Terapia láser en afectación ocular tras el diagnóstico de incontinencia pigmenti en una niña
| Autor: | Ana Barceló Mendiguchía, Elena Bergón Sendín, Pilar Tejada Palacios, Laura Díaz Ruiz, Felisa Vázquez Gómez |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Nervous system
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty business.industry Neurocutaneous Disorder IKBKG gene Retinal Incontinentia pigmenti medicine.disease Dermatology Pediatric patient chemistry.chemical_compound medicine.anatomical_structure Laser therapy chemistry Pediatrics Perinatology and Child Health medicine sense organs Differential diagnosis skin and connective tissue diseases business |
| Zdroj: | Archivos Argentinos de Pediatria. 117 |
| ISSN: | 0325-0075 |
| Popis: | Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision. |
| Databáze: | OpenAIRE |
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