ALTERNATE NAMES

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

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:

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  Ichthyosis (dry, scaly skin);

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  Developmental delay, including intellectual disability;

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  Delayed speech;

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  Delayed motor development;

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  Spasticity (abnormal muscle stiffness);

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  Seizures;

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  Glistening white dots at the retina (back of the eye);

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  Spastic diplegia (paralysis of both legs or both arms) or tetraplegia (paralysis in all four limbs); and

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  Myopia (nearsightedness).

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 (fibrous scar tissue that prevents normal movement of a damaged area) progress, individuals may lose the ability to walk. About one-half of individuals 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 (itching) 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 MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the disorder;

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  Developmental assessment or psychological testing; and

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  Genetic testing showing mutations in ALDH3A2 gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

8.09

11.02

11.17

12.05

108.09

111.02

111.17

112.05

Diagnosis of SLS or laboratory testing results alone does not meet listing severity.

To evaluate under adult listing 8.09, listing-level skin and function findings must be documented;

To evaluate under an adult neurological or mental disorders listing, neurological and/or cognitive findings must be documented.

To evaluate under childhood listing 108.09, listing-level skin and function findings must be documented.

To evaluate under a childhood neurological or mental disorders body system listing, listing level neurological and/or cognitive findings must be documented.

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