Akademik Veri Yönetim Sistemi
15th Congress of the European Paediatric Neurology Society (EPNS), Praha, Çek Cumhuriyeti, 20 - 24 Haziran 2023, ss.435
Objective: Mutations in GNAO1 typically result in neurodevelopmental disorders such as developmental and epileptic
encephalopathy-17, and involuntary movements. To date, the association of variants in the GNAO1 gene with rhabdomyolysis has
been identified in few patients. We present a 2-year-old girl with a GNAO1 gene mutation who developed rhabdomyolysis.
Case presentation: A 2-year-old girl presented with fever, choreoathetosis and inability to eat for two days. She had a history of
hypotonia, global developmental delay, and hyperkinetic involuntary movements, including choreoathetosis. Abnormal involuntary
movements were exacerbated by illness and fever. She was born after uneventful pregnancy and delivery, with a
non-consanguineous marriage of her parents. She had no family history for neuromuscular disease. Laboratory tests showed high
serum creatine kinase level, transaminase and lactate dehydrogenase levels, myoglobinuria and normal renal function tests. Brain
MRI showed mild cerebral atrophy. Electroencephalography (EEG) revealed no pathological findings. The whole exome sequencing
test showed a novel de novo heterozygous variant of GNAO1 gene [c.736G>A; (p.Glu246Lys)], located on chromosome 16q13.
The mutation was confirmed by Sanger sequencing. Based on these clinical and laboratory finding, she was diagnosed
rhabdomyolysis related to neurodevelopmental disorder with involuntary movements associated with GNAO1 mutation. Initial
creatine kinase (CK) level was 76350 U/L. On the third day of hospitalization, creatine kinase level increased to 107000 U/L. She
was treated with excessively intravenous isotonic fluids containing sodium bicarbonate. On the sixth day of hospitalization, serum
creatine levels and choreoathetosis improved significantly.
Conclusion: Our case demonstrated that GNAO1 variants can cause severe developmental delay and refractory hyperkinetic
involuntary movements caused rhabdomyolysis. We suggest caution in terms of rhabdomyolysis when hyperkinetic movements
develop in patients with GNAO1 mutation.