ABSTRACT
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.
Subject(s)
Lipid Metabolism, Inborn Errors , Peroxisomal Disorders , Stroke , Female , Humans , Nervous System Diseases , Peroxisomal Disorders/diagnosis , Racemases and Epimerases/deficiency , Seizures/drug therapy , Seizures/etiology , Stroke/etiologyABSTRACT
Quality of life (QoL) is regarded as an important outcome measure in meningioma, and studies have investigated the role of various clinical and demographic factors. Epilepsy is known to impair quality of life but the impact of epilepsy on quality of life in a meningioma population is not well defined. The aim of this systematic review is to identify and summarise the current literature on meningioma, epilepsy and quality of life. A PubMed search was performed that identified 162 articles. Only 4 articles relevant to meningioma, epilepsy and QoL were found and each were analysed in terms of design, data, findings and conclusions. Each article was different in terms of study population, aims and outcome measure, but all suggest that epilepsy has an impact on quality of life. Anti-epileptic drugs, uncontrolled seizures and cognitive dysfunction may be particularly significant. The identified articles were weakened by small sample size, short follow-up, a lack of recorded epilepsy variables and the use of quality of life measures that are either too specific or not validated. Future studies are warranted to improve understanding in this topic, aid clinical decisions and improve QoL in these patients.
