Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome

: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3‐year‐old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infant...

Full description

Saved in:
Bibliographic Details
Published in:Journal of paediatrics and child health 2000-12, Vol.36 (6), p.603-605
Main Authors: Amor, D J, Kornberg, A J, Smith, L J
Format: Article
Language:English
Subjects:
Biological and medical sciences
Brain - abnormalities
Calcinosis
Cerebral Cortex - pathology
cortical dysgenesis
Dermatology
Dermoid Cyst
encephalocraniocutaneous lipomatosis
Eye Diseases
Fishman syndrome
Humans
Infant
Lipomatosis
Magnetic Resonance Imaging
Male
Medical sciences
naevus psiloparus
Nervous system involvement in other diseases. Miscellaneous
neurocutaneous syndromes
Neurology
Scalp
Seizures
Syndrome
Tropical medicine
Tumors of the skin and soft tissue. Premalignant lesions
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3‐year‐old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.
ISSN:1034-4810
1440-1754
DOI:10.1046/j.1440-1754.2000.00541.x