| 1. |
|
|
| 2. |
- Eeg-Olofsson, Orvar, et al.
(författare)
-
Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family
- 2008
-
Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 12:5, s. 404-7
-
Tidskriftsartikel (refereegranskat)abstract
- Familial hyperCKemia is a rare condition, and a combination with Duchenne muscular dystrophy (DMD) is extremely rare. A boy showed muscle weakness from the age of 10 months and presented typical signs of DMD at the age of 18 months. The diagnosis was supported by markedly elevated serum creatine kinase (CK) value as well as by neurophysiological and muscle biopsy findings at the age of 23 months. The diagnosis was confirmed by identification of a stop codon in exon 43 (p.2095Arg>X) of the dystrophin gene. Interestingly, the father and his near relatives had increased serum CK values without any clinical symptoms or signs, nor a defect in caveolin-3 gene. We suggest that the occurrence of familial hyperCKemia may have triggered the early onset of symptoms in our patient.
|
|
| 3. |
- Gånemo, Agneta, et al.
(författare)
-
Sjögren-Larsson syndrome : a study of clinical symptoms and dermatological treatment in 34 Swedish patients
- 2009
-
Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 0001-5555 .- 1651-2057. ; 89:1, s. 68-73
-
Tidskriftsartikel (refereegranskat)abstract
- Sjögren-Larsson syndrome (SLS) is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation, caused by a deficiency of fatty aldehyde dehydrogenase. The aim of this study was to examine all 34 Swedish patients with SLS, emphasizing skin symptoms, dermatological treatment, and neurological symptoms (evaluated in some cases for more than 25 years by one and the same investigator). Structured interviews were conducted with the patients and their close relatives. All patients had generalized ichthyosis. The degree of scaling varied markedly inter-individually from moderate to severe, but there was no obvious change with age. Most patients had pruritus, suffered from hypohidrosis, and had palmo-plantar keratoderma. Nineteen patients (56%) were on oral acitretin and all patients were using some type of topical therapy. Motor disability with spasticity and muscular paresis was most pronounced in the legs and fairly slight in the arms. Twenty patients (59%) were dependent on a wheelchair for mobility. Poor blood circulation in the lower legs and oedematous feet were frequently found in adults. All patients had learning disability, which varied from slight to pronounced and was expressed in their speech disorders. Thirteen patients (38%) were being treated medically for epilepsy and all had photophobia. In conclusion, SLS is a chronic, severely disabling neurocutaneous disease in which optimal dermatological therapy is essential to relieve at least the patient's ichthyosis problem.
|
|
| 4. |
- Jagell, Sten, 1936-
(författare)
-
Sjögren-Larsson syndrome in Sweden : an epidemiological, genetic, clinical and biochemical study
- 1981
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The Sjögren-Larsson syndrome (SLS) is a genetically determined syndrome with autosomal recessive inheritance originally and comprehensively described from Sweden. It is characterized by the three cardinal signs congenital ichthyosis, spastic di- or tetraplegia and mental retardation.The present investigation covers all 35 SLS patients alive in Sweden in 1978 and the genetic study all 58 SLS patients born in Sweden in 1886-1977. Forty-five of these were bom in a restricted area in the northeast of Sweden and five more had ancestors from this area. This concentration is probably the result of a founder effect — transmission of the SLS gene mutation from early immigrants to this area — followed by little migration to and from this area. Ancestors of SLS patients have been traced back to an early immigrant to this area in the 14th century.The mean yearly incidences of SLS per 100.000 newborn during the years 1901-1977 were 0.6 in the whole of Sweden, 10.2 in the county of Västerbotten and 2.7 in the county of Norrbotten. The corresponding prevalence figures for SLS on 31 December 1978 were 0.4, 8.3 and 2.6 per 100.000 in these areas, respectively.The ichthyosis in the SLS was found to be congenital in the true sense of the word, as it was always seen at birth. The characteristic skin findings indicate that the use of replicas in ichthyotic patients may be a good complement to the clinical and histopathological examinations.All SLS patients had mental retardation and spastic di- or tetraplegia. The first observation of these symptoms was made between the age of 4 and 30 months.Small white glistening dots located in the ocular fundus were noted in all 30 SLS patients examined in this respect and seem to be pathognomonic for SLS.The fatty acid patterns of plasma phospholipids, cholesteryl esters, triglycerides and free fatty acids in SLS patients were examined. The results suggest that SLS is possibly a disorder of fatty acid metabolism leading to an altered composition of polyunsaturated fatty acids due to a disturbance in the A6-desaturation of essential fatty acids.
|
|
