An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant

Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylmalonic acid in urine. In this case report,...

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Published in:American journal of medical genetics. Part A 2023-06, Vol.191 (6), p.1614-1618
Main Authors: Kashima, Daniel T., Sloan‐Heggen, Christina M., Gottlieb‐Smith, Rachel J., Barone Pritchard, Amanda
Format: Article
Language:English
Subjects:
Brain - pathology
Brain Diseases - diagnosis
Brain Diseases - genetics
Brain Diseases - pathology
Brain Diseases, Metabolic, Inborn - diagnosis
Brain Diseases, Metabolic, Inborn - genetics
Diarrhea
Dystonia
Encephalopathy
ETHE1 gene
ethylmalonic acid
gross‐motor delay
Humans
Mitochondrial Proteins - genetics
Neuroimaging
Nucleocytoplasmic Transport Proteins - genetics
Purpura
Purpura - diagnosis
Purpura - genetics
speech delay
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Summary:Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylmalonic acid in urine. In this case report, we describe a patient with only mild speech and gross motor delays, subtle biochemical abnormalities, and normal brain imaging found to be homozygous for a pathogenic ETHE1 variant (c.586G>A) via whole exome sequencing. This case highlights the clinical heterogeneity of ETHE1 mutations and the utility of whole‐exome sequencing in diagnosing mild cases of EE.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.63176