Late onset AMACR deficiency with metabolic stroke-like episodes and seizures

• Published in: BMJ case reports 2022-04, Vol.15 (4), p.e247964
• Main Authors: Tanti, Matthew J, Maguire, Melissa J, Warren, Daniel J, Bamford, John
• Format: Article
• Language: English
• Subjects: Ataxia; Atrophy; Biopsy; Case reports; Case Reports: Rare disease; Cataracts; Diabetes; Dystonia; Enzymes; Eye movements; Fatty acids; Female; Genomes; Glaucoma; Humans; Illnesses; Ischemia; Lipid Metabolism, Inborn Errors; Liver; Migraine; Nervous System Diseases; Neuroimaging; Peroxisomal Disorders - diagnosis; Racemases and Epimerases - deficiency; Rhabdomyolysis; Seizures - drug therapy; Seizures - etiology; Stroke; Stroke - etiology
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2021-247964

Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder causing pristanic acid accumulation. Only 16 cases have been described so far. A female in her seventh decade presented with episodes of dysphasia, headache and sensory disturbance inconsistent with migraine, epilepsy or transient ischaemic attack. An MRI demonstrated unusual changes in the pons, red nuclei, thalami and white matter. Mitochondrial disease was suspected but detailed testing was negative. After eight years of symptoms, she developed a febrile encephalopathy with hemispheric dysfunction, focal convulsive seizures and coma. Her condition stabilised after one month. Lacosamide was continued for seizure prevention. The diagnosis remained elusive until whole genome sequencing revealed AMACR deficiency. Pristanic acid levels were highly elevated and dietary modification was recommended. Genetic peroxisomal disorders can present in older age; our patient is the oldest in the AMACR deficiency literature. Novel features in our case include central apnoea, dystonia and rapid eye movement behaviour disorder.