Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/31940
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)
Keywords: ichthyosis
Sjogren-Larsson
Refsum disease
Tay syndrome
Dorfman-Chanarin syndrome
Rud syndrome
Passwell syndrome
Issue Date: 1-Nov-2009
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.
URI: http://repositorio.unifesp.br/handle/11600/31940
ISSN: 1074-7931
Other Identifiers: http://dx.doi.org/10.1097/NRL.0b013e3181906ff9
Appears in Collections:Em verificação - Geral

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