We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review.
- Authors
Wang, Kevin; Barker, Peter; Lin, Doris
- Abstract
Background: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder of γ-aminobutyric acid metabolism, leading to elevated levels of γ-aminobutyric acid and γ-hydroxybutyric acid in cerebrospinal fluid. Patient: We describe the neuroimaging findings of a previously healthy 6-month-old girl with acute onset of lethargy, hypotonia, and choreiform movements, and a subsequent diagnosis of SSADH deficiency. Magnetic resonance (MR) imaging of the brain revealed symmetric T hyperintense signal abnormalities and reduced diffusivity of the globus pallidi bilaterally. Arterial spin-labeling perfusion MR imaging suggested bilateral hyperperfusion of the globus pallidi. MR spectroscopy of the thalamus and frontal lobe white matter revealed increased signal intensity in the glutamate and glutamine region of the spectra between 2.1 and 2.4 ppm. Conclusion: The unique early imaging findings described here may be attributable to bioenergetic failure and deficiency in mitochondrial energy metabolism and are consistent with SSADH-knockout mice studies.
- Subjects
SUCCINATE dehydrogenase; FRONTAL lobe diseases; ENERGY metabolism in children; BRAIN imaging; CEREBROSPINAL fluid
- Publication
Child's Nervous System, 2016, Vol 32, Issue 7, p1305
- ISSN
0256-7040
- Publication type
Article
- DOI
10.1007/s00381-015-2942-9