Viviana Frantellizzi*, Mariano Pontico , Arianna Pani , Maria Silvia De Feo and Giuseppe De Vincentis Pages 78 - 83 ( 6 )
Background: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. Neuroimaging findings are commonly considered rather non-specific. To date, no neuroreceptorial brain imaging with 123I-FP-CIT(DaTScan) is known in subjects with SSADH deficiency.
Methods: A 30-year-old man gained our attention to rule out any potential nigrostriatal dopaminergic presynaptic pathway alterations in a clinical context of a γ-hydroxybutyric aciduria. He showed impossibility to the autonomous gait, head and trunk retropulsion, lower limbs strength deficit, verbal and upper limbs motor stereotypies and irregular eye tracking.
Results: His brain MRI depicted basal ganglia signal abnormalities. Brain SPECT with DaTSCan images showed a global significant reduction of radiotracer uptake.
Conclusions: The findings obtained by means of the 123I-DaTScan brain SPECT may give rise to new concerns on pathophysiological aspects of the SSADH deficiency disorder that has never been investigated before, such as the nigrostriatal dopaminergic system’s functionality, encouraging further investigation.
SSADH deficiency, γ-hydroxybutyric aciduria, neuroreceptorial imaging, 123I-FP-CIT SPECT, DaTScan, presynaptic dopaminergic system.
Department of Molecular Medicine, Sapienza University of Rome, Rome, PhD. Program in Morphogenesis & Tissue Engineering, Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Rome, Postgraduate School of Clinical Pharmacology and Toxicology, University of Milan “Statale”, Milan, Department of Radiological Sciences, Oncology and Anatomical Pathology , Sapienza University of Rome, Rome, Department of Radiological Sciences, Oncology and Anatomical Pathology , Sapienza University of Rome, Rome