INTRODUCTION: Sjogren-Larsson syndrome (SLS) is characterized by the triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. The hallmark of SLS is ichthyosis. We report a case and review the major differential diagnosis of SLS. CASE REPORT: A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis since birth. Computed tomography scan revealed hypodense areas in the periventricular white matter. Skin biopsy demonstrated a lamellar ichthyosis. These findings were compatible with SLS. CONCLUSION: When ichthyosis is associated with spasticity and mental retardation, one should consider SLS. If hypogonadism, ataxia, retinitis, cardiomyopathy, or dwarfism is present, other diagnosis rather than SLS should be investigated.
INTRODUCTION:Sjogren-Larsson syndrome (SLS) is characterized by the triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. The hallmark of SLS is ichthyosis. We report a case and review the major differential diagnosis of SLS. CASE REPORT: A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis since birth. Computed tomography scan revealed hypodense areas in the periventricular white matter. Skin biopsy demonstrated a lamellar ichthyosis. These findings were compatible with SLS. CONCLUSION: When ichthyosis is associated with spasticity and mental retardation, one should consider SLS. If hypogonadism, ataxia, retinitis, cardiomyopathy, or dwarfism is present, other diagnosis rather than SLS should be investigated.
Authors: Harvy M Velasco; Ehsan Ullah; Angela M Martin; Robert B Hufnagel; Carlos E Prada Journal: Am J Med Genet A Date: 2020-08-11 Impact factor: 2.578