TY - JOUR
T1 - Ethylmalonic encephalopathy
T2 - Further clinical and neuroradiological characterization
AU - Grosso, Salvatore
AU - Mostardini, Rosa
AU - Farnetani, Maria Angela
AU - Molinelli, Massimo
AU - Berardi, Rosario
AU - Dionisi-Vici, Carlo
AU - Rizzo, Cristiano
AU - Morgese, Guido
AU - Balestri, Paolo
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
KW - Ethylmalonic aciduria
KW - Ethylmalonic encephalopathy
KW - MRI
KW - Neurometabolic disease
KW - SCAD deficiency
UR - http://www.scopus.com/inward/record.url?scp=0036407341&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036407341&partnerID=8YFLogxK
U2 - 10.1007/s00415-002-0880-4
DO - 10.1007/s00415-002-0880-4
M3 - Article
C2 - 12382164
AN - SCOPUS:0036407341
VL - 249
SP - 1446
EP - 1450
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 10
ER -