Purpose: Elaborate a simple Magnetic Resonance Imaging (MRI)-based score to define Incomplete Hippocampal Inversion (IHI) in children (Phase 1), and evaluate the relation of IHI with (A) epilepsy, (B) seizure localization and (C) therapeutic response in a paediatric population (Phase 2).
Methods: In Phase 1, incompletely inverted hippocampi were matched to completely inverted hippocampi. Multiple qualitative and quantitative hippocampal and extra-hippocampal features were evaluated in coronal-oblique T1-weighted (T1W) and coronal T2-weighted (T2W) images.
Delleman-Oorthuys or oculocerebrocutaneous syndrome (OCCS) is an extremely rare condition which relies on three pillars of manifestations: ophthalmological, neurological, and dermatological. It was first described by Delleman and Oorthuys in 1981, and since then, very few other cases have been reported. We report the case of a 13-month-old boy, referred to an ophthalmological tertiary service for investigation of a microglobe with a cystic retrobulbar mass on translucency test.
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