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Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report
BACKGROUND: Obsessive–Compulsive Disorder (OCD) is a common and chronic psychiatric disorder with significant morbidity characterized by intrusive, uncontrollable and reoccurring thoughts (i.e., obsessions) and/or ritualistic behaviours (i.e., compulsions). Conradi-Hünerman-Happle Syndrome (CHHS) is...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900547/ https://www.ncbi.nlm.nih.gov/pubmed/36747187 http://dx.doi.org/10.1186/s12888-023-04579-1 |
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author | de Jesus, Sabrina Costa, Ana Lúcia R. Almeida, Mónica Garrido, Paula Alcafache, João |
author_facet | de Jesus, Sabrina Costa, Ana Lúcia R. Almeida, Mónica Garrido, Paula Alcafache, João |
author_sort | de Jesus, Sabrina |
collection | PubMed |
description | BACKGROUND: Obsessive–Compulsive Disorder (OCD) is a common and chronic psychiatric disorder with significant morbidity characterized by intrusive, uncontrollable and reoccurring thoughts (i.e., obsessions) and/or ritualistic behaviours (i.e., compulsions). Conradi-Hünerman-Happle Syndrome (CHHS) is a rare inherited X-linked dominant variant of chondrodysplasia punctata, a heterogeneous group of rare bone dysplasias characterized by punctate epiphyseal calcifications of complex etiology and pathophysiology that remain to be defined. Available literature reveals a lacuna in regards to the coexistence of the entities with no clinical reports described. CASE PRESENTATION: A 12 year old female patient with diagnosis of CHHS, presents to psychiatric consultation due to aggravation of her OCD clinical picture, with aggravation of hand-washing frequency during the Covid-19 pandemic with significant functional impact. Psychopharmacological treatment aimed at OCD with Selective Serotonin Reuptake Inhibitor (SSRI) and antipsychotic was instituted with favourable, albeit partial response. CONCLUSIONS: The authors aim to describe a clinical case in which the patient presents with Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder. Clinical descriptions of CHHS and OCD are not available in the literature. Through this case description the authors aim to present a rare case as well as discuss an eventual association between etiology and/or pathophysiology of the two disorders. |
format | Online Article Text |
id | pubmed-9900547 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-99005472023-02-06 Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report de Jesus, Sabrina Costa, Ana Lúcia R. Almeida, Mónica Garrido, Paula Alcafache, João BMC Psychiatry Case Report BACKGROUND: Obsessive–Compulsive Disorder (OCD) is a common and chronic psychiatric disorder with significant morbidity characterized by intrusive, uncontrollable and reoccurring thoughts (i.e., obsessions) and/or ritualistic behaviours (i.e., compulsions). Conradi-Hünerman-Happle Syndrome (CHHS) is a rare inherited X-linked dominant variant of chondrodysplasia punctata, a heterogeneous group of rare bone dysplasias characterized by punctate epiphyseal calcifications of complex etiology and pathophysiology that remain to be defined. Available literature reveals a lacuna in regards to the coexistence of the entities with no clinical reports described. CASE PRESENTATION: A 12 year old female patient with diagnosis of CHHS, presents to psychiatric consultation due to aggravation of her OCD clinical picture, with aggravation of hand-washing frequency during the Covid-19 pandemic with significant functional impact. Psychopharmacological treatment aimed at OCD with Selective Serotonin Reuptake Inhibitor (SSRI) and antipsychotic was instituted with favourable, albeit partial response. CONCLUSIONS: The authors aim to describe a clinical case in which the patient presents with Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder. Clinical descriptions of CHHS and OCD are not available in the literature. Through this case description the authors aim to present a rare case as well as discuss an eventual association between etiology and/or pathophysiology of the two disorders. BioMed Central 2023-02-06 /pmc/articles/PMC9900547/ /pubmed/36747187 http://dx.doi.org/10.1186/s12888-023-04579-1 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://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 de Jesus, Sabrina Costa, Ana Lúcia R. Almeida, Mónica Garrido, Paula Alcafache, João Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report |
title | Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report |
title_full | Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report |
title_fullStr | Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report |
title_full_unstemmed | Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report |
title_short | Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report |
title_sort | conradi-hünerman-happle syndrome and obsessive–compulsive disorder: a clinical case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900547/ https://www.ncbi.nlm.nih.gov/pubmed/36747187 http://dx.doi.org/10.1186/s12888-023-04579-1 |
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