SJÖGREN-LARSSON SYNDROME
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ALTERNATE NAMES
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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
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DESCRIPTION
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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.)
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
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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 motor development;
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Spasticity (abnormal muscle stiffness);
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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
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC ASSESSMENT
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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.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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8.09
11.02
11.17
12.05
108.09
111.02
111.17
112.05
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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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Equals
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* 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.
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