Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.

Autor: Yıldız Y; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Turkey. Electronic address: yilmaz.yildiz@hacettepe.edu.tr., Ardıçlı D; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Turkey., Göçmen R; Hacettepe University Faculty of Medicine, Department of Radiology, Turkey. Electronic address: rahsan.gocmen@hacettepe.edu.tr., Yalnızoğlu D; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Turkey. Electronic address: dileky@hacettepe.edu.tr., Topçu M; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Turkey., Coşkun T; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Turkey., Tokatlı A; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Turkey. Electronic address: atokatli@hacettepe.edu.tr., Haliloğlu G; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Turkey. Electronic address: gtuncer@hacettepe.edu.tr.
Jazyk: angličtina
Zdroj: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Mar; Vol. 49, pp. 66-72. Date of Electronic Publication: 2024 Feb 15.
DOI: 10.1016/j.ejpn.2024.02.006
Abstrakt: Objective: To evaluate clinical characteristics and long-term outcomes in patients with guanidinoacetate methyltransferase (GAMT) deficiency with a special emphasis on seizures and electroencephalography (EEG) findings.
Methods: We retrospectively analyzed the clinical and molecular characteristics, seizure types, EEG findings, neuroimaging features, clinical severity scores, and treatment outcomes in six patients diagnosed with GAMT deficiency.
Results: Median age at presentation and diagnosis were 11.5 months (8-12 months) and 63 months (18 months -11 years), respectively. Median duration of follow-up was 14 years. Global developmental delay (6/6) and seizures (5/6) were the most common symptoms. Four patients presented with febrile seizures. The age at seizure-onset ranged between 8 months and 4 years. Most common seizure types were generalized tonic seizures (n = 4) and motor seizures resulting in drop attacks (n = 3). Slow background activity (n = 5) and generalized irregular sharp and slow waves (n = 3) were the most common EEG findings. Burst-suppression and electrical status epilepticus during slow-wave sleep (ESES) pattern was present in one patient. Three of six patients had drug-resistant epilepsy. Post-treatment clinical severity scores showed improvement regarding movement disorders and epilepsy. All patients were seizure-free in the follow-up.
Conclusions: Epilepsy is one of the main symptoms in GAMT deficiency with various seizure types and non-specific EEG findings. Early diagnosis and initiation of treatment are crucial for better seizure and cognitive outcomes. This long-term follow up study highlights to include cerebral creatine deficiency syndromes in the differential diagnosis of patients with global developmental delay and epilepsy and describes the course under treatment.
Competing Interests: Declaration of competing interest The authors declare no conflicts of interest.
(© 2024 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.)
Databáze: MEDLINE
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