Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

J Child Neurol
Authors
Keywords
Abstract

ACO2 encodes aconitase 2, catalyzing the second step of the tricarboxylic acid. To date, there are only 6 reported families with 5 unique ACO2 mutations. Affected individuals can develop intellectual disability, epilepsy, brain atrophy, hypotonia, ataxia, optic atrophy, and retinal degeneration. Here, we report an 18-year-old boy with a novel ACO2 variant discovered on whole-exome sequencing. He presented with childhood-onset ataxia, impaired self-help skills comparable to severe-profound intellectual disability, intractable epilepsy, cerebellar atrophy, peripheral neuropathy, optic atrophy, and pigmentary retinopathy. His variant is the sixth unique ACO2 mutation. In addition, compared to mild cases (isolated optic atrophy) and severe cases (infantile death), our patient may be moderately affected, evident by increased survival and some preserved cognition (ability to speak full sentences and follow commands), which is a novel presentation. This case expands the disease spectrum to include increased survival with partly spared cognition.

Year of Publication
2017
Journal
J Child Neurol
Volume
32
Issue
9
Pages
840-845
Date Published
2017 Aug
ISSN
1708-8283
DOI
10.1177/0883073817711527
PubMed ID
28545339
PubMed Central ID
PMC5515684
Links
Grant list
T32 GM007748 / GM / NIGMS NIH HHS / United States
U54 HD090255 / HD / NICHD NIH HHS / United States