Nonketotic hyperglycinemia and acquired hydrocephalus

Pediatric Neurology
Uluc YisEray Dirik

Abstract

Nonketotic hyperglycinemia is an autosomal recessive disorder of glycine metabolism. Patients generally present in the neonatal period with lethargy, feeding difficulty, hypotonia, apnea, poorly controlled convulsions, and coma. Myoclonic seizures and burst suppression pattern on electroencephalography are major findings of disease, but development of hydrocephalus is not an expected finding. The present case is that of an infant with acquired hydrocephalus, psychomotor retardation, and myoclonic seizures in whom the final diagnosis was nonketotic hyperglycinemia.

Citations

Oct 13, 2001·Brain Research. Molecular Brain Research·Y SakataS Kure
Oct 18, 2011·Journal of Inherited Metabolic Disease·Julia B HennermannJohan L K Van Hove
Apr 16, 2014·Pediatric Neurology·J Nicholas Brenton, Robert S Rust
Mar 18, 2011·Molecular Genetics and Metabolism·Catherine Brunel-GuittonSaadet Mercimek-Mahmutoglu
Feb 10, 2019·Journal of Inherited Metabolic Disease·Nicholas V StenceJohan L K Van Hove
Aug 23, 2019·The Neurodiagnostic Journal·Rajesh P PoothrikovilFathiya Al Murshidi

❮ Previous
Next ❯

Related Concepts

Related Feeds

Brain developing: Influences & Outcomes

This feed focuses on influences that affect the developing brain including genetics, fetal development, prenatal care, and gene-environment interactions. Here is the latest research in this field.

CSF & Lymphatic System

This feed focuses on Cerebral Spinal Fluid (CSF) and the lymphatic system. Discover the latest papers using imaging techniques to track CSF outflow into the lymphatic system in animal models.