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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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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. |
format | Online Article Text |
id | pubmed-7409703 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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