Journal article

OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report

Sachin Phakey, Thomas Rego, Frank Gaillard, Julie Panetta, Andrew Evans, Gerard De Jong, Mark Walterfang

BMC PSYCHIATRY | BMC | Published : 2020


BACKGROUND: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder resulting in a heterogeneous clinical phenotype. Adolescent and adult patients with SSADH deficiency may present with OCD symptoms. There is minimal literature regarding the pathological basis of OCD symptoms and their management amongst SSADH deficiency patients. CASE PRESENTATION: A 26-year-old woman with SSADH deficiency experienced obsessional slowness and hesitancy in her activities of daily living, with motor rituals and stereotypies of her hands and face. Neuroimaging revealed T2 hyperintensities of the globi pallidi bilaterally. Commencement of the serotonergic escitalopram moderately..

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