Atypical Presentation of Sjögren-Larsson Syndrome
نویسندگان
چکیده
منابع مشابه
Atypical Presentation of Sjögren-Larsson Syndrome
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if int...
متن کاملKarl Gustaf Torsten Sjögren and Sjögren-Larsson syndrome
Karl Gustaf Torsten Sjögren (1896-1974), (Figure 1), a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry.1-4 Sjögren studied medicine at the University of Uppsala.1 From 1932 to 1935, he was Head Physician and Director of Lillehagen Hospital in Gothenburg, and between 19351945, he was physician-in-chief at the psychiatric department of Sahlgrenska Hospital in Gothe...
متن کاملSjögren-Larsson syndrome in a Turkish family.
Sjogren-Larsson syndrome, first described by Sjogren in 1956, and then jointly with Larsson in 1957, is known to occur in different populations throughout the world (Blumel, Watkins, and Eggers, 1958; Richards, 1960; Link and Roldan, 1958; Zaleski, 1962; Heijer and Reed, 1965; Selmanowitz and Porter, 1967). The condition appears to be a clinical and pathological entity characterized by ichthyos...
متن کاملMR of the brain in Sjögren-Larsson syndrome.
Cerebral MR was performed in three patients with Sjögren-Larsson syndrome. In each case, a 1.5-T system was used, and the patient was under general anesthesia. The MR findings included confluent hyperintense white matter lesions in the periventricular and deep white matter of the centrum semiovale, with sparing of the subcortical U fibers. The topography of the white matter abnormalities correl...
متن کاملSjögren-Larsson syndrome in two brothers: a case report
Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. ...
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ژورنال
عنوان ژورنال: Case Reports in Pediatrics
سال: 2017
ISSN: 2090-6803,2090-6811
DOI: 10.1155/2017/7981750