| 1. |
- Kyllerman, Mårten, 1941, et al.
(författare)
-
Late cerebral graft versus host reaction in a bone marrow transplanted girl with Hurler (MPS I) disease.
- 2008
-
Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 39:5, s. 249-51
-
Tidskriftsartikel (refereegranskat)abstract
- A girl with Hurler disease (MPS IH) underwent allogeneic stem cell transplantation at 13 months of age with her one HLA-B antigen mismatch mother as donor. The procedure was complicated by cerebral hemorrhage and a ventricular-peritoneal shunt device was inserted. Mild GVH reactions were rapidly reversed. One year after transplantation ventriculitis was suspected and the shunt was replaced by a ventricular drainage catheter. Antibiotics had no effect and graft-versus-host disease (GVHD) was diagnosed. All symptoms were reversed by prednisolone and cyclosporine. Increased albumin and pleocytosis in the cerebrospinal fluid (CSF) normalized concomitantly. Electron microscopy of the CSF sediment showed debris consisting of numerous complex aggregates of thin lamellae and electron dense fragments with a tight lamellar texture. Biochemical analysis of the CSF sediment proved that the debris contained galactosylceramide and sulfatide. The electron microscopic and biochemical findings were interpreted to represent stripping of central myelin as a result of subacute GVHD in the central nervous system and its desquamation from the brain parenchyma into the ventricular CSF through the post-hemorrhage defect. From reversal of the GVHD at 2 years of age until follow-up at 10 years of age the clinical condition remained stable with no recurrence or deterioration.
|
|
| 2. |
|
|
| 3. |
- Lundvall, M, et al.
(författare)
-
Male Rett phenotypes in T158M and R294X MeCP2-mutations.
- 2006
-
Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 37:5, s. 296-301
-
Tidskriftsartikel (refereegranskat)abstract
- We report on three patients with MeCP2 mutation and male Rett phenotypes. Two brothers with T158M mutations and normal karyotype had a severe early onset encephalopathy, progressive microcephaly, severe feeding problems, breathing and sleep disturbances. They died at the ages of 1 year and 8 months, and 3 years and 1 month. This mutation has previously been reported in three males. The phenotypes show a strong resemblance, and might in fact represent a clinical-genetic entity of the T158M mutation within the complex of congenital encephalopathies in males with MeCP2 mutations. We also report a 3-year-old boy with a R294X mutation, normal karyotype, and a more protracted course. He was inactive and sucked poorly from start. The head growth decelerated from the age of 6 months and the feeding problems increased requiring gastrostomy. He had a rapid deterioration period at 2 years and lost sitting and hand grasping functions. He had prolonged periods with tremor and epileptic myoclonus, shifting tonus, and dystonic extension of the trunk and legs, bruxism, and irregular breathing. He was clinically stable with preserved visual and emotional contact function by the age of four years. None of the boys had dysmorphic features.
|
|
| 4. |
- Moslemi, Ali-Reza, et al.
(författare)
-
Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
- 2008
-
Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 39:1, s. 24-8
-
Tidskriftsartikel (refereegranskat)abstract
- Complex I of the oxidative phosphorylation system is composed of at least 45 subunits, seven of which are encoded by mitochondrial DNA (mtDNA). In this study we have investigated two children with complex I deficiency in muscle mitochondria. Patient 1 had cerebellar ataxia from early infancy and an abnormal MRI of the brain compatible with Leigh syndrome (LS). The course was rapidly progressive with frequent exacerbations and death at 2 years and 10 months of age. Patient 2 had a lactic acidosis in the newborn period and had a severe psychomotor developmental retardation. In her teens she developed hypertrophic cardiomyopathy and died at 26 years of age because of cardiac insufficiency. Sequencing analysis of mitochondrial encoded ND genes (MTND) showed two DE NOVO mutations in MTND1 in both patients. Patient 1 had a novel heteroplasmic G3890A mutation, R195Q. Patient 2 had a heteroplasmic G3481A mutation, E59K. The G3890A mutation in patient 1 is the first identified mutation in MTND1 in association with LS and complex I deficiency. The findings in this patient as well as in patient 2 demonstrate new clinical expressions of mutations in MTND1. The findings in patient 2 also illustrates that MTND mutations may be pathogenic even at a low percentage.
|
|
| 5. |
- Moslemi, Ali-Reza, et al.
