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|Title:||Sjogren-Larsson Syndrome Case Report and Review of Neurologic Abnormalities and Ichthyosis|
|Authors:||Dutra, Livia Almeida [UNIFESP]|
Henriques de Aquino, Camila Catherine [UNIFESP]
Barsottini, Orlando Graziani Povoas [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
|Publisher:||Lippincott Williams & Wilkins|
|Citation:||Neurologist. Philadelphia: Lippincott Williams & Wilkins, v. 15, n. 6, p. 332-334, 2009.|
|Abstract:||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.|
|Appears in Collections:||Em verificação - Geral|
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