pubmed.ncbi.nlm.nih.gov

OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report - PubMed

  • ️Wed Jan 01 2020

Case Reports

OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report

Sachin Phakey et al. BMC Psychiatry. 2020.

Abstract

Background: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder resulting in a heterogeneous clinical phenotype. Adolescent and adult patients with SSADH deficiency may present with OCD symptoms. There is minimal literature regarding the pathological basis of OCD symptoms and their management amongst SSADH deficiency patients.

Case presentation: A 26-year-old woman with SSADH deficiency experienced obsessional slowness and hesitancy in her activities of daily living, with motor rituals and stereotypies of her hands and face. Neuroimaging revealed T2 hyperintensities of the globi pallidi bilaterally. Commencement of the serotonergic escitalopram moderately improved her OCD symptoms. The addition of the dopaminergic pramipexole hydrochloride yielded further improvement, following unsuccessful trial of other adjuncts: risperidone, methylphenidate and mirtazapine.

Conclusions: Pallidal pathology may explain the manifestation of OCD symptoms amongst individuals with SSADH deficiency. Serotonergic and concomitant dopaminergic therapy may be a viable treatment regimen for SSADH deficiency patients presenting with OCD symptoms.

Keywords: Case report; Metabolic disorders; Neuropsychiatry; Obsessive-compulsive; SSADH deficiency.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1

Oblique axial FLAIR image demonstrating increased T2 signal in the pars interna and externa of the globi pallidi (solid arrow heads), substantiae nigrae (open arrow heads) and dentate nuclei (arrows)

Fig. 2
Fig. 2

Neural circuit. Lateral orbitofrontal loop, projecting from the orbitofrontal cortex (OFC) via the ventromedial caudate and substantia nigra (SN) to the globus pallidus (GP), then thalamus (Th.), and back to the OFC

Similar articles

Cited by

References

    1. Jakobs C, Jaeken J, Gibson KM. Inherited disorders of GABA metabolism. J Inherit Metab Dis. 1993;16(4):704–715. doi: 10.1007/BF00711902. - DOI - PubMed
    1. Gibson KM, Gupta M, Pearl PL, Tuchman M, Vezina LG, Snead OC, et al. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-Hydroxybutyric aciduria) Biol Psychiatry. 2003;54(7):763–768. doi: 10.1016/S0006-3223(03)00113-6. - DOI - PubMed
    1. Pearl PL, Gibson KM, Cortez MA, Wu Y, Snead OC, Knerr I, et al. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009;32(3):343–352. doi: 10.1007/s10545-009-1034-y. - DOI - PMC - PubMed
    1. Gibson KM, Sweetman L, Nyhan WL, Jakobs C, Rating D, Siemes H, et al. Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. Clin Chim Acta. 1983;133(1):33–42. doi: 10.1016/0009-8981(83)90018-9. - DOI - PubMed
    1. Pearl PL, Gibson KM, Acosta MT, Vezina LG, Theodore WH, Rogawski MA, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003;60(9):1413–1417. doi: 10.1212/01.WNL.0000059549.70717.80. - DOI - PubMed

Publication types

MeSH terms

Substances

Supplementary concepts