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

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.

Key words

D-Glyceric Aciduria - West Syndrome - Autistic Behaviour - MRI Findings

References

• 1 Bonham J R, Stephenson T J, Carpenter K H, Rattenbury J M, Cromby C H, Pollitt R T. et al . D(+)-Glyceric aciduria: Etiology and clinical consequences.  Pediatr Res. 1990;  28 38-41
• 2 Brandt N J, Rasmussen K, Brandt S, Kolvraa S, Schonheyder F. D-Glyceric-acidaemia and non-ketotic hyperglycinaemia: clinical and laboratory findings in a new syndrome.  Acta Pediatr Scand. 1976;  65 17-22
• 3 Brismar J, Ozand P T. CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients.  Brain Dev. 1994;  16 (Suppl) 104-124
• 4 Duran M, Beemer F A, Bruinvis L, Ketting D, Wadman S K. D-Glyceric acidemia: an inborn error associated with fructose metabolism.  Pediatr Res. 1987;  21 502-506
• 5 Fontaine M, Porchet N, Largillière C, Marraakchi S, Lhermitte M, Aubert J P. et al . Biochemical contribution to diagnosis of a new case of D-glyceric acidemia/aciduria.  Clin Chem. 1989;  35 2148-2151
• 6 Kalayci O, Coskun T, Tokatli A, Demir E, Erdem G, Gungor C. et al . Infantile spasms as the initial symptom of biotinidase deficiency.  J Pediatr. 1994;  124 103-104
• 7 Kolvraa S, Rasmussen K, Brandt N J. D-Glyceric acidemia: biochemical studies of a new syndrome.  Pediatr Res. 1976;  10 825-830
• 8 Konishi Y, Yasujima M, Kuriyama M, Konishi K, Hayakawa K, Fujii Y. et al . Magnetic resonance imaging in infantile spasms: Effects of hormonal therapy.  Epilepsia. 1992;  33 304-309
• 9 Largillière C, Van Schaftingen E, Fontaine M, Farriaux J P. D-Glyceric acidemia: clinical report and biochemical studies in a patient.  J Inher Metab Dis. 1991;  14 263-264
• 10 Van Bogaert P, Chiron C, Adamsbaum C, Robain C, Diebler C, Dulac O. Value of magnetic resonance imaging in West syndrome of unknown etiology.  Epilepsia. 1993;  34 701-706
• 11 Van Schaftingen E. D-Glycerate kinase deficiency as a cause of D-Glyceric aciduria.  FEBS Lett. 1989;  243 127-131
• 12 Watanabe K. West syndrome: etiological and prognostic aspects.  Brain Dev. 1998;  20 1-8