Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report
Abstract 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 (...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-02-01
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| Series: | BMC Psychiatry |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12888-023-04579-1 |
| _version_ | 1811165754082459648 |
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| author | Sabrina de Jesus Ana Lúcia R. Costa Mónica Almeida Paula Garrido João Alcafache |
| author_facet | Sabrina de Jesus Ana Lúcia R. Costa Mónica Almeida Paula Garrido João Alcafache |
| author_sort | Sabrina de Jesus |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-10T15:41:43Z |
| format | Article |
| id | doaj.art-1c48ab77eb3e4f319bbbb6fd6e578f67 |
| institution | Directory Open Access Journal |
| issn | 1471-244X |
| language | English |
| last_indexed | 2024-04-10T15:41:43Z |
| publishDate | 2023-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Psychiatry |
| spelling | doaj.art-1c48ab77eb3e4f319bbbb6fd6e578f672023-02-12T12:19:00ZengBMCBMC Psychiatry1471-244X2023-02-012311510.1186/s12888-023-04579-1Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case reportSabrina de Jesus0Ana Lúcia R. Costa1Mónica Almeida2Paula Garrido3João Alcafache4Departament of Psychiatry and Mental Health, Baixo Vouga Hospital CenterDepartament of Psychiatry and Mental Health, Baixo Vouga Hospital CenterDepartament of Psychiatry and Mental Health, Baixo Vouga Hospital CenterDepartament of Psychiatry and Mental Health, Baixo Vouga Hospital CenterDepartament of Psychiatry and Mental Health, Baixo Vouga Hospital CenterAbstract 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.https://doi.org/10.1186/s12888-023-04579-1Chondrodysplasia punctataObsessive compulsive disorderComorbidityEtiologyRare disease |
| spellingShingle | Sabrina de Jesus Ana Lúcia R. Costa Mónica Almeida Paula Garrido João Alcafache Conradi-Hünerman-Happle Syndrome and Obsessive–Compulsive Disorder: a clinical case report BMC Psychiatry Chondrodysplasia punctata Obsessive compulsive disorder Comorbidity Etiology Rare disease |
| 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 hunerman happle syndrome and obsessive compulsive disorder a clinical case report |
| topic | Chondrodysplasia punctata Obsessive compulsive disorder Comorbidity Etiology Rare disease |
| url | https://doi.org/10.1186/s12888-023-04579-1 |
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