[Sjögren-Larsson syndrome: 2 case reports].

Area of Science:

• Genetics and rare diseases
• Biochemistry and metabolic disorders
• Neurology and neurocutaneous conditions

Background:

• Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder.
• It stems from a deficiency in fatty aldehyde dehydrogenase (FADH).
• Key features include ichthyosis, intellectual disability, and spasticity.

Observation:

• Two cases of SLS with delayed diagnosis are presented.
• Symptoms included congenital ichthyosis, psychomotor retardation, and spastic tetraplegia.
• One patient also presented with Guillain-Barré syndrome.

Findings:

• Diagnosis was confirmed via fibroblast culture, lipid spectroscopy, and enzymology.
• Zileuton, a leukotriene synthesis inhibitor, showed moderate efficacy for pruritus and ichthyosis.
• Delayed diagnosis was noted due to non-neonatal symptom onset.

Implications:

• Early diagnosis of SLS can be challenging.
• Zileuton demonstrates partial therapeutic benefit, particularly for pruritus.
• The co-occurrence of SLS and Guillain-Barré syndrome is a rare association warranting further investigation.