Lipomatosis encefalocraneocutánea (síndrome de Haberland) con afectación ocular bilateral
- M. López Sousa 1
- Juan José Varela Iglesias 1
- Marta Bouzón Alejandro 1
- M. Lojo Rodríguez 1
- Alejandro Pérez Muñuzuri 1
- José Ramón Fernández Lorenzo 1
- 1 Hospital Clínico Universitario. Santiago de Compostel
ISSN: 1695-4033, 1696-4608
Ano de publicación: 2007
Volume: 66
Número: 6
Páxinas: 619-621
Tipo: Artigo
Outras publicacións en: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )
Resumo
Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is an unusual form of neurocutaneous syndrome. Clinically, this syndrome is characterized by unilateral lipomatous hamartomas on the scalp and face, ocular damage and ipsilateral malformations of the central nervous system. First described by Haberland and Perou in 1970, only about 40 cases have been reported to date. The differential diagnoses with other neurocutaneous mosaicisms such as Delleman, Goltz, Goldenhar or Proteus syndrome may entail some degree of difficulty due to overlapping features. We report a case of Haberland syndrome in a neonate with bilateral ocular damage, illustrating the wide heterogeneity of this syndrome.