Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation

Epileptic spasms are the most common type of seizure in infants with Down syndrome; however, the scope of current literature is largely limited to treatment options. We performed a chart review of patients seen at a Down syndrome specialty clinic to identify potential developmental sequelae of Down syndrome and epileptic spasms. We further interviewed parents of the children with Down syndrome and epileptic spasms to identify areas for improvement in counseling, diagnosis, and follow-up. Persistent developmental delays and autism spectrum disorder were highly prevalent in our patients. Caregivers attributed delays in treatment to insufficient counseling and awareness of epileptic spasms. They also identified inadequate emotional support after the diagnosis of the spasms. When counseling parents of infants with Down syndrome, pediatricians should educate about epileptic spasms. If spasms are diagnosed, providing emotional support with frequent follow-up is important. Furthermore, clinicians should monitor for signs of epilepsy and autism spectrum disorder.

Download Full-text

Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report

Neuropediatrics ◽

10.1055/s-0040-1708536 ◽

2020 ◽

Vol 51 (06) ◽

pp. 417-420

Author(s):

Atsuro Daida ◽

Shin-ichiro Hamano ◽

Satoru Ikemoto ◽

Yuko Hirata ◽

Ryuki Matsuura ◽

...

Keyword(s):

Ketogenic Diet ◽

Adrenocorticotropic Hormone ◽

Seizure Control ◽

Epileptic Encephalopathy ◽

Severe Form ◽

Focal Seizures ◽

Aspartate Receptor ◽

Epileptic Spasms ◽

Glycine Cleavage ◽

Nonketotic Hyperglycinemia

Abstract Background Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system; the neurological damage is mainly attributed to overstimulation of the N-methyl-D-aspartate receptor. Case The patient presented with a severe form of nonketotic hyperglycinemia and experienced frequent epileptic spasms and focal seizures, which were resistant to vigabatrin, adrenocorticotropic hormone therapy, and combined dextromethorphan and sodium benzoate treatments. By 9 months of age, perampanel reduced epileptic spasms by >50%. At 14 months of age, the ketogenic diet markedly reduced focal seizures and glycine levels in the cerebrospinal fluid. Conclusion Perampanel reduced fast excitatory neuronal activity, which was induced by an α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor, followed by prolonged electrical depolarizations due to an N-methyl-D-aspartate receptor. Furthermore, the ketogenic diet may have modulated the excessive neurotoxic cascade through the N-methyl-D-aspartate receptor. Perampanel and ketogenic diet were effective for seizure control in our patient.

Download Full-text

West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature

Frontiers in Pediatrics ◽

10.3389/fped.2021.621200 ◽

2021 ◽

Vol 9 ◽

Author(s):

Marc Gibaud ◽

Magalie Barth ◽

Jérémie Lefranc ◽

Karine Mention ◽

Nathalie Villeneuve ◽

...

Keyword(s):

Pyridoxal Phosphate ◽

Clinical Presentation ◽

De Novo ◽

West Syndrome ◽

Therapeutic Trial ◽

Review Of The Literature ◽

Focal Seizures ◽

Epileptic Spasms ◽

French Cohort

Objective: To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as de novo West syndrome, i. e., West syndrome that starts after the age of 2 months without other types of seizures (focal seizures for instance) before the onset of epileptic spasms.Methods: We analyzed data from an unpublished cohort of 28 genetically confirmed cases of PDE with antiquitine (ATQ) deficiency and performed a review of the literature looking for description of West syndrome in patients with either PDE with ATQ deficiency or PLP-dependent epilepsy with Pyridox(am)ine phosphate oxidase (PNPO) deficiency.Results: Of the 28 cases from the ATQ deficiency French cohort, 5 had spasms. In four cases, spasms were associated with other types of seizures (myoclonus, focal seizures). In the last case, seizures started on the day of birth. None of these cases corresponded to de novo West syndrome. The review of the literature found only one case of PNPO deficiency presenting as de novo West syndrome and no case of ATQ deficiency.Significance: The presentation of PDE- and PLP-dependent epilepsy as de novo West syndrome is so exceptional that it probably does not justify a systematic trial of pyridoxine or PLP. We propose considering a therapeutic trial with these vitamins in West syndrome if spasms are associated with other seizure types or start before the age of 2 months.

Download Full-text