A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review

Research output: Contribution to journalArticle


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 T2 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.

Original languageEnglish (US)
Pages (from-to)1305-1309
Number of pages5
JournalChild's Nervous System
Issue number7
StatePublished - Jul 1 2016



  • 4-Hydroxybutyric aciduria
  • Diffusion-weighted imaging
  • Magnetic resonance imaging
  • Magnetic resonance spectroscopy
  • Perfusion-weighted imaging
  • Succinic semialdehyde dehydrogenase deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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