Magnetic Resonance Spectroscopy in Sjögren-Larsson Syndrome
Journal Title: Dicle Tıp Dergisi - Year 2016, Vol 43, Issue 2
Abstract
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disease showing an autosomal recessive transmission due to a lack of fatty acid aldehyde dehydrogenase. Spastic diplegia or triplegia, mental retardation and congenital lamellar ichthyosis are the major findings of the disease. The syndrome may be accompanied by various eye and teeth features, skeletal system anomaly, speaking defects, hypertelorism and epilepsy. A 9-month male patient has been hospitalized for convulsion and flaking on body. The patient history showed that flaking skin thickening and peeling was started at the birth, and he suffered a right-side focused seizure when he was three month-old and he was treated with phenobarbital and carbamazepine upon the epilepsy diagnosis. Wide ichthyosis, hypertelorism and bilateral simian line were observed in the physical examination. Bilateral punctuate lesions in cornea, pigment epithelial atrophy in the right eye and esotropia in the left eye have been determined during the eye examination. An epiteliform anomaly has been observed in the left hemisphere by electroencephalography. In brain magnetic resonance imaging (MRI), an increase in cerebral-cerebellar brain parenchyma and T1-T2 relaxation time and in the signal in corpus callosum (delayed myelination) have been determined. With the observation of the white matter in centrum semi oval using brain MRI spectroscopy, signs of a sphingolipid peak at 1.3 ppm have been observed. An SLS diagnosis has been proposed upon clinical and laboratory observations. We want to emphasize on the fact that in epilepsy cases with ichthyosis, SLS should be considered. Key words: Magnetic resonance spectroscopy, Sjögren-Larsson syndrome, epilepsy, ichthyosis, child
Authors and Affiliations
Fesih Aktar, Kamuran Karaman, Berfin Ö. Özmen, Muhammed Akıl, Gökmen Taşkın , Hüseyin Çaksen
Keywords
Related Articles
- EP ID EP128401
- DOI 10.5798/diclemedj.0921.2016.02.0695
- Views 124
- Downloads 0
Gelişme geriliğine sebep olan superior mezenterik arter sendromu
Superior mezenterik arter sendromu duodenum üçüncü kısmının aorta ve süperior mezenterik arter proksimal kısmı arasında basıya uğraması sonucu ortaya çıkan, nadir görülen ve yaşamı tehdit eden bir klinik tablodur. Bu...
Effects of Adenotonsillectomy on Acoustic, Perceptual, and Aerodynamic Parameters of Voice
Objective: In this study, we aimed to investigate the acoustic, perceptual and aerodynamic changes of voice after adenotonsillectomy by using objective methods. Methods: Thirty children, who underwent adenotonsillecto...
Dyke-Davidoff-Masson syndrome: Two case reports
Dyke-Davidoff-Masson syndrome was first described as a rare congenital malformation by Dyke in 1933. Main clinical findings include unilateral cerebral atrophy, fascial assymmetry, contralateral hemiparesis and seizures...
The relationship between severity of mitral valvular stenosis and the level of serum brain natriuretic peptide
Objectives: Although there have been a considerable number of reports about BNP levels in patients with mitral stenosis (MS), the relationship between the brain natriuretic peptid (BNP) level and the severity of MS is no...
The relationship between prognostic parameters and tumor associated tissue eosinophilia in supraglottic laryngeal tumors
Objective: Tumor-associated tissue eosinophilia (TATE) has been noted in human cancers, sometimes with different results regarding their association with clinical outcome. In this study, the association between TATE a...