Neuropediatrics 2002; 33(1): 47-50
DOI: 10.1055/s-2002-23600
Short Communication

Georg Thieme Verlag Stuttgart · New York

D-Glyceric Aciduria in a Six-Month-Old Boy Presenting with West Syndrome and Autistic Behaviour

M. Topcu1 , I. Saatci2 , G. Haliloglu1 , M. Kesimer3 , T. Coskun3
  • 1 Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey
  • 2 Department of Radiology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey
  • 3 Department of Pediatric Nutrition and Metabolism, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Further Information

Publication History

Publication Date:
03 April 2002 (online)

Abstract

D-Glyceric aciduria is a disease with a very heterogenous 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.

References

Prof. Dr. Meral Topcu

Department of Pediatric Neurology
Ihsan Dogramaci Children's Hospital
Hacettepe University School of Medicine

06100 Ankara

Turkey

Email: mtopcu@gen.hun.edu.tr