Status epilepticus with Exitus in Symptomatic Leukodystrophy-Related Epilepsy of Infantile-Onset Pompe disease (IOPD)
2Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Child and Adolescent Neuropsychiatry Service (UONPIA), Italy
3Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurophysiopathology Unit, Italy
Introduction
Infantile-onset Pompe disease (IOPD) is a neuromuscular disease caused by an acid alpha-glucosidase enzyme deficiency. Enzyme replacement therapy (ERT) has increased life expectancy but a central neurological phenotype emerged.
Case Study
We report the case of a male subject diagnosed with IOPD at 3 months. ERT was started at 4 months of age with clinical remission. Psychomotor development continued almost normal until 6 years of age when his IQ was 79 (at lower limits, WPPSI-IV). Slow psychomotor deterioration followed, with his IQ at 11 years reduced to 56. Head MRI documented leukodystrophy, EEG showed a diffusely slowed background activity, evoked potentials revealed slowed central conduction, and electromyography marked signs of myogenic distress with repetitive high-frequency discharges.
Results
At 16 years of age, levetiracetam was started for focal seizures and the EEG documented intercritical frontal sharp waves. At 18 years of age, the patient was admitted to ED for vomiting and psychomotor slowing but the brain CT scan was negative. After 5 days, he experienced focal seizures with altered awareness (head-eye deviation to the right) and the EEG revealed status epilepticus with slow sharp waves in the left hemisphere, so he was treated with an additional load of levetiracetam. The MRI revealed subcortical atrophy consistent with the known leukoencephalopathy and diffuse left posterior cortical alteration. Subsequently, generalised tonic-clonic seizures appeared and he was unresponsive to midazolam and lacosamide. The patient died 1 month after admission.
Discussion
Children with IOPD surviving due to ERT may develop progressive leukodystrophy associated with neurological deterioration and epilepsy. To date, 5 more patients with epilepsy have been identified. Our case died of status epilepticus as a terminal cause of death, providing additional clinical, neuroradiological, and neurophysiological details.
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