Lipomatosis encefalocraneocutánea (síndrome de Haberland) con afectación ocular bilateral

  1. M. López Sousa 1
  2. J. Varela Iglesias 1
  3. M. Bouzón Alejandro 1
  4. M. Lojo Rodríguez 1
  5. A. Pérez Muñuzuri 1
  6. J.R. Fernández Lorenzo 1
  1. 1 Hospital Clínico Universitario. Santiago de Compostel
Revista:
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

ISSN: 1695-4033 1696-4608

Ano de publicación: 2007

Volume: 66

Número: 6

Páxinas: 619-621

Tipo: Artigo

DOI: 10.1157/13107399 DIALNET GOOGLE SCHOLAR lock_openAcceso aberto editor

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.