Aldahmesh et al. (2011) reported on a Saudi Arabian individual with recessive ELOVL4 mutations who displayed congenital ichthyosis.  The patient was born to healthy consanguineous first-cousin parents.   He was noted to have a collodion membrane covering the skin at birth, which resolved to be replaced with dry ichthyotic skin affecting all regions of the body.  He showed profound developmental delay and was severely handicapped with little interest in his surroundings when examined at age 6 years.  At age 4 months, he developed frequent refractory seizures.  He also had severe hypertonia in the upper and lower extremities and was generally immobile, consistent with spastic quadriplegia.  Brain MRI showed severely delayed myelination and brain atrophy.  Other features included recurrent bronchial asthmatic attacks, bilateral inguinal hernias, small testicular size, and loss of most of his teeth.  There were no clear dysmorphic features.  Biochemical analysis of fibroblast fatty aldehyde dehydrogenase (FALDH) activity was found to be normal in the first case, which suggested that this index had ‘‘pseudo-SLS’’. Exome sequencing revealed ahomozygouse truncating nonsense mutation in exon 5 of ELOVL4 as the most plausible candidate for causing the disease phenotype.