Sjögren Larsson Syndrome (SLS)

Rare inborn error of lipid metabolism, characterized by congenital ichthyosis, mental retardation, and spasticity.

Fatty Acid Alcohol Oxidoreductase Deficiency; FAO Deficiency; Fatty Aldehyde Dehydrogenase Deficiency; FALDH Deficiency; SLS.

There are no epidemiological studies reported for SLS, however, it has been demonstrated that in regions where there is a significant consanguinity within the population, SLS is much more common (e.g., in the Haliwas of Halifax and Warren Counties in North Carolina). Internationally, the same pattern is reproduced in populations where consanguineous marriages are noted (e.g., Vasterbotten and Norrbotten County in Sweden). In these two regions, it has been discovered that a mutation was introduced around the 13th century. The prevalence of patients with SLS in northern Sweden is 8.3 cases per 100,000 births, whereas the prevalence of heterozygotes is 2% and the gene frequency is 0.01%. The overall incidence in Sweden is estimated to be around 0.6 cases per 100,000 births. A lower incidence (<1 case per 100,000 births) has been observed worldwide. Sjögren Larsson Syndrome is estimated at 1:1000 patients with mental retardation and in 1:2500 pediatric dermatologic patients. It is not a fatal medical condition because most patients do not show a progressive neurodegenerative course. There is no apparent racial predilection as well as no sexual predilection. Onset is in the newborn period, when symptoms usually begin and the first signs of the disease (first ichthyosis, subsequent neurologic symptoms) appear. The latter form of the disease develops in patients aged 4-30 months.

Autosomal recessive; gene mapped on 17p11.2; multiple allelic variants exist.

Caused by a deficiency in fatty alcohol oxidoreductase, which catalyzes the oxidation of medium-chain and long-chain fatty acids.

The disorder begins at birth with generalized ichthyosis and erythroderma. As the child ages, the scale becomes darker without erythema and is more pronounced around the umbilicus, neck, and flexures, typically sparing the face.

Clinical features involve skin (dry skin, ichthyosis, diffuse increased skin pigmentation, urticaria) and central nervous system (spastic diplegia or tetraplegia, scissor gait, seizures, mental retardation, speech deficits). Kyphosis, pigmentary retinal degeneration, and short stature are frequently associated.

Evaluate neurological function (clinical, CT/MRI scan, electroencephalography).

Regional anesthesia can be difficult because of kyphosis and skin lesions that can be superinfected. Venous access can be achieved generally without difficulty because skin lesions are generally spare on the dorsum of the hands and feet.

Consider interaction between antiepileptic treatment and anesthetic drugs.