Abstract
Hemimegalencephaly (HME) is a rare congenital malformation of the brain, grossly characterized
by enlargement and overdevelopment of one cerebral hemisphere. We describe a 16-month-old
patient with facial asymmetry caused by congenital infiltrating lipomatosis of the
face (CILF) associated with ipsilateral HME. Although HME has been described as part
of different syndromic diseases, the association of HME with CILF has been rarely
reported. Our case and literature review suggest that when the diagnosis of CILF is
suspected or established, the possible presence of associated HME has to be considered
and a magnetic resonance imaging (MRI) must be performed even in absence of neurological
features, not always present in early stages. MRI also demonstrates the involvement
of intracranial structures outside the affected cerebral hemisphere, such as brain
stem, cerebellum, cranial nerves, and blood vessels. In our patient, computed tomography
of the brain provided detailed information on osseous hypertrophy and skull-base foramina
enlargement.
Keywords
hemimegalencephaly - congenital infiltrating lipomatosis of the face - brain malformation
- cortical development
