TY  - JOUR
TT  - Magnetic Resonance Spectroscopy in Sjögren-Larsson Syndrome
AU  - Aktar, Fesih
AU  - Karaman, Kamuran
AU  - Özgökçe Özmen, Berfin
AU  - Akıl, Muhammed
AU  - Taşkın, Gökmen
AU  - Çaksen, Hüseyin
PY  - 2016
DA  - June
JF  - Dicle Medical Journal
JO  - diclemedj
PB  - Dicle University
WT  - DergiPark
SN  - 1300-2945
SP  - 356
EP  - 359
VL  - 43
IS  - 2
KW  - Magnetic resonance spectroscopy
KW  - SjögrenLarsson
syndrome
KW  - epilepsy
KW  - ichthyosis
KW  - child
N2  - 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.
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UR  - https://dergipark.org.tr/en/pub/dicletip/issue//500524
L1  - https://dergipark.org.tr/en/download/article-file/602880
ER  -