Akademik Veri Yönetim Sistemi
15th Congress of the European Paediatric Neurology Society (EPNS), Praha, Çek Cumhuriyeti, 20 - 24 Haziran 2023, ss.529
Introduction
The term episodic ataxia (EA) encompasses cerebellar ataxia manifestations of varying duration and frequency due to various
gene mutations. Up to 2010, eight types of EA were known, but Liao et al. described the ninth type of EA due to sodium
voltage-gated channel, alpha subunit 2 (SCN2A) mutation. We report an 8-year-old girl with SCN2A mutation presenting only with
recurrent cerebellar ataxia.
Case Presentation
An 8-year-old girl was admitted to our pediatric emergency outpatient clinic with inability to stand, unsteady gait, and vomit. She
was born after uneventful pregnancy and delivery, with a non-consanguineous marriage of her parents. Her developmental
milestones are consistent with age and gender group. She was first hospitalized at the age of 3 with unsteadiness and ataxic gait
after lower respiratory tract infection. Brain MRI and cerebrospinal fluid (CSF) findings were normal. She was diagnosed with
post-infectious cerebellar ataxia and completely recovered within 7 days without any treatment. On admission to the hospital, on
neurological examination, cerebellar tests showed dysdiadochokinesia, dysmetria, and ataxia. She had no signs of meningeal
irritation or nystagmus. Brain MRI was normal. On laboratory tests, the complete blood cell count and biochemical parameters
were normal. Viral serology tests and metabolic workup were normal. Thoracic, abdominal, and pelvic MRI for accompanying
paraneoplastic diseases were normal. Based on these findings, she was diagnosed with episodic ataxia. On the third day of
admission, acetazolamide (10 mg/kg/d) was started. On the sixth day of admission, persistent vomiting stopped and she was
discharged. Ataxia completely recovered after 14 days after admission to the hospital. The gene test detected a pathogenic
heterozygous mutation of c.2300T>C (p.I1e767Thr) in the SCN2A gene.
Conclusion
Pathogenic mutations in SCN2A are reported in a spectrum of neurological disorders including epileptic encephalopathy,
developmental delay, intellectual disability, episodic ataxia, autism spectrum disorder, and schizophrenia. SCN2A-related EA is a
rare neurological disorder that may benefit from acetazolamide therapy.