[Neonatal epilepsy and inborn errors of metabolism].
Metabolic disorders constitute an important cause of neurologic disease, including neonatal epilepsy. Epilepsy rarely dominates the clinical presentation, which is more frequently associated with other neurologic symptoms, such as hypotonia and/or vigilance disturbances. In most cases, epilepsy secondary to inherited metabolic disorders presents with polymorphic clinical and electrographic features that are difficult to classify into precise epileptic syndromes. However, specific types of seizures, such as myoclonic seizures or distinctive electroencephalographic patterns, such as suppression burst patterns, epileptic syndrome or early myoclonic encephalopathy, may suggest a specific metabolic disease. The aim of this article is to help clinicians in reviewing potential metabolic diagnoses and approaching metabolic evaluations.
Bahi-Buisson
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N
Service de Neuropédiatrie et Maladies Métaboliques, Hôpital Necker-Enfants-malades, Assistance publique-Hôpitaux de Paris, 149, rue de Sèvres 75015 Paris, France. nadia.bahi-buisson@nck.ap-hop-paris.fr
Mention
K
K
Léger
P L
PL
Valayanopoulos
V
V
Nabbout
R
R
Kaminska
A
A
Plouin
P
P
Dulac
O
O
de Lonlay
P
P
Desguerre
I
I
D000367:Age Factors; D000927:Anticonvulsants / Q000627:therapeutic use; D001710:Biotin / Q000627:therapeutic use; D001921:Brain / Q000378:metabolism; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D002955:Leucovorin / Q000627:therapeutic use; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy; D011736:Pyridoxine / Q000627:therapeutic use; D012640:Seizures / Q000145:classification / Q000188:drug therapy / Q000209:etiology; D013997:Time Factors; D014803:Vitamin B Complex / Q000627:therapeutic use; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
D000927:Anticonvulsants; D014803:Vitamin B Complex; D005680:gamma-Aminobutyric Acid; D001710:Biotin; D011736:Pyridoxine; D002955:Leucovorin