Conradi–Hünermann–Happle syndrome associated with severe hypocalcemia in a newborn

Dykman, Morgan; Voller, Lindsey Marie; Boull, Christina

doi:10.1111/pde.14979

Cited by 2 publications

(1 citation statement)

References 3 publications

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“…CHHS results from a mutation in the emopamil-binding protein (EBP) gene and subsequent defective cholesterol biosynthesis [ 21 ] leading to the accumulation of cholesterol precursors such as 8-dehydrocholesterol and 8(9)-cholestenol in the plasma, [ 22 , 23 ] which serves as a diagnostic marker. The clinical phenotype in CHHS results directly from impairment in cholesterol biosynthesis, and indirectly from abnormalities in the hedgehog signalling protein pathways [ 24 ].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2023

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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.

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