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- Fahnehjelm, Kristina Teär, et al.
(författare)
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Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency : a cross-sectional study with long-term follow-up.
- 2008
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Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907 .- 1600-0420 .- 1755-375X .- 1755-3768. ; 86:3, s. 329-337
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE To present long-term ocular complications and electroretinographic (ERG) findings in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency - a life-threatening metabolic disease - and the relation to age at diagnosis, treatment and other clinical parameters. METHODS Ten children with LCHAD deficiency underwent repeated ophthalmological evaluations including ERG. RESULTS All 10 children developed chorioretinal pathology. Regardless of age at diagnosis, initiation of treatment and age at examination, inter-individual differences were present. Profound chorioretinal atrophy, severe visual impairment and progressive myopia had developed in two teenagers. Milder chorioretinopathy with or without subnormal visual acuity was present in all other children. ERG was pathological in seven children. The chorioretinopathy often started in the peripapillary or perimacular areas. In one patient, unilateral visual impairment was associated with fibrosis. CONCLUSION Early diagnosis and adequate therapy might delay but not prevent the progression of retinal complications. Late diagnosis with severe symptoms at diagnosis, neonatal hypoglycaemia and frequent decompensations may increase the progression rate of the chorioretinopathy. LCHAD deficiency, a potentially lethal disease, is sometimes difficult to diagnose. Unusual chorioretinal findings should alert the ophthalmologist to the long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, especially if there is a history of neonatal hypoglycaemia or failure to thrive.
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| 3. |
- Honkaniemi, Emma, et al.
(författare)
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Acquired aplastic anaemia in seven children with severe hepatitis with or without liver failure
- 2007
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 96:11, s. 1660-1664
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Aplastic anaemia following hepatitis may develop in as many as 1 of 3 patients with non-A, non-B and non-C hepatitis. Several causative factors have been discussed, such as viral infections and autoimmunity. Here we describe the natural history of this condition in 7 children and investigate possible hepatitis-causing agents. Methods: We reviewed the medical records, bone marrow and liver biopsies of 7 children with severe hepatitis, with or without liver failure, who subsequently had developed aplastic anaemia. Results: The median time from onset of hepatic symptoms until diagnosed onset of aplasia was 54 days. No associated viral infections could be identified. On liver biopsy, a majority had lobular inflammation but lacked signs of autoimmune hepatitis, findings compatible with a viral aetiology. Three of 6 children had low reticulocyte counts already at onset of hepatitis. All, but one patient is alive at median follow-up of 8 years. Conclusion: The unknown pathogenetic mechanism appears to target liver and bone marrow simultaneously, because half of the children concomitantly had low reticulocyte counts and severe liver failure.
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| 4. |
- Nordenström, Anna, et al.
(författare)
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Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.
- 2008
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Ingår i: Journal of pediatric gastroenterology and nutrition. - 1536-4801. ; 47:1, s. 98-101
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Tidskriftsartikel (refereegranskat)abstract
- Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked disorder caused by impaired ability to metabolize glycerol resulting in elevated levels of glycerol in blood and urine (1). Glycerol kinase catalyzes the phosphorylation of glycerol to glycerol-3-phosphate, an important intermediate in both lipid and carbohydrate metabolism. Glycerol kinase deficiency can be found as an isolated enzyme deficiency or as part of an Xp21 contiguous gene syndrome resulting in a so-called complex form involving NR0B1 (DAX1, the locus associated with adrenal hypoplasia congenita) and the Duchenne muscular dystrophy gene. Isolated GKD may in some cases be present without symptoms; however, in other cases children with isolated GKD may present with vomiting, metabolic acidosis, ketotic hypoglycemia, lethargy, and unconsciousness. These crises can be associated with infections or strenuous physical activity (2). The patients have high concentrations of glycerol in blood and urine (3). Most laboratories determine triglyceride concentration by measuring glycerol after hydrolysis of triglycerides and make the assumption that the glycerol concentration is equal to the triglyceride concentration. This can lead to misinterpretation of the laboratory results and consequently a high level of free glycerol (before hydrolysis) in the case of GKD results in a false report of high triglyceride concentration. We describe the critical clinical course in a patient with isolated GKD who had not received a diagnosis when he acquired a fulminant Epstein-Barr virus (EBV) infection, which resulted in the development of acute liver failure. The reported elevated triglyceride levels were initially interpreted as an indication of hemophagocytic lymphohistiocytosis (HLH), which possibly complicated the clinical course. Molecular genetic investigations revealed a previously undescribed microdeletion of 4 nucleotides in the GK gene, resulting in the exclusion of 3 exons in the mRNA and an abolished enzyme activity.
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