Functional neurologic disorders in an adult with propionic acidemia: a case report

Abstract

Background Inborn errors of metabolism are often characterized by various psychiatric syndromes. Previous studies tend to classify psychiatric manifestations into clinical entities. Among inborn errors of metabolism, propionic acidemia (PA) is a rare inherited organic aciduria that leads to neurologic disabilities. Several studies in children with PA demonstrated that psychiatric disorders are associated to neurological symptoms. To our knowledge, no psychopathological description in adult with propionic acidemia is available. Case presentation We aimed to compare the case of a 53-year-old woman with PA, to the previous psychiatric descriptions in children with PA and in adults with other inborn errors of metabolism. Our patient presented a large variety of signs: functional neurologic disorders, borderline personality traits (emotional dyregulation, dissociative and alexithymic trends, obsessive-compulsive disorders), occurring in a context of neurodevelopmental disorder. Conclusion Clinical and paraclinical examinations are in favor of a mild mental retardation since childhood and disorders of behavior and personality without any definite psychiatric syndrome, as already described in other metabolic diseases (group 3). Nonetheless, further studies are needed to clarify the psychiatric alterations within adult patients with PA.

Prevalence of propionic acidemia in China

“…Chronic neurological and cognitive complications are frequent in PA, including movement disorders, spastic paresis, intellectual disability and strokes of basal ganglia [ 23 ]. Late manifestations of neuropsychological disorders, such as autism and borderline personality traits, have also been reported [ 24 , 25 ]. Other complications may include recurrent pancreatitis, adaptive immune defects, rhabdomyolysis, optic atrophy, hearing loss, premature ovarian failure, and chronic kidney disease [ 26 – 29 ].…”

Correction to: Functional neurologic disorders in an adult with propionic acidemia: a case report

“…Following the publication of the original article [ 1 ], the authors identified that the funding note was missing. The funding note is given below.…”