title: Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis.
abstract: Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by classical cutaneous and ocular lesions with central nervous system anomalies. We describe an infant with classical encephalocraniocutaneous lipomatosis characterized by probable naevus psiloliparus, frontal subcutaneous lipomas, ocular limbal dermoids and arachnoid cysts, and ventriculomegaly. He also had giant congenital nevus with leptomeningeal melanosis. This case represents a rare association between encephalocraniocutaneous lipomatosis and neurocutaneous melanosis.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Puneet
authors.initials: P
authors.lastname: Jain
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Biswaroop
authors.initials: B
authors.lastname: Chakrabarty
authors.affiliation: Department of Radio-Diagnosis, JPNA Trauma Centre, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Atin
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India sheffaligulati@gmail.com.
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
mesh_terms: D002831:Choroid Plexus / Q000473:pathology; D005128:Eye Diseases / Q000150:complications*; D006801:Humans; D007223:Infant; D020547:Lateral Ventricles / Q000473:pathology; D008068:Lipomatosis / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D008548:Melanosis / Q000150:complications*; D020752:Neurocutaneous Syndromes / Q000150:complications*
keywords: choroid plexus papilloma; encephalocraniocutaneous lipomatosis; giant nevus; melanocytic; neurocutaneous melanosis