[MIM 270 200]

Very rare: approximately 1/250,000 births in Sweden. Autosomal recessive transmission of mutations of the ALDH3A2 gene (on 17p11.2). Neurocutaneous dysmyelinating disease caused by fatty aldehyde dehydrogenase deficiency: this enzyme is responsible for the oxidation of aldehydes (fatty alcohols, phytol, leukotriene B4, fatty acids). The clinical consequences are probably due to the accumulation of unmetabolized substrates and/or fatty acids deficiency.

The characteristic clinical triad consists of:

-        congenital ichthyosis: at birth, hyperkeratosis localized mainly at the flexion creases, neck and abdomen; later, very itchy ichthyosis of dark brown color

-        intellectual deficit of variable severity

-        spasticity: spastic diplegia or quadriparesis

Sometimes also: epilepsy (40%), ocular disorders (nystagmus, photophobia, retinal problems: crystalline inclusions near the fovea), short stature, kyphoscoliosis, dysphagia and excessive salivation.

At MRI, delayed myelination and  abnormal lipidic peak at 1.3 ppm in the periventricular white matter.

Symptomatic treatment: ichthyosis, spasticity, rehabilitation. For pruritus, zileuton (inhibitor of the lipooxygenase, which decreases the synthesis of leukotrienes) could be helpful.

Causal treatment: gene therapy is currently being tested.

Anesthetic implications:

difficult venous access (thick skin); photophobia (minimal lightning during induction and recovery); use elastic bands to secure the venous lines, the ECG electrodes, the endotracheal tube; risk of hypothermia; epilepsy, management of a polyhandicapped child

References : 

•        Galoin-Bertail C, Ogier de Baulny H, Wanders R, Schiff M, Bellavoine V, Mlika A, Benoist G, Baruteau J. 
  Le syndrome de Sjögren-Larsson : à propos de deux cas. 
  Arch Pédiatr 2012 ; 19 : 135-41.

-         Gordon N. 
Sjögren-Larsson syndrome. 
Developmental Med & Child Neurol 2007; 49 : 152-4.

Updated: December 2020