(författare)
-
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
- 2005
-
Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 36:5, s. 314-8
-
Tidskriftsartikel (refereegranskat)abstract
- In this study we have analyzed the mtDNA encoded ATPase 6 and 8 genes ( MTATP6 and MTATP8) in two children with Leigh syndrome (LS) and reduced Mg (2+) ATPase activity in muscle mitochondria. In patient 1, with a mild and reversible phenotype, mutational analysis revealed a heteroplasmic T --> C mutation at nt position 9185 (T9185C) in the MTATP6. The mutation resulted in substitution of a highly conserved leucine to proline at codon 220. The proportion of the mutation was > 97 % in the patient's blood and muscle and 85 % in blood of his asymptomatic mother. Patient 2, with severe clinical phenotype and death at 2 years of age, exhibited a novel heteroplasmic T9191C missense mutation in the MTATP6, which converted a highly conserved leucine to a proline at position 222 of the polypeptide. The proportion of the mutation was 90 % in fibroblasts and 94 % muscle tissue. This mutation was absent in the patient's parents and sister suggesting that the mutation was de novo. Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS.
|
|
| 6. |
- Palmér, Lars, et al.
(författare)
-
Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002
- 2006
-
Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 37:3, s. 154-8
-
Tidskriftsartikel (refereegranskat)abstract
- In a nation-wide survey of Aicardi syndrome, defined as the onset of epilepsy in the first six months of life, agenesis of the corpus callosum (partial or total) and lacunar chorioretinopathy, 18 patients, all girls, born between 1975 and 2002 were identified in Sweden. Fifteen were definite cases and three were regarded as probable, since they only fulfilled two of three inclusion criteria in addition to other cerebral malformations and/or chorioretinal changes. Calculations based on this survey and population-based studies on epilepsy in retarded children yielded a prevalence rate in the range of 2 - 15 : 100 000 girls. All but one had an ordinary birth weight, length and head circumference for gestational age. One was born preterm, one post term. The age at diagnosis varied from three days to 12 years and decreased during the period reflecting the increased awareness of the syndrome. Eleven came to medical attention because of seizures. Six had myoclonic, four generalized tonic-clonic and eight tonic, clonic or complex partial seizures. One had hypsarrhythmia, five multifocal epileptiform activity, three bilateral independent bursts, two burst-suppression pattern, six other types of spikes and one slowing of background activity. Asymmetrical EEG abnormalities indicating independent hemispheric dysfunction were detected in 13/18 (72 %). Complete absence of the corpus callosum was found in 13/18 (72 %), although not identical with the previous group, a partial defect in 3/18 (17 %), and a thinning in 2/18 (11 %). Of 15 children with definite Aicardi syndrome, 13 had binocular and two monocular lacunae. In one of the latter two, subtle monocular lacunae were found on fundus photographs, but had been missed on repeated clinical examinations. Of three children with probable Aicardi syndrome typical lacunae were reported in one and other kinds of depigmentation in the other two. Most of the children had anomalous optic discs. Neuroimaging in infancy or early childhood combined with ophthalmological examination and ocular fundus photography will facilitate an early diagnosis of Aicardi syndrome. Seizure type and EEG abnormalities may be non-specific at onset.
|
|
| 7. |
|
|
| 8. |
- Persson, Eva-Karin, 1956, et al.
(författare)
-
Disabilities in children with hydrocephalus--a population-based study of children aged between four and twelve years
- 2006
-
Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 37:6, s. 330-6
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Children with hydrocephalus represent a heterogeneous group with various aetiologies and disability profiles. Over the years, continuous changes in medical care have occurred and updated information is important. AIM: To study disability profiles in aetiological and gestational age subgroups of children with hydrocephalus in the 1990s. METHOD: A population-based series of 114 children, 70 with infantile hydrocephalus and 44 with hydrocephalus associated with MMC. All the children were examined clinically and interviewed. RESULTS: Learning disabilities were present in 47 % of children with infantile hydrocephalus compared with 16 % of those with MMC, cerebral palsy in 27 % vs. zero and epilepsy in 34 vs. 11 %. Even after excluding children with cerebral palsy, the majority had abnormal tendon reflexes and scored below the 5th centile on a motor test. Hydrocephalus overt at birth, low gestational age, a perinatal origin, enlarged ventricles at follow-up and several shunt revisions all indicated risk factors for a poor outcome. CONCLUSIONS: In spite of major advances in management, hydrocephalus in children still has a considerable impact on outcome. Being born very preterm and with a hydrocephalus that is already overt at birth involve the highest risk of a poor outcome. Apart from major impairments, the children frequently have definite motor problems.
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
|
|
