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BMC Psychiatry
Published in: BMC Psychiatry 1/2020

Open Access 01-12-2020 | Obsessive-Compulsive Disorder | Case report

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

Authors: Sachin Phakey, Thomas Rego, Frank Gaillard, Julie Panetta, Andrew Evans, Gerard De Jong, Mark Walterfang

Published in: BMC Psychiatry | Issue 1/2020

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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.
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Metadata
Title
OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report
Authors
Sachin Phakey
Thomas Rego
Frank Gaillard
Julie Panetta
Andrew Evans
Gerard De Jong
Mark Walterfang
Publication date
01-12-2020
Publisher
BioMed Central
Published in
BMC Psychiatry / Issue 1/2020
Electronic ISSN: 1471-244X
DOI
https://doi.org/10.1186/s12888-020-02794-8

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