disease, which the prevalence is higher in males, and its incidence of 25:100,000. It is presented in its classic form as the triad of port-wine stains, enlarged limbs and venous and / or lymphatic malformation. The diagnosis is essentially clinical and due to the complexity of the syndrome, the progressive characteristic and the wide variety of clinical presentations, a multidisciplinary team should treat patients individually. The ocular changes associated with KTS include vascular, orbit, iris, retina, choroid and optic nerve abnormalities. Case report: A 23-year-old female patient, carrier KTS, being followed at Vision Center - Federal University of Paraná, complaining of decreased visual acuity in the right eye. The patient had port-wine stains in right hemibody and hypertrophy of ipsilateral members. Glaucoma was diagnosed and eye exams were performed to assess the degree of impairment of visual fields and fundus. The best correction was checked at 20/100 OD and 20/20 OS. At fundoscopy, there was increased excavation of the optic nerve right - 0.75 x 0.90 mm. Clinical treatment was chosen with Dorzolamide Hydrochloride, Latanoprost, Brimonidine and Timolol, presenting good long-term results - the tonometry showed 19 mmHg OD and 15 mmHg OS, despite the difficulty in stabilizing the disease. Conclusion: Reports have shown that the results of clinical and surgical treatments of glaucoma in association with KTS are unsatisfactory compared to other types of glaucoma - clinical control is not possible in about 1/ 3 of patients and the surgical management has a high rate of complications. Significant studies are needed to establish the correlation between glaucoma and KTS, and base the treatment of choice.

Buphthalmos development in adult: case report / Buftalmus em adulto: relato de caso

To report a case of extensive globe enlargement due to secondary glaucoma in a young adult suffering from ocular surface disorders related to hypohidrotic ectodermal dysplasia. To the best of our knowledge, this is the first report of buphthalmos in the adulthood.

Relato de caso do aumento extenso do globo ocular decorrente de glaucoma secundário e disfunção de superfície ocular em um paciente adulto jovem portador de displasia ectodérmica anidrótica. Primeiro relato de caso de buftalmo em adulto.

Xantogranuloma juvenil diseminado con buftalmos, hipema, aumento de presión ocular, en una niña de 4 meses de edad / Disseminated juvenile xanthogranuloma with buphthalmos, hyphema, high intraocular pressure, on a tour month-old infant girl

El xantogranuloma juvenil es un tumor benigno secundario a una proliferación de células histiocíticas que se presenta en lactantes y niños; su aparición en adultos es ocasional. Se inicia en forma repentina por la aparición de lesiones cutáneas papulonodulares rojizo anaranjadas, redondeadas, de 2 a 6 mm, que se localizan preferentemente en cara y parte superior del cuerpo. Se resuelve en forma espontánea en un período variable. Las lesiones suelen estar limitadas a la piel pero pueden tener otra localización. La ocular es una de las que puede presentar severas complicaciones que incluyen glaucoma, hipema, proptosis y amaurosis como en la paciente de 4 meses que presentamos.

Juvenile xantogranuloma (JXG) is a benign tumor due to the prolifera-tion of histiocytic cells, which appears in infants and children and occasionanlly in adults. It has a sudden onset which consists of erythematous or yellowish, papulonodular, slightly raised lesions, with a diameter varying from 2 to 6 mm. It is usually located on the face and upper part of the body, and has a spontaneous remission in a variable period of time. Although lesions are usually limited to the skin, other organs may be involved. Ocular involvement may lead to severe complications including glaucoma, hyphema, proptosis and blindness, as the four months-old patient we report.

Glaucoma congénito / Congenital glaucoma

El glaucoma congénito es una enfermedad rara cuya incidencia exacta es difícil de determinar, la mayoría de los pacientes no se manifiestan al nacimiento a causa de la pequeña producción de humor acuoso en los primeros meses. La aparición precoz tienen un mal pronóstico, estos pacientes tiene un drenaje tan alterado que ni siquiera pueden manejar la escasa cantidad de humor acuoso producida por el ojo del neonato. Se describe un paciente con glaucoma congénito diagnosticado en la etapa de lactante cuya alteración más significativa resultó ser en agrandamiento antero posterior del globo ocular.

The congenital glaucoma is a strange disease whose exact incidence is difficult to determine, most of the patients are not declareed at birth because of the small production of aqueous humor in the first months. The precocious apparition has a bad prognosis, these patients have such an altered drainage that they cannot even manage the scarce quantity of aqueous humor produced by the eye of the neonate. A patient is described with congenital glaucoma diagnosed in the lactation stage whose most significant alteration turned out to be in the anteroposterior enlargement of the eyeball.

Buphthalmos: a twelve-year review at Ibadan

Objective: To review the presentation; management; follow-up and outcome of management of children presenting with buphthalmos at the University College Hospital (UCH); Ibadan. Methods: This was a retrospective review of cases of buphthalmos seen at the UCH Ibadan; between 1991 and 2002. The case notes of patients seen in the Eye Clinic during the period were reviewed. All children diagnosed with buphthalmos or congenital glaucoma were identified; and their case notes studied in greater details. Results: Twenty seven eyes in 15 children with buphthalmos were reviewed. This represented 0.1 percent of all new patients; and 0.6 percent of new paediatric cases seen within the study period. Their ages ranged between 22 days and nine years (mean; 25.5 months). Sixty percent were aged 18 months or less; 80 percent were boys and the disease was bilateral in 80 percent of cases. Only one (6.7 percent) patient presented with the classical triad of epiphora; photophobia and blepharospasm; while four (26.7 percent) presented with both epiphora and photophobia. Two (13.3 percent) patients had associated cardiac abnormalities. Of the 27 buphthalmic eyes; 21 (77.8 percent) had trabeculectomy; with good intraocular pressure control (i.e. 21mmHg) after surgery in 14 eyes (66.7 percent). Of these; three (21.4 percent) required medication to achieve such control. The duration of follow-up from the time of initial presentation ranged between 2.5 months and 6.75 years (mean; 25.9 months). Six (40 percent) of the patients were followed up for more than a year; while 60 percent were lost to follow-up. Out of 10 eyes in which the visual acuity was objectively measured; two (20 percent) had good visual outcome (i.e. visual acuity 6/18 or better); while six had poor outcome due to complications associated with late presentation. Due to lack of appropriate facilities; visual acuity was not assessed objectively in 17 eyes. Conclusion: Buphthalmos is a rare disease in Ibadan and occurs predominantly in males. Majority of cases are bilateral. In this study; trabeculectomy achieved adequate pressure control in the majority of cases and as such; it appeared to be a good option in the management of buphthalmos in black patients. The main problems were late presentation and poor follow up. The public needs to be educated on making early use of available health services. There is also a need to introduce; equip and provide support for paediatric ophthalmology units

Congenital hydrocephalus associated with congenital glaucoma and natal teeth.

We report the first described association of natal teeth with congenital hydrocephalus and congenital glaucoma, anterior segment dysgenesis with non-attachment of the retina. The clinical findings support a diagnosis of Walker-Warburg syndrome. The forkhead 7 transcription factor gene is proposed as a candidate gene for this syndrome.

Patología de córnea. Estafiloma corneal / Corneal pathology. Anterior staphyloma

Los estafilomas son ectasias corneales caracterizados por un gran alargamiento del segmento anterior. Generalmente dicha lesión corneal se encuentra con metaplasia queratinizada. Este proceso es originado por anomalías en el desarrollo del segmento anterior, se sugiere una falla en la migración de tejido mesenquimático. El pronóstico para la función visual es malo el tratamiento sólo mejora la cuestión estética

Lipomas intracranianos / Intracranial lipomas

Os lipomas sao lesoes constituídas por um tecido gorduroso maduro. Apesar de sua grande freqüência no homem, em especial no tecido celular subcutâneo, sao raramente encontrados em localizaçao intracraniana. O corpo caloso é o local mais freqüente, porém já foram descritos casos em quase todos os locais do encéfalo. Freqüentemente sao assintomáticos, porém podem cursar com um quadro de cefaléia, crises convulsivas, alteraçoes mentais ou déficits focais. O tratamento é conservador na maioria dos casos. Os autores apresentam 5 casos de lipomas intracranianos. Em quatro casos a lesao localizava-se no corpo caloso e em um caso ocupava a regiao supra-selar. A queixa mais comum foi a cefaléia constante, presente em dois casos. Um caso apresentava buftalmo unilateral. O tratamento foi sintomático em todos os casos.

Lowe's syndrome in a female child: A case report / 대한정형외과학회잡지

Lowe et al. have described a disease characterized by organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation, this disease is now called as Lowe's syndrome or oculo-cerebro-renal syndrome which manifests growth plates, metabolic acidosis, and characteristic eye changes, including bilateral cataract, glaucoma and nystagmus. It is a congenital hereditary affectation. Most of the patients with this syndrome are male sex. We report a new case of Lowe's syndrome in a 5-year old girl.

A Case of Sturge-Weber Syndrome

Sturge-Weber syndrome is a congenital disorder characterized by facial nevus flammeus along the distribution of the trigeminal nerve, ipsilatal leptomeningioma, buphthalmos, and choroidal angioma. The Authors experienced a case of Sturge-Weber syndrome in 9 year old female patient and glaucoma was controlled by trabecuectomy without any complications.

Secondary Glaucoma in Neurofibromatosis with Non-Pigmented Nodules of the Iris, Ectropion Uveae and Buphthalmos

Neurofibromatosis (von Recklinghausen's disease) involves the eye in a great variety of clinical appearances. Secondary glaucoma with congenital ectropion uveae and mild buphthalmos in one eye and non-pigmented nodules in the iris of both eyes were observed in a 9-year-old girl with generalized neurofibromatosis. The patient also exhibited pigmented patches (cafe-au-lait spots) and multiple nodular masses of the skin. Two of the masses were excised and vitrified as plexiform neurofibroma, microscopically. This paper reports clinical, biomicroscopic, ophthalmoscopic, gonioscopic and histological findings in the patient.

A Case of Incomplete form cf Sturge-Weber Syndrome

Sturge-Weber syndrome is a neurocutaneous syndrome characterized by portwine nevus of the face with angiomatosis of the ipsilateral cerebral leptomeninges and extensive calcification in the underlying cerebral cortex. Associated features include mental retardation, generalized or focal seizures, hemiparesis, choroidal angioma, & buphthalmos or glaucoma. We experienced a case of incomplete form of Sturge-Weber syndrome in a 12 year-old boy, who had generalized seizure, a homonymous hemianopsia, intracranial calficication and leptomeningeal angiomatosis without facial nevus or mental retardation. So we presented a case with a brief review of related literatures.

rare association of neurofibromatosis with marfan's syndrome

A Family consisting of two brothers and a sister showing a rate association o neurofibromatosis and Marfan syndromes is presented. A possible gehetic explanation is given