RESUMO
We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43.
Assuntos
Neurite do Plexo Braquial/genética , Cromossomos Humanos Par 19/genética , Loci Gênicos , Paraplegia Espástica Hereditária/genética , Adolescente , Idade de Início , Feminino , Homozigoto , Humanos , Mali , Linhagem , Polimorfismo de Nucleotídeo Único , Irmãos , Adulto JovemRESUMO
We report a patient who presented with a left proximal deep vein thrombosis at 25 + 5 weeks gestation. She developed a severe urticarial rash 3 weeks following initiation of therapy with Enoxaparin. The patient was heterozygous for the factor V Leiden mutation. She was treated with subcutaneous twice-daily danaparoid (Orgaran) for the remainder of the pregnancy, achieving anti-Xa levels in the therapeutic range 0.5-1.0 IU/ml. Delivery was at term by caesarean section 2 days after spontaneous rupture of membranes and failure to progress in labour. Danaparoid was withheld during this time. Danaparoid was restarted 3 h post delivery and the patient anticoagulated with warfarin in the post-partum period. There was no recurrence of thrombosis or bleeding events during therapy with danaparoid. No anti-Xa activity was demonstrated in breast milk.
Assuntos
Sulfatos de Condroitina/uso terapêutico , Dermatan Sulfato/uso terapêutico , Hipersensibilidade a Drogas , Enoxaparina/efeitos adversos , Heparitina Sulfato/uso terapêutico , Trombose Venosa/tratamento farmacológico , Adulto , Cesárea , Sulfatos de Condroitina/administração & dosagem , Sulfatos de Condroitina/análise , Dermatan Sulfato/administração & dosagem , Dermatan Sulfato/análise , Combinação de Medicamentos , Enoxaparina/uso terapêutico , Fator V/genética , Inibidores do Fator Xa , Feminino , Idade Gestacional , Heparitina Sulfato/administração & dosagem , Heparitina