| SJÖGREN-LARSSON SYNDROME |
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ALTERNATE NAMES
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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
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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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Abnormal muscle stiffness (spasticity);
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Glistening white dots at the back of the eye (retina);
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Spastoc diplegia or tetraplegia; and
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Nearsightedness (myopia).
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 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.
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TREATMENT
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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.
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| SUGGEST
PROGRAMMATIC ASSESSMENT |
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 |
11.02
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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.
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11.17
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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.
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| 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.
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111.02
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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.
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111.17
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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.
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112.05
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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.
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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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