Magnetic Resonance Spectroscopy in Sjögren-Larsson Syndrome

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.

Keywords

• Magnetic resonance spectroscopy, SjögrenLarsson syndrome, epilepsy, ichthyosis, child

Magnetic Resonance Spectroscopy in Sjögren-Larsson Syndrome

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.

Keywords

• Manyetik rezonans spektroskopi, Sjögren-Larsson sendromu, epilepsi, ihtiyozis, çocuk

References

1. 1. Sillén A, Alderborn A, Pigg M, et al. Detailed genetic and physical mapping in the Sjögren Larsson syndrome gene region in 17p11.2. Hereditas 1998;128:245-250.
2. 2. Fuijkschot J, Theelen T, Seyger MM, et al. Sjögren-Larsson syndrome in clinical practice. J Inherit Metab Dis 2012;35:955-962.
3. 3. Zribi H, A Souissi, Azzouz H, et al. Sjogren Larsson syndrome: a rare neurocutaneous disease. Rev Neurol (Paris) 2014;170:297-298.
4. 4. Tanteles GA, Nicolaou M, Patsia N, et al. A rare cause of pruritic ichthyosis: Sjögren-Larsson syndrome in the first reported patients of Cypriot descent. Eur J Dermatol 2015;25:495-496.
5. 5. Gomori JM, Leibovici V, Ziotogorski A, et al. Computed tomography in Sjögren-Larsson syndrome. Neuroradiology 1987;29:557-559.
6. 6. Nakayama M, Tavora DG, Alvim TC, et al. MRI and 1HMRS findings of three patients with Sjogren-Larsson syndrome. Arq Neuropsiquiatr 2006;64:398-401.
7. 7. Willemsen MA, Rotteveel JJ, Steijlen PM, et al. 5-Lipoxygenase inhibition: a new treatment strategy for SjogrenLarsson syndrome. Neuropediatrics 2000;31:1-3.