Imaging studies of the central nervous system (CNS) can be helpful in evaluating a patient with glycine encephalopathy (nonketotic hyperglycinemia). Some findings are present in the neonatal period while others may appear later. More severe CNS changes are indicative of a poor prognosis.

Imaging studies may show:

(1) microcephaly or macrocephaly

(2) hypoplasia or aplasia/agenesis of the corpus callosum

(3) abnormal gyri (pachygyria, macrogyria)

(4) hydrocephalus and/or enlarged ventricles

(5) abnormalities of myelinated white matter and internal capsule on diffusion-weighted MRI

(6) brain atrophy

(7) cerebellar hypoplasia

(8) focal cerebral necrosis

(9) cyst in the posterior fossa


Magnetic resonance spectroscopy can demonstate elevated cerebral glycine levels.

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