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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Arq. Neuro-Psiquiatr. vol.73 no.10 São Paulo Oct. 2015 


Brain MRI features in late-onset nonketotic hyperglycinemia

Achados de RM de crânio na hiperglicinemia não-cetótica de início tardio

Wladimir Bocca Vieira de Rezende Pinto1 

Paulo Victor Sgobbi de Souza1 

Adrialdo José Santos1 

1Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Sao Paulo SP, Brazil

A 22-year-old woman presented with learning disability and gait unsteadiness since adolescence. Medical history revealed episodes of encephalopathy and myoclonic jerks associated with intercurrent infections. Examination showed spastic paraparesis, ataxia and optic atrophy. Neuroimaging revealed agenesis of corpus callosum (Figure). Plasma amino acid analysis disclosed elevated glycine levels with an increased cerebrospinal fluid:plasma glycine ratio.

Figure Neuroimaging findings in nonketotic hyperglycinemia. Sagittal and axial brain MR images disclosing nearly complete corpus callosum agenesis (sparing only a small portion of the genu) and interhemispheric connection by posterior commissure (white arrow) in T1-weighted (A, B), T2-weighted (C) and FLAIR (D) sequences. Putamina, anterior commissure and hemispheric supratentorial white matter are also thin. 

Nonketotic hyperglycinemia (MIM #605899) is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage system with three different clinical forms: neonatal, infantile and late-onset with heterogeneous brain malformations, such as abnormal corpus callosum, gyral malformations and enlarged ventricles1,2.


. Hoover-Fong JE, Shah S, Van Hove JLK, Applegarth D, Toone J, Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology. 2004;63(10):1847-53. doi:10.1212/01.WNL.0000144270.83080.29 [ Links ]

.Dobyns WB. Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology. 1989;39(6):817-20. doi:10.1212/WNL.39.6.817 [ Links ]

Received: March 30, 2015; Revised: June 09, 2015; Accepted: June 29, 2015

Correspondence: Wladimir Bocca Vieira de Rezende Pinto; UNIFESP, Departamento de Neurologia e Neurocirurgia; Rua Pedro de Toledo, 650; 04023-900 São Paulo SP, Brasil; E-mail:

Conflict of interes: There is no conflict of interest to declare.

Authors disclosures: Dr. Pinto (WBVR) reports no disclosures. Dr. Souza (PVS) reports no disclosures. Dr. Santos (AJ) reports no disclosures.

Ethical statement: Full consent was obtained from the patient’s family for the case report. This study was approved by our Ethics Institution.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.