Abstracts

Rationale:
Very-long-chain fatty acid (VLCFAs) play important roles in membrane structure and cellular signaling. Elongation of very long chain fatty acid-4 (ELOVL4) protein is a member of the ELOVL family of fatty acid elongase that is collectively responsible for catalyzing formation of long chain fatty acids. Distinct sets of mutations in ELOVL4 cause three different neurological diseases in humans, including Stargardt-like macular dystrophy, Spinocerebellar ataxia 34, and Neuro-ichthyotic syndrome. Homozygous mutation ELOVL4 causing intractable infantile spasm has not been reported.
Method:
Case report
Results:
A 13-month-old girl with no significant family history or parent consanguinity presented with profound developmental delays, congenital hypertonia, skin erythroderma and ichthyosis, congenital nystagmus and bilateral optic atrophy and limited vision after birth. He developed at 2-3 months of age with cluster of arm flexion movements. Neuro exam shows spasticity in all four extremities and skin ichthyosis; Eye exam shows bilateral optic nerve atrophy; MRI of brain was reportedly normal. She was diagnosed with infantile spasm after the EEG showed hypsarrhythmia pattern at 9 months of age. She was received two courses of ACTH, then started on Vigabatrin, Topamax and Depakote. She was recently started on Felbamate. None of those medications works for her seizures. Exome sequence analysis shows homozygous gene mutation for p.H158R (c473A >G) in exon4 in the ELOVL4 gene. Her mother shows heterozygous for p.H158R variant in the ELOVL4 gene.
Conclusion:
The ELOVL4 gene mutation is a rare condition associated with epilepsy. Our case identifies recessive ELOVL4 mutation causing neuro-ichthyotic syndrome with severe infantile epileptic encephalopathy and emphasize the importance of VLCFA in brain and cutaneous development.
Funding:
:None