Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.
We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description.
Zannolli
R
R
Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it
Buoni
S
S
Macucci
F
F
Miracco
C
C
de Santi
M M
MM
Piomboni
P
P
Bruni
E
E
Malandrini
A
A
Galluzzi
P
P
Hadjistilianou
T
T
Medaglini
S
S
Mazzei
M A
MA
Sacco
P
P
Terrosi-Vagnoli
P
P
Volterrani
L
L
Molinelli
M
M
Burlina
A B
AB
Swift
J A
JA
Fimiani
M
M
D000328:Adult; D001763:Blepharoptosis / Q000150:complications; D001851:Bone Diseases, Metabolic / Q000150:complications; D001921:Brain / Q000000981:diagnostic imaging; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D004827:Epilepsy / Q000150:complications / Q000503:physiopathology*; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D008607:Intellectual Disability / Q000150:complications; D008279:Magnetic Resonance Imaging; D009216:Myopia / Q000150:complications; D011859:Radiography; D012867:Skin / Q000473:pathology; D013131:Spine / Q000000981:diagnostic imaging