Ethylmalonic encephalopathy: Further clinical and neuroradiological characterization

Salvatore Grosso, Rosa Mostardini, Maria Angela Farnetani, Massimo Molinelli, Rosario Berardi, Carlo Dionisi-Vici, Cristiano Rizzo, Guido Morgese, Paolo Balestri

Research output: Contribution to journalArticlepeer-review


Ethylmalonic encephalopathy (EE) is a rare metabolic disorder with an autosomal recessive mode of inheritance that is clinically characterized by neuromotor delay, hyperlactic acidemia, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. Increased urinary levels of ethylmalonic acid and methyl-succinic acid are the main biochemical features of the disorder. We report on two patients affected by EE who showed different clinical and neuroradiological patterns. Patient 1 presented with a chronic clinical course characterized by very slow neuromotor deterioration, ataxia, and dysarthria. In contrast, patient 2 had an acute neonatal onset with severe neuromotor retardation, severe generalized hypotonia, and intractable seizures. Neuroradiological follow-up of patient 1 detected a diffuse hyperintensity on the T2 images at the basal ganglia which remained stable during a period of four years. Patient 2, in contrast, showed a rapid process of cerebral, and in part, cerebellar atrophy. On the basis of our observations, we reviewed the data published in the literature and tried to delineate the natural history of EE, which appears to be characterized by a wide spectrum of severity in the clinical course. No reports on neuroradiological follow-up of EE patients are available in the literature with which to compare our data. Finally, both patients showed a muscle COX deficiency. The pathogenetic implications of such a biochemical finding will be also discussed.

Original languageEnglish
Pages (from-to)1446-1450
Number of pages5
JournalJournal of Neurology
Issue number10
Publication statusPublished - 2002


  • Ethylmalonic aciduria
  • Ethylmalonic encephalopathy
  • MRI
  • Neurometabolic disease
  • SCAD deficiency

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


Dive into the research topics of 'Ethylmalonic encephalopathy: Further clinical and neuroradiological characterization'. Together they form a unique fingerprint.

Cite this