Propionic acidemia associated with visual hallucinations

• Published in: Journal of child neurology Vol. 27; no. 6; p. 799
• Main Authors: Shuaib, Taghreed, Al-Hashmi, Nadia, Ghaziuddin, Mohammad, Megdad, Eman, Abebe, Dejene, Al-Saif, Amr, Doubi, Alaa, Aldhalaan, Hesham, Abouzied, Mohei Eldin, Al-Owain, Mohammed
• Format: Journal Article
• Language: English
• Published: United States 01.06.2012
• Subjects: Adolescent; Child; Diffusion Magnetic Resonance Imaging; DNA Mutational Analysis; Electroencephalography; Fluorodeoxyglucose F18; Hallucinations - complications; Hallucinations - diagnostic imaging; Hallucinations - genetics; Humans; Male; Methylmalonyl-CoA Decarboxylase - genetics; Mutation - genetics; Positron-Emission Tomography; Propionic Acidemia - complications; Propionic Acidemia - diagnostic imaging; Propionic Acidemia - genetics
• ISSN: 1708-8283
• DOI: 10.1177/0883073811426929

Propionic acidemia, an autosomal recessive disorder, is a common form of organic aciduria resulting from the deficiency of propionyl-CoA carboxylase. It is characterized by frequent and potentially lethal episodes of metabolic acidosis often accompanied by hyperammonemia. A wide range of brain abnormalities have been reported in propionic acidemia. We report recurrent visual hallucinations in 2 children with propionic acidemia. Four visual hallucination events were observed in the 2 patients. Three episodes were preceded by an intercurrent illness, and 2 were associated with mild metabolic decompensation. The 2 events in one patient were associated with a seizure disorder with abnormal electroencephalogram. Brain magnetic resonance imaging showed abnormal basal ganglia and faint temporo-occipital swelling bilaterally. This is probably the first report of visual hallucinations in propionic acidemia and should alert the treating clinicians to look for visual hallucinations in patients with organic acidurias, especially in an unusually anxious child.