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

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...

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Autores principales: Phakey, Sachin, Rego, Thomas, Gaillard, Frank, Panetta, Julie, Evans, Andrew, De Jong, Gerard, Walterfang, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7409703/
https://www.ncbi.nlm.nih.gov/pubmed/32758201
http://dx.doi.org/10.1186/s12888-020-02794-8
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author Phakey, Sachin
Rego, Thomas
Gaillard, Frank
Panetta, Julie
Evans, Andrew
De Jong, Gerard
Walterfang, Mark
author_facet Phakey, Sachin
Rego, Thomas
Gaillard, Frank
Panetta, Julie
Evans, Andrew
De Jong, Gerard
Walterfang, Mark
author_sort Phakey, Sachin
collection PubMed
description 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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spelling pubmed-74097032020-08-10 OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report Phakey, Sachin Rego, Thomas Gaillard, Frank Panetta, Julie Evans, Andrew De Jong, Gerard Walterfang, Mark BMC Psychiatry Case Report 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. BioMed Central 2020-08-05 /pmc/articles/PMC7409703/ /pubmed/32758201 http://dx.doi.org/10.1186/s12888-020-02794-8 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Phakey, Sachin
Rego, Thomas
Gaillard, Frank
Panetta, Julie
Evans, Andrew
De Jong, Gerard
Walterfang, Mark
OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report
title OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report
title_full OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report
title_fullStr OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report
title_full_unstemmed OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report
title_short OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report
title_sort ocd symptoms in succinic semialdehyde dehydrogenase (ssadh) deficiency: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7409703/
https://www.ncbi.nlm.nih.gov/pubmed/32758201
http://dx.doi.org/10.1186/s12888-020-02794-8
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