Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome?
We present the clinical, neurophysiological and radiographic findings in a boy with coexisting multiple pterygium syndrome, bilateral periventricular nodular heterotopia (BPNH), mental retardation and epileptic seizures. This constellation has not been previously reported. We discuss the possibility of a new BPNH syndrome associated with multiple pterygium syndrome in our patient.
Holtmann
M
M
Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Mannheim, Germany. martinholtmann@aol.com
Woermann
F G
FG
Boenigk
H E
HE
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002675:Child, Preschool; D002828:Choristoma / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D004550:Elbow / Q000002:abnormalities; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007717:Knee / Q000002:abnormalities; D008279:Magnetic Resonance Imaging; D008297:Male; D009474:Neurons; D011625:Pterygium / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014960:X Chromosome