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