RESUMO
El síndrome de Goltz, o hipoplasia dérmica focal, es un desorden multisistémico raro que involucra la piel, el sistema músculo-esquelético, los ojos, el pelo, las uñas y el riñón, entre otros, con considerable variación en los rasgos clínicos. El examen oftalmológico del caso que se presenta corresponde a una niña con microftalmia en el ojo izquierdo, obstrucción del conducto nasolagrimal en el ojo derecho y coloboma de iris y del nervio óptico del ojo microftálmico, además de esotropia sensorial. El diagnóstico fue confirmado por genética como una hipoplasia dérmica focal que, a pesar de ser poco común, debemos conocerlo para poderlo identificar si se presentara en nuestra consulta(AU)
Goltz syndrome or focal dermal hypoplasia is a rare multisystemic disorder involving the skin, the musculoskeletal system, the eyes, the hair, the nails and the kidney among others, with considerable variation in clinical features. The ophthalmological examination of the case presented in this paper shows a girl who has microphthalmia in the left eye, nasolacrimal duct obstruction in the right eye and coloboma of the iris and optic nerve in the microphthalmic eye in addition to sensory esotropia. The diagnosis was confirmed by genetic studies and it was focal dermal hypoplasia, which is a rare disease but we should learn about it to be able to identify it if some patient with the disease goes to our service(AU)
Assuntos
Humanos , Feminino , Lactente , Esotropia/diagnóstico , Hipoplasia Dérmica Focal/diagnóstico , Microftalmia/diagnóstico , Ducto Nasolacrimal/anormalidadesRESUMO
A 53 year-old woman presented a recurrent bifrontal headache of 2 years duration and bilateral progressive visual disturbance. The clinical and neurological examination showed a bilateral feet adactyly and bitemporal hemianopsia. The brain MRI demonstrated a Rathke's cleft cyst. The patient was operated by a transnasal endoscopic approach. It seems that this unusual association has never been described before.
Mulher de 53 anos com história recorrente de cefaléia com duração de 2 anos bilateral e progressiva, acompanhada de distúrbios visuais. O exame clinico e neurológico mostrou uma adactilia dos pés e hemianopsia bitemporal. A ressonância nuclear magnética cerebral mostrou um cisto de Rathke. A paciente foi operada por via transnasal endoscópica. Aparentemente esta é a primeira vez que esta associação é descrita na literatura.