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At a glance

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

Synonyms

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

Incidence

Very rare with overall approximately 1/250,000 births. Demonstrated in regions with a significant consanguinity within the population (eg, in the Haliwas of Halifax and Warren Counties in North Carolina, Vasterbotten and Norrbotten County in Sweden). Sjogren Larsson Syndrome is estimated at 1:1,000 patients with mental retardation and in 1:2,500 pediatric dermatologic patients. No racial or sexual predilection.

Genetic inheritance

Autosomal recessive.

Pathophysiology

Caused by mutation in the ALDH3A2 gene, which is located on chromosome 17p11.2. This causes a deficiency in fatty aldehyde dehydrogenase (FALDH) and abnormal long-chain aldehyde metabolism. Clinical consequences are probably due to the accumulation of substrates not metabolized and/or fatty acids deficiency.

Diagnosis

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 aspects

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. It is not a fatal medical condition because most patients do not show a progressive neurodegenerative course. 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 to 30 months.

Precautions before anesthesia

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

Anesthetic considerations

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. General approach to the handicapped child.

Pharmacological implications

Consider interaction between antiepileptic treatment and anesthetic drugs.

References

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Subramanian  V, Hariharan  P, Balaji  J: Sjogren-Larsson syndrome: A rare neurocutaneous disorder J Pediatr Neurosci 11:68, 2016.  [PubMed: 27195039]
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Gordon  N: Sjögren-Larsson syndrome. Developmental Med & Child Neurol 49:152, 2007.
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Fernandez-Vozmediano  JM, Armario-Hita  JC, Gonzalez-Cabrerizo  A: Sjögren-Larsson syndrome: Treatment with topical calcipotriol. Pediatr Dermatol 20(2):179, 2003.  [PubMed: 12657023]
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Rizzo  WB, Carney  G, Lin  Z: The molecular basis of Sjögren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet 65:1547, 1999.  [PubMed: 10577908]
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Van Mieghem  F, ...

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