Conradi-Hünerman-Happle Syndrome and Obsessive-Compulsive Disorder: a clinical case report

• Published in: BMC psychiatry 2023-02, Vol.23 (1), p.87-87, Article 87
• Main Authors: de Jesus, Sabrina, Costa, Ana Lúcia R, Almeida, Mónica, Garrido, Paula, Alcafache, João
• Format: Article
• Language: English
• Subjects: Antipsychotic drugs; Antipsychotics; Anxiety; Care and treatment; Case Report; Case reports; Causes of; Child; Chondrodysplasia Punctata; Chondrodystrophy; Coexistence; Comorbidity; Complications and side effects; Compulsive Behavior - psychology; Coronaviruses; COVID-19; Diagnosis; Dosage and administration; Etiology; Fear & phobias; Female; Humans; Hygiene; Mental disorders; Morbidity; Obsessive compulsive disorder; Obsessive-Compulsive Disorder - complications; Obsessive-Compulsive Disorder - diagnosis; Obsessive-Compulsive Disorder - epidemiology; Orthopedics; Pandemics; Pathophysiology; Patients; Psychiatry; Psychological aspects; Quality of life; Rare disease; Serotonin uptake inhibitors; Skin
• ISSN: 1471-244X; 1471-244X
• DOI: 10.1186/s12888-023-04579-1

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. 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. 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.