Investigators from Ljubljana, Slovenia report an 8-month-old female infant with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay. She presented with myoclonic jerks at 6 weeks and infantile spasms at age 3.5 months, accompanied by a hypsarrhythmia pattern EEG. Seizures were resistant to pyridoxine, levetiracetam, vigabatrin, and hydrocortisone. Topiramate was of some benefit, but the EEG progressed to a suppression-burst-like pattern. Brain MRI at 10 weeks of age revealed hypomyelination in the internal capsule and central regions, thinning of corpus callosum, and cortical atrophy. Eye exam showed dysplastic, coloboma-like optic discs. A heterozygous deletion was detected in SPTAN1 gene. [1]

COMMENT. Mutations in the alpha-II-spectrin (SPTANI) gene are previously described in 2 Japanese children with early onset West syndrome, hypomyelination, and hypotonia. (Saitsu et al, 2010, cited in Slovenia article). The Slovenia case expands the phenotypic spectrum to a Caucasian child and with coloboma-like optic discs. All 3 patients had deceleration of rate of head growth, resulting in microcephaly. Patients with infantile spasms show mutations to several genes, and the present report supports the theory of a symptomatic basis for the majority of West syndrome cases. [2][3]