Diagnóstico prenatal de síndrome de Delleman-Oorthuys

El síndrome de Delleman-Oorthuys (síndrome oculocerebrocutáneo) es un trastorno esporádico, congénito y poco frecuente caracterizado por microftalmia / anoftalmia con o sin quistes orbitales, defectos cutáneos focales y alteraciones intracraneales. Debido a la distribución asimétrica de las características clínico-radiológicas, ausencia de recurrencia dentro de la familia y su mayor frecuencia en el sexo masculino, se ha propuesto la posibilidad de mosaicismo somático o mutaciones esporádicas en la quinta o sexta semana de desarrollo fetal. Los criterios diagnósticos mínimos sugeridos incluyen microftalmia o quistes orbitales, quistes del sistema nervioso central o hidrocefalia y defectos focales de piel. Dada la variabilidad en las manifestaciones y la superposición con otros síndromes, el diagnóstico puede ser difícil, pero la detección prenatal de esta rara anomalía congénita con malformaciones cerebrales es crucial en el manejo de los recién nacidos. Los estudios por imágenes para la evaluación de las características son útiles en la identificación y diferenciación de los casos. Se presenta un caso de diagnóstico prenatal de síndrome de Delleman-Oorthuys.

Delleman-Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital, sporadic disorder characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, and intracranial alterations. Due to an asymmetric distribution of the clinico-radiological features, absence of recurrence within the family and its higher frequency in males, the possibility of somatic mosaicism or sporadic mutations in the fifth or sixth week of fetal development has been proposed. Suggested minimal diagnostic criteria include microphthalmia or orbital cysts, central nervous system cysts or hydrocephalus, and focal skin defects. Given the variability of manifestations and overlap with other syndromes, diagnosis can be difficult, but prenatal detection of this rare congenital anomaly with cerebral malformations is crucial in the management of newborns. Imaging studies for evaluation of features are helpful in the identification and differentiation of cases. A case of prenatal diagnosis of Delleman-Oorthuys syndrome is presented.

Encephalocraniocutaneous lipomatosis: A case report and review of the literature.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular examination of the right eye showed hypertrophy of bulbar conjunctiva with limbal dermoid, clouding of cornea, and atypical upper eyelid coloboma. The left eye showed conjunctival congestion and corneal vascularization. Dermatological examination showed alopecia, nevus psiloliparus, focal dermal hypoplasia on forehead, multiple focal aplastic lesions on the scalp, skin tag at canthus, and lipoma in the fronto-temporal region. Imaging revealed calcifi cation of the right globe, hydrocephalus, agenesis of corpus callosum, multiple intracranial cysts, calcifi cation, and lipomas. The constellation of these clinical and the imaging fi ndings led to a diagnosis of encephalocraniocutaneous lipomatosis. This case report and review of the literature is presented to provide a synopsis of problems likely to be encountered by an ophthalmologist who treats patients with ECCL.