title: [Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral ocular damage].
abstract: 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.
authors.affiliation: Unidad de Neonatología, Departamento de Pediatría, Hospital Clínico Universitario, Santiago de Compostela, España. lopezsousa@gmail.com
authors.forename: M
authors.initials: M
authors.lastname: López Sousa
authors.forename: J
authors.initials: J
authors.lastname: Varela Iglesias
authors.forename: M
authors.initials: M
authors.lastname: Bouzón Alejandro
authors.forename: M
authors.initials: M
authors.lastname: Lojo Rodríguez
authors.forename: A
authors.initials: A
authors.lastname: Pérez Muñuzuri
authors.forename: J R
authors.initials: JR
authors.lastname: Fernández Lorenzo
mesh_terms: D003937:Diagnosis, Differential; D005124:Eye Abnormalities; D006801:Humans; D007231:Infant, Newborn; D008068:Lipomatosis / Q000175:diagnosis*; D008297:Male; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*