Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.
Epileptic Disord
; 21(5): 466-470, 2019 Oct 01.
Article
en En
| MEDLINE
| ID: mdl-31617495
ABSTRACT
Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the asparagine synthetase gene. It is characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. A decrease in asparagine in CSF or plasma guides subsequent investigations in some cases, but normal values are described in other cases. Therefore, reaching a diagnosis is challenging and relies on exome sequencing. We report the case of a child with progressive microcephaly, irritability, startle reflexes, and jitteriness since birth. Focal clonic and myoclonic seizures, status epilepticus, and infantile spasms appeared in the first months of life. At first, the EEG showed multifocal epileptic activity which later turned into modified hypsarrhythmia and discontinuous activity. Brain MRI showed brain atrophy, a simplified gyral pattern, and poor myelination. Plasma asparagine levels were normal. Due to remote parental consanguinity, a study of contiguous regions of runs of homozygosity was performed, showing a 5-Mb region (chr795629078-100679007) including the asparagine synthetase gene. The molecular analysis of this gene led to identification of a novel homozygous missense mutation, c.761G>T(p.Gly254Val), in our patient. The peculiar electroclinical phenotype may lead to diagnostic suspicion and molecular analysis which may benefit genetic counselling. [Published with video sequence].
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Aspartatoamoníaco Ligasa
/
Encefalopatías
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Discapacidad Intelectual
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Microcefalia
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Epileptic Disord
Asunto de la revista:
CEREBRO
/
NEUROLOGIA
Año:
2019
Tipo del documento:
Article