TN 34 (08-20)

DI 23022.297 Sjogren-Larsson Syndrome

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. (SLS should not be confused with Sjögren syndrome, which is a different disorder.)

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

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

Physical findings:

  • Ichthyosis (dry, scaly skin);

  • 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);

  • Spastoc diplegia or tetraplegia; and

  • Nearsightedness (myopia).

ICD-9: 757.1

ICD-10: Q80

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.

SUGGEST PROGRAMMATIC ASSESSMENT
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the disorder;

  • Developmental assessment or psychological testing; and

  • Genetic testing showing mutations in ALDH3A2 gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.02

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.

11.17

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.
12.05 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.

111.02

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.

111.17

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.

112.05

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

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


To Link to this section - Use this URL:
http://policy.ssa.gov/poms.nsf/lnx/0423022297
DI 23022.297 - Sjogren-Larsson Syndrome - 08/28/2020
Batch run: 08/28/2020
Rev:08/28/2020