Propionic acidemia associated with visual hallucinations.

Area of Science:

• Neurology
• Metabolic Disorders
• Genetics

Background:

• Propionic acidemia is an inherited metabolic disorder caused by propionyl-CoA carboxylase deficiency.
• It leads to organic aciduria, metabolic acidosis, and hyperammonemia.
• Neurological complications, including brain abnormalities, are known in propionic acidemia.

Observation:

• This study reports recurrent visual hallucinations in two pediatric patients with propionic acidemia.
• Four distinct hallucination events were documented.
• Episodes were often preceded by illness or mild metabolic decompensation.

Findings:

• Visual hallucinations are a potential neurological manifestation of propionic acidemia.
• Brain MRI revealed basal ganglia abnormalities and temporo-occipital swelling.
• Seizure disorder with EEG abnormalities was noted in one patient.

Implications:

• Clinicians should consider visual hallucinations in the differential diagnosis of organic acidurias, particularly propionic acidemia.
• Unusual anxiety in children with organic acidurias may warrant investigation for visual disturbances.
• Early recognition of these hallucinations can aid in managing metabolic decompensation and neurological sequelae.