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Published on: September 20, 2018
[Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral ocular damage]
M López Sousa1, J Varela Iglesias, M Bouzón Alejandro
1Unidad de Neonatología, Departamento de Pediatría, Hospital Clínico Universitario, Santiago de Compostela, España. lopezsousa@gmail.com
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.
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