Subcortical band heterotopia with simplified gyral pattern and syndactyly.
We describe a girl with an unusual form of subcortical band heterotopia (SBH) and a complex malformation syndrome. SBH had an irregular inner margin, organized in contiguous fascicles of migrating neurons, sometimes giving the appearance of many small contiguous gyri. The true cortex had decreased thickness and showed a simplified gyral pattern with decreased number of gyri, which were usually of increased width, and shallow sulci. The cerebellum was hypoplastic. Additional features included epicanthal folds, hypertelorism, small nose with hypoplastic nares, bilateral syndactyly of the toes, pulmonary valve stenosis, atrial and ventricular septal defects. At the age of 1 year the patient had severe developmental delay and epilepsy. Chromosome studies and mutation analysis of the DCX and LIS1 genes gave negative results. This observation delineates a new multiple congenital abnormalities mental retardation syndrome and confirms genetic heterogeneity of SBH.
Sicca
Federico
F
Division of Child Neurology and Psychiatry, University of Pisa, Pisa, Italy.
Silengo
Margherita
M
Parrini
Elena
E
Ferrero
Giovanni B
GB
Guerrini
Renzo
R
D001921:Brain / Q000000981:diagnostic imaging; D001927:Brain Diseases / Q000235:genetics / Q000503:physiopathology*; D002540:Cerebral Cortex / Q000002:abnormalities*; D002828:Choristoma / Q000235:genetics / Q000503:physiopathology*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D011859:Radiography; D013576:Syndactyly / Q000235:genetics / Q000503:physiopathology*