Related Experiment Video
Updated: Oct 2, 2026

Lipidomics and Transcriptomics in Neurological Diseases
Published on: March 18, 2022
Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome
G D Sant'Anna1, M Saffer, M Mauri
1Department of Otology, Rhinology and Laryngology, Fundação Faculdade Federal Ciências Médicas of Porto Alegre, RS, Brazil. gds@plug-in.com.br
Abstract:
Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital disorder and was first described in 1970. The main clinical features of the syndrome include convulsions beginning in infancy, mental retardation, and unilateral cutaneous and ophthalmologic lesions with ipsilateral cerebral manifestations. A 14-year-old caucasian boy with ECCL associated with otolaryngologic manifestations is reported. To our knowledge, this is the first case of ECCL with otolaryngologic manifestation in the English literature.
Related Concept Videos
Cushing Syndrome II: Pathophysiology
Encephalitis l: Introduction
Multiple Sclerosis l: Introduction
Cerebral Edema ll: Pathophysiology
