M Pavanello, L Piro, A Roggero, A Rossi… - Child's Nervous …, 2024 - Springer
Introduction Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and …
A Bavle, R Shah, N Gross, T Gavula… - Journal of Pediatric …, 2018 - journals.lww.com
A 5-year-old boy presented with worsening headaches for 3 months. On examination, he was found to have a hairless fatty tissue nevus of the scalp (nevus psiloliparus) …
Purpose Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous disorder. It was described by Haberland in 1970 and is also called …
A Mir, T Jallul, F Alotaibi, F Amer, A Najjar… - Epilepsia …, 2023 - Wiley Online Library
Objective Epilepsy surgery is widely accepted as an effective therapeutic option for carefully selected patients with drug‐resistant epilepsy (DRE). There is limited data on the outcome of …
To the Editor.—I was surprised to read in the report by Macri et al (236: 1251, 1976) that they were aware of no prospectively prenatally diagnosed cases of open neural tube defects …
Ç Damar, A Yaman, M Ali İkidağ, E Pekpak, A Olgaç - Pediatr Int, 2017 - researchgate.net
Discussion Encephalocraniocutaneous lipomatosis affects different systems including the eyes, CNS, skin and others, which are derived from the neural crest and mesoderm. There …
DL Van Dyke, A Milunsky - Genetic Disorders and the Fetus …, 2015 - Wiley Online Library
Analysis of the chemical constituents of amniotic fluid (AF) has yielded valuable information for prenatal diagnosis, allowing assessment of fetal physiology and metabolism. Because …
ML Levy, C Massey - Handbook of Clinical Neurology, 2015 - Elsevier
Encephalocraniocutaneous lipomatosis (ECCL) is an unusual condition marked by characteristic dermatologic and neurologic findings presenting in a mosaic fashion. These …