COMPASSIONATE ALLOWANCE INFORMATION

SJÖGREN-LARSSON SYNDROME

ALTERNATE NAMES

Fatty Acid Alcohol Oxidoreductase Deficiency; FALDH Deficiency; Fatty Aldehyde Dehydrogenase Deficiency; Congenital Icthyosis Mental Retardation Spasticity Syndrome; Ichthyosis Spastic Neurologic Mental Retardation Disorder; Congenital Ichthyosis Oligophrenia and Spastic Paresis Syndrome; Ichthyosis Oligophrenia and Spastic Tetraplegia Syndrome; Ichthyosis Oligophrenia Syndrome

DESCRIPTION

Sjögren-Larsson Syndrome (SLS) is a rare, autosomal-inherited, cerebral palsy disorder that is characterized by dry, scaly skin (ichthyosis), neurological problems (spastic diplegia, usually involving the legs, or tetraplegia), eye problems, varying degrees of intellectual disability and developmental delay. (SLS should not be confused with Sjögren syndrome, which is a different disorder.)

At birth, the skin is red (erythematous), but later in infancy the skin becomes dry, rough, and scaly with a brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not affected.

People with this condition may have additional neurological signs and symptoms due to leukoencephalopathy, which is a disorder of white matter of the brain thought to contribute to many of the neurological signs and symptoms in people with SLS. Most affected individuals have intellectual disability that varies from mild to profound and is usually apparent by early childhood.

Other neurologic findings include speech difficulties (dysarthria) and delayed speech. Usually people with SLS are able to produce only short sentences with poorly formed words. In addition, approximately 40 percent of people with SLS have seizures.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of SLS is confirmed by genetic testing for mutations in the ALDH3A2 gene

Physical findings: Developmental delay, including intellectual disability; delayed speech; delayed motor development; abnormal muscle stiffness (spasticity); seizures; glistening white dots at the back of the eye (retina); ichthyosis ; and nearsightedness (myopia).

ICD-9: 757.1

ONSET AND PROGRESSION

Developmental delays usually become apparent during the first 2 years of life. Spasticity is almost always present by age 2 years. Seizures typically develop later in childhood. No progression of the intellectual deficit occurs after puberty and any developmental skills, once gained, are usually maintained over time. However, if contractures progress, individuals may lose the ability to walk. About one-half of people with SLS require wheelchair assistance and many others need some form of support to walk.

Individuals with SLS usually survive well into adulthood but require life-long care. Life expectancy is determined by the severity of neurologic disorders. Morbidity is associated with chronic neurologic disease and lifelong ichthyosis.

TREATMENT

The pruritus associated with SLS is treated with topical moisturizing creams and keratolytic agents. Daily water baths help keep the skin hydrated. Seizures are treated with standard anticonvulsant medications.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

• Clinical history and examination that describes the diagnostic features of the disorder.

• Developmental assessment or psychological testing to address allegations of intellectual disability or other mental disorders may be warranted.

• Genetic testing reports for ALDH3A2 gene mutations.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

11.02

11.17

12.05

11.02

111.17

112.05D

112.12

Listing level neurological and/or cognitive findings must be documented; diagnosis of SLS or laboratory testing results alone does not meet listing severity. Do not confuse SLS with Sjögren syndrome.

Equals Listing

* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.