title: Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation.
abstract: Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and widespread brain atrophy. We report a Slovene girl with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay. The patient presented with segmental myoclonic jerks at the age of 6 weeks, and infantile spasms at the age of 3.5 months. Her seizures were resistant to treatment. Multiple electroencephalography recordings showed deterioration of the background activity, followed by multifocal abnormalities before progressing to hypsarrhythmia. Ophthalmologic examination revealed bilateral dysplastic, coloboma-like optic discs. Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination. A de novo heterozygous in-frame deletion was detected in SPTAN1: c.6619_6621delGAG (p.E2270del). This report supports the causative relationship between SPTAN1 mutations and early onset intractable seizures with severe hypomyelination and widespread brain volume reduction. Coloboma-like optic discs might be an additional feature observed in patients with SPTAN1 mutations.
authors.affiliation: Institute of Medical Genetics, University Medical Center, Ljubljana, Slovenia. karinwritzl@gmail.com
authors.forename: Karin
authors.initials: K
authors.lastname: Writzl
authors.forename: Zvonka Rener
authors.initials: ZR
authors.lastname: Primec
authors.forename: Barbara Gnidovec
authors.initials: BG
authors.lastname: Stražišar
authors.forename: Damjan
authors.initials: D
authors.lastname: Osredkar
authors.forename: Nuška
authors.initials: N
authors.lastname: Pečarič-Meglič
authors.forename: Branka Stirn
authors.initials: BS
authors.lastname: Kranjc
authors.forename: Kiyomi
authors.initials: K
authors.lastname: Nishiyama
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D003711:Demyelinating Diseases / Q000209:etiology* / Q000473:pathology; D004569:Electroencephalography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009186:Myelin Sheath / Q000473:pathology; D009901:Optic Nerve Diseases / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D013036:Spasms, Infantile / Q000150:complications / Q000235:genetics / Q000473:pathology; D013049:Spectrin
chemical_list: D002352:Carrier Proteins; D008840:Microfilament Proteins; D013049:Spectrin