Abstract
We report on a 15-year-old boy with epilepsy and mental retardation who had been repeatedly
shunted since birth for hydrocephalus. This child showed at imaging an unusual, severe
and complex brain malformation consisting of distorted gyral patterns with deeply
infolded mantle in the parietal-lateral and posterior-temporal lobes, normal versus
dysplastic cortex, unseparated thalami, thin white matter, collapsed ventricles, partial
frontal corpus callosum agenesis, closely apposed superior and middle cerebral peduncles
with narrow fourth ventricle, continuity of posterior cerebellum hemispheric foliar
patterns across the midline, closely apposed cerebellar peduncles, asymmetrical hypogenesis
of the vermis and herniation of the cerebellar hemispheric pattern up through the
tentorial incisure. In addition, this boy had congenital skeletal and skin anomalies
including pre-axial hexadactyly with thumb duplication, wide bone occipital lacunae
(catlin mark) with partial occipital suture synostosis, cutis vertex rigirata and
a tuft of hair in the outer region of the right eyebrow. Several of these cerebral
and cerebellar abnormalities were suggestive of rhombencephalosynapsis. Nonetheless,
many of these brain abnormalities are also recorded in Chiari type 2 malformation
after operative shunting. To the best of our knowledge, however, this complex constellation
of nervous system, skeletal and skin abnormalities has not been previously reported.
Key words
Rhombencephalosynapsis - Chiari 2 - pre-axial polydactyly - thumb duplication - tuft
of hair
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MD, PhD Martino Ruggieri
Institute of Neurological Science (ISN)
National Research Council (CNR)
Viale R. Margherita 6
95125 Catania
Italy
eMail: m.ruggieri@isn.cnr.it
