科妮莉亚·德·朗格综合征和埃勒斯-当洛综合征：两种罕见综合征的共病情况
Cornelia de Lange and Ehlers-Danlos: comorbidity of two rare syndromes.
作者信息
Cravero Cora, Guinchat Vincent, Barete Stéphane, Consoli Angèle
机构信息
Department of Child and Adolescent Psychiatry, Reference Centre for Rare Psychiatric Diseases, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie, Paris, France.
Unit of Dermatology, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie, Paris, France.
出版信息
BMJ Case Rep. 2016 Feb 1;2016:bcr2015210925. doi: 10.1136/bcr-2015-210925.
Abstract
We present a case of a young adult with both Cornelia de Lange syndrome and Ehlers-Danlos syndrome. The patient showed non-verbal autism, intellectual disability and severe/intractable self-harming behaviours that led to a life-threatening complication (ie, septicaemia). A significant reduction in the self-harming behaviours was attained in a multidisciplinary neurobehavioural inpatient unit after addressing all causes of somatic pains, managing pain using level II and III analgesics, stabilising the patient's mood, limiting the iatrogenic effects of multiple prescriptions and offering a specific psychoeducational approach.
摘要
我们报告了一例同时患有科妮莉亚·德·朗格综合征和埃勒斯-当洛综合征的年轻成年人病例。该患者表现出非言语性自闭症、智力障碍以及严重/难以控制的自我伤害行为，这些行为导致了危及生命的并发症（即败血症）。在多学科神经行为住院单元中，通过解决所有躯体疼痛的原因、使用二级和三级镇痛药控制疼痛、稳定患者情绪、限制多种处方的医源性影响并提供特定的心理教育方法后，自我伤害行为显著减少。
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