Acute hydrocephalus in nonketotic hyperglycinemia

JLK Van Hove, PS Kishnani, P Demaerel, SG Kahler… - Neurology, 2000 - AAN Enterprises
JLK Van Hove, PS Kishnani, P Demaerel, SG Kahler, C Miller, J Jaeken, SL Rutledge
Neurology, 2000AAN Enterprises
Article abstract We present four patients with typical neonatal onset nonketotic
hyperglycinemia (NKH) who developed hydrocephalus requiring shunting in early infancy.
Brain imaging revealed acute hydrocephalus, a megacisterna magna or posterior fossa cyst,
pronounced atrophy of the white matter, and an extremely thin corpus callosum in all. The
three older patients had profound developmental disabilities. This suggests that the
development of hydrocephalus in NKH is an additional poor prognostic sign.
Article abstract We present four patients with typical neonatal onset nonketotic hyperglycinemia (NKH) who developed hydrocephalus requiring shunting in early infancy. Brain imaging revealed acute hydrocephalus, a megacisterna magna or posterior fossa cyst, pronounced atrophy of the white matter, and an extremely thin corpus callosum in all. The three older patients had profound developmental disabilities. This suggests that the development of hydrocephalus in NKH is an additional poor prognostic sign.
American Academy of Neurology