D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour

Neuropediatrics
M TopcuT Coskun

Abstract

D-Glyceric aciduria is a disease with a very heterogeneous group of symptoms, with D-glyceric acid excretion as the chief common characteristic. Findings described in previous patients include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. However, there are also asymptomatic patients with mild neurological impairment. A six-month-old boy was admitted to our clinic with the complaints of dullness to his environment, seizures and autistic behaviour. EEG revealed multifocal generalized epileptic activity in a hypsarrhythmia pattern. Organic acid analysis (GC-MS) in urine revealed increased glyceric acid excretion. Analysis of the optical form of glyceric acid by a polarimetric method supported the diagnosis of D-glyceric aciduria. MRI showed white matter lesions with cerebral atrophy, particularly in the frontotemporal regions, and reversible abnormalities in the mesencephalon, thalami and globus pallidium resolving after fructose restriction in the diet. To our knowledge, this is the first case report of a patient with D-glyceric aciduria who presented with West syndrome and autistic behaviour in whom serial MRI findings are also defined.

Citations

Feb 26, 2010·Italian Journal of Pediatrics·Alberto Fois
Aug 28, 2014·Pediatric Neurology·Muhammad Talal AlrifaiMajid Alfadhel
Nov 26, 2013·Brain & Development·Piero PavoneMartino Ruggieri
Oct 16, 2010·Human Mutation·Jörn Oliver SassMelanie Walter
Jul 27, 2012·Journal of Child Neurology·Anastasia Gkampeta, Evangelos Pavlou
Aug 8, 2015·Anais Da Academia Brasileira De Ciências·Nádia W DimerGustavo C Ferreira
Jun 9, 2018·Epilepsia Open·Seda SalarAristea S Galanopoulou

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