Cases reported "sjogren-larsson syndrome"

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1/31. Incomplete sjogren-larsson syndrome in two Japanese siblings.

    sjogren-larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by ichthyosis, spastic diplegia and mental retardation. Biochemical studies have pinpointed the pathogenesis resulting in the deficiency of the fatty aldehyde dehydrogenase (FALDH) component of the fatty alcohol nad oxidoreductase complex. Histochemical analysis revealed a reduction in alcohol dehydrogenase (AD) activity in the skin. SLS patients have been categorized biochemically into two groups: complete and incomplete reduction according to the degree of FALDH deficiency. Our patients demonstrated incomplete clinical features, including a 1/3 reduction in FALDH activity, and decreased AD activity in the ichthyotic lesion. The phenotypical differences between our cases and classic SLS are probably due to the partial FALDH deficiency. ( info)

2/31. sjogren-larsson syndrome: early diagnosis, dietary management and biochemical studies in two cases.

    BACKGROUND: sjogren-larsson syndrome (SLS) is a rare autosomal recessive disorder with worldwide distribution. It consists of ichthyosis, spastic diplegia and mental retardation caused by an enzymatic defect in fatty alcohol oxidation. OBJECTIVE: To study the effects of dietary management on clinical outcome and plasma/red blood cell fatty alcohol and plasmalogen concentrations. methods: To reduce fatty alcohol production, we reduced total fat intake to 30% of total intake of calories. To correct d 6 desaturase deficiency, we supplemented the diet with both n-3 and n-6 fatty acids to obtain a linoleic/linolenic acid ratio of 6 with low erucic acid rapeseed oil, plus high unsaturated fatty acids. We used gas liquid chromatography to assay blood cell membranes and plasma fatty alcohols/plasmalogens. RESULTS: Two SLS infants with proven fatty alcohol/nad oxidoreductase deficiency were studied. Good clinical results were obtained in one of the patients when dietary intervention was started in early infancy and correlated well with plasma fatty alcohol decrease. However, no clinical improvement was seen in the other patient who started later with low compliance. acitretin therapy was necessary to control skin symptoms in this second patient. CONCLUSION: Dietary intervention using the combined approach described here may improve fatty alcohol metabolism in SLS. However, only very early intervention seems clinically beneficial. ( info)

3/31. MRI of three siblings with sjogren-larsson syndrome.

    sjogren-larsson syndrome (SLS) is a rare disorder with autosomal recessive inheritance. Its clinical, pathological, genetic, and biochemical manifestations have been thoroughly evaluated, but there is little imaging data, especially regarding MRI. We present brain MRI of three siblings with SLS and discuss our findings. ( info)

4/31. Proton MR spectroscopy of Sjogren-Larsson's syndrome.

    We performed single-voxel proton MR spectroscopy (1H-MRS) in two children with Sjogren-Larsson's syndrome (SLS). Both patients showed two abnormal spectral peaks at 1.3 ppm and 0.9 ppm that were obtained with short echo times. These two abnormal spectral peaks were seen in high-intensity areas on T2-weighted images and also in basal ganglia of normal intensities. 1H-MRS may be useful for establishing the diagnosis and investigating the natural history of SLS, and for evaluating the efficacy of therapeutic approaches to SLS. ( info)

5/31. 5-lipoxygenase inhibition: a new treatment strategy for sjogren-larsson syndrome.

    The sjogren-larsson syndrome (SLS) is a severe neurocutaneous disorder due to fatty aldehyde dehydrogenase (FALDH) deficiency. The recent discovery of the role of FALDH in the degradation of leukotriene b4 (LTB4) opened the way to the development of a new therapeutic strategy for SLS, i.e. 5-lipoxygenase inhibition. We treated one SLS patient with zileuton during five weeks. During the treatment period we found decreased values of LTB4 and omega-OH-LTB4. The severity of the pruritus diminished, and favorable changes in the child's behavior were observed. The height of the prominent "lipid peak" of cerebral white matter (that is characteristically found on proton magnetic resonance spectroscopy in SLS patients) decreased during treatment, and increased again when treatment was stopped. In conclusion, the beneficial effects of 5-lipoxygenase inhibition in SLS are very promising and encourage further research. ( info)

6/31. sjogren-larsson syndrome.

    sjogren-larsson syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. This has rarely been described in people of Indian origin, case reports mainly being restricted to Caucasians. We have described a 6-year-old girl with classical features of this syndrome, the symptoms having started in infancy. The spasticity is mainly diplegic in nature. skin changes of ichthyosis are generalized and more in the flexural areas. Mental retardation is severe. Management is supportive. ( info)

7/31. sjogren-larsson syndrome: biochemical defects and follow up in three cases.

    sjogren-larsson syndrome is a rare disorder that consists of congenital ichthyosis and neurological symptoms due to an enzymatic defect of fatty aldehyde dehydrogenase in the fatty alcohol cycle. We report three cases of sjogren-larsson syndrome in which the primary biochemical defect was established in two patients (patient 2: 175 pmol/min/mg; patient 3: 103 pmol/min/mg protein enzimatic activity in fibroblasts in skin, while normal controls were 8,860 /- 1,624, n: 22 ). A dietary program was proposed: reduced total fatty intake at 30% of total calories, n-3 and n-6 acids (canola oil) as well as unsaturated fatty acids (Milupan milk). Topical keratolytic agents were used too. Good clinical course was observed in one of the patients in whom dietary intervention was started in early infancy. In the other two patients, who started the therapy later (five and three years old), cutaneous symptoms were improved after treatment. ( info)

8/31. Sjogren - Larsson Syndrome: a case report.

    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. ( info)

9/31. Report of a Turkish child with Sjoren-Larsson syndrome associated with peripheral nerve involvement.

    Sjoren-Larsson syndrome is a rare hereditary neurocutaneous disorder characterized by ichthyosis, spastic di- or tetra-plegia, and mild to moderate mental retardation. In this article, we present a nine-year-old girl with the classical features of the syndrome associated with peripheral nerve involvement because of its rare presentation. To the best of our knowledge, only three cases of Sjoren-Larsson syndrome with peripheral nerve involvement have been previously reported in the literature. We assume that Sjoren-Larsson syndrome involves extensive disorders of the ectodermal tissues, including the peripheral nerves as well as the skin and the central nervous system. ( info)

10/31. Sjogren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol nad oxidoreductase activity.

    We report a boy and girl with a "new" multiple congenital anomalies/mental retardation syndrome which resemblances sjogren-larsson syndrome. Both patients had a concordant pattern of anomalies consisting of congenital lamellar ichthyosis with spontaneous improvement, moderate mental retardation, mild pyramidal involvement, telecanthus, flat facies, stubby long bones, and coxa valga. Severe myopia, ventriculoseptal defect, and postaxial polydactyly were present in the girl who had more severe bone involvement with dense, enlarged metaphyses, vertebral dysplasia, and advanced skeletal maturation of the lower limbs. Long-chain fatty alcohol nad oxidoreductase (FAO) and steroid sulfatase were normal. ( info)
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