Results 151 to 160 of about 2,293 (174)

Sjogren-Larsson Syndrome

The Neurologist, 2009
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.A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis since birth ...
Lívia Almeida, Dutra, Camila Catherine Henriques, de Aquino, Orlando Graziani Povoas, Barsottini   +2 more
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Ocular features of Sjogren–Larsson syndrome

Clinical & Experimental Ophthalmology, 2007
AbstractSjogren–Larson syndrome is a rare autosomal recessive neurocutaneous disorder characterized by a triad of intellectual disability, spastic diplegia or tetraplegia and congenital ichthyosis with associated ocular features, which include pigmentary changes in the retina.
Sher A Aslam, Hiten G Sheth
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SjÖgren-Larsson Syndrome

2008
Sjogren-Larsson syndrome (SLS) is a metabolic disorder with neurocutaneous features inherited as an autosomal recessive trait (OMIM # 270200) characterized by a clinical triad of congenital ichthyosis, gradually developing spastic di- or tetraplegia and mental retardation (Gordon 2007; Rizzo 2006, 2007).
RUGGIERI, MARTINO, PASCUAL CASTROVIEJO I.   +1 more
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Typical Neuroradiological Features of Sjogren-Larsson Syndrome

The Neuroradiology Journal, 2009
Sjogren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous disorder with typical findings on MRI. We describe the typical MRI and MR Spectroscopy findings in a clinically diagnosed case of Sjogren-Larsson syndrome.x
G, Srinivasan, P, Ushanandhini, S, Srividya, S, Ramprabhanath   +3 more
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Sjogren Larsson syndrome: a case report

2015
Sjogren Larsson sendromu konjenital ihtiyozis, spastik diplejitetrapleji ve mental retardasyon He karakterize otozomal resesif geçişli bir hastalıktır. Hastalardaki temel patoloji yağ alkol oksıdasyon bozukluğundaki yetmezliktir. Bu çalışmada ihtiyozis, spastik dipleji, serebral kortikal atroji ve subdural efuzyon nedeniyle izlediğimiz 11 aylık bir kız
ÖZGEN, Dr. Ünsal, ŞENOL, Dr. Mustafa, ÖZCAN, Dr. Cemal, BÖLÜK, Dr. Ayhan, KARABİBER, Dr. Hamza, GÖĞCÜOĞLU, Dr. Meltem, EKMEKÇİ, Dr.hakan   +6 more
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Sjogren-Larsson Syndrome

2001
Promotores : Sengers, R.C.A., Rotteveel, J.J., Gabreëls, F.J.M.
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Sjogren - Larsson Syndrome: a case report.

Neurology India, 2002
Two male siblings aged 8 and 11 years, born of non-consanguineous parents, presented with classical triad of congenital ichthyosis, mental retardation and spastic diplegia. They had no eye, hair, nails and teeth changes. MRI showed diffuse dysmyelination.
A K, Dhanuka, M, Gupta
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Sjogren-Larsson syndrome - A case report

1993
In this study, a newborn infant with Sjogren-Larsson syndrome is presented with clinical, EEG and brain computed tomography findings, and congenital ichthyosiform dermatoses which progress with neurologic involvement, have been reviewed in differential diagnosis.
Yazicioglu M., Kirimi E., Karaca M., Utku U.   +3 more
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[Sjogren-Larsson syndrome. Apropos of a case].

Annales de dermatologie et de venereologie, 1988
Sjögren-Larsson syndrome is a rare genodermatosis described by Sjögren and Larsson in 1957 (28) and characterized by ichthyosis, spastic di- or tetraplegia and oligophrenia. In the case reported here a female child, born to consanguineous parents, presented at birth as a "collodion baby".
J L, Bonafé, C, Peyraga, J M, Lafitte, R, Salvayre, P, Rochiccioli   +4 more
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Sjogren-Larsson syndrome in clinical practice

2012
This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjogren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician ...
Fuijkschot, J., Theelen, T., Seijger, M.M., van der Graaf, M., van der Graaf, M., van der Graaf, M., de Groot, I.M., Wevers, R.A., Wevers, R.A., Wevers, R.A., Wanders, R.J., Waterham, H.R., Willemsen, M.A.A.P., Willemsen, M.A.A.P.   +13 more
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