A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report.

Lucia SantoroDorina PjetrajVirtut VelmishiCarmen CampanaCarlo CatassiCarlo Dionisi-ViciArianna Maiorana

Published in: Italian journal of pediatrics (2022)

The anti-epileptic therapy and the dietetic approach were well tolerated by the patient who showed good compliance. This led to a deceleration of the disease with no other acute episodes of seizures and rhabdomyolysis, without any side effects observed.

Keyphrases

case report
acute kidney injury
liver failure
respiratory failure
temporal lobe epilepsy
drug induced
aortic dissection
replacement therapy
stem cells
acute respiratory distress syndrome
intensive care unit
mesenchymal stem cells
extracorporeal membrane oxygenation
mechanical ventilation
smoking cessation