Sjogren-Larsson syndrome (SLS) is a rare inherited pediatric disease involving lipid metabolism. This recessive inborn error involves mutations in the enzyme ALDH3A2, which causes fatty aldehyde dehydrogenase (FALDH) deficiency. With preterm birth common in infants with SLS, it presents symptoms such as spasticity, mental retardation, and ichthyosis (dry, scaly, and itchy skin).
Most prevalent in Sweden, SLS is usually apparent at birth as ichthyosis, with neurologic symptoms manifesting in the first or second year of the infant's life. These include delays in achieving milestones such as crawling, sitting, and walking, and spasticity usually evident in the legs. Cognitive deficits are typically in the mild to moderate range and do not result in intellectual deterioration, even as children age.
The treatment for Sjogren-Larsson syndrome is mainly symptomatic and includes moisturizing lotions and keratolytic agents that help remove excess scales. Medical experts normally treat patients with spasticity using muscle relaxants, anticholinergic drugs, benzodiazepines, and physiotherapy. Researchers are currently developing genetic science approaches that target ALDH deficiency and associated metabolic defects.
Most prevalent in Sweden, SLS is usually apparent at birth as ichthyosis, with neurologic symptoms manifesting in the first or second year of the infant's life. These include delays in achieving milestones such as crawling, sitting, and walking, and spasticity usually evident in the legs. Cognitive deficits are typically in the mild to moderate range and do not result in intellectual deterioration, even as children age.
The treatment for Sjogren-Larsson syndrome is mainly symptomatic and includes moisturizing lotions and keratolytic agents that help remove excess scales. Medical experts normally treat patients with spasticity using muscle relaxants, anticholinergic drugs, benzodiazepines, and physiotherapy. Researchers are currently developing genetic science approaches that target ALDH deficiency and associated metabolic defects.
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