title: Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome.
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.
authors.affiliation: Department of Otology, Rhinology and Laryngology, Fundação Faculdade Federal Ciências Médicas of Porto Alegre, RS, Brazil. gds@plug-in.com.br
authors.forename: G D
authors.initials: GD
authors.lastname: Sant'Anna
authors.forename: M
authors.initials: M
authors.lastname: Saffer
authors.forename: M
authors.initials: M
authors.lastname: Mauri
authors.forename: S
authors.initials: S
authors.lastname: Facco
authors.forename: S
authors.initials: S
authors.lastname: Raupp
mesh_terms: D000293:Adolescent; D000505:Alopecia / Q000175:diagnosis; D001301:Audiometry, Pure-Tone / Q000379:methods; D001927:Brain Diseases / Q000175:diagnosis*; D002530:Cerebellopontine Angle / Q000002:abnormalities*; D004424:Ear Canal / Q000002:abnormalities*; D004817:Epidermis / Q000473:pathology*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D006801:Humans; D008068:Lipomatosis / Q000175:diagnosis*; D008297:Male; D010212:Papilloma / Q000473:pathology*; D012720:Severity of Illness Index; D013577:Syndrome; D013701:Temporal Bone / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed