Hemihydranencephaly syndrome: case report and review.

Background: Hemihydranencephaly (HHDNC) is a rare disorder with complete or almost complete unilateral absence of cerebral cortex.

Methods: This study describes a 27 months-old girl presenting with developmental delay and generalized weakness more on the left side. Bilateral blindness was noted since the age of 6 months.

Results: Her fundus examination revealed bilateral optic atrophy, dilated tortuous retinal veins with increased intra-ocular tension. She had polyuria and recurrent attacks of dehydration due to neurogenic diabetes insipidus. Her blood protein S was deficient. Her magnetic resonance imaging (MRI) demonstrated HHDNC with nearly complete absence of the right cerebral hemisphere. Her MR-Arteriography demonstrated total occlusion of right middle and anterior cerebral arteries and attenuated and beaded right posterior cerebral artery. Diffusion tensor MR imaging revealed complete absence of right cortico-spinal and optic tracts with deficient left sided tracts.

Conclusion: In contrast to the good outcome of the few reported cases of HHDNC, this case had severe global disabilities.