Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome.
We describe an 18-year-old boy with a frontofacial syndrome. The presence of severe epilepsy led to a neuroimaging investigation, which revealed a diffuse pachygyric (normal thickness and simplified folding) cortex that was bilateral and affected all supratentorial regions, sparing the medial and inferior aspects of the frontal lobe plus the posterior occipital region. In addition, an unusual skull base presentation with small posterior fossa, narrowed foramen magnum, and low torcular and tentorial insertions was documented. Dysmorphic ventricles and enlarged cavi of the septi pellucidum, vergae, and velum interpositum were also noted. This case shares many similarities with two patients formerly described by Fryns and Aftimos, who were previously classified as having mental retardation and multiple congenital anomalies syndrome. The existence of a new case corroborates the idea of a distinct condition with particular characteristic dysmorphic facial features and the presence of a specific malformation of cortical development associated with severe epilepsy. We believe that epilepsy and pachygyria play a central role in distinguishing this syndrome from others classified as frontofacial or cerebrofrontofacial syndromes, and we propose the term "Fryns-Aftimos syndrome" to name it.
Valente
Kette D
KD
Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of São Paulo Medical School, Brazil. kettevalente@msn.com
de Vincentiis
Silvia
S
Thomé-Souza
Sigride
S
Valente
Marcelo
M
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D002540:Cerebral Cortex / Q000002:abnormalities*; D004827:Epilepsy / Q000473:pathology*; D019066:Facies; D006801:Humans; D008297:Male; D013577:Syndrome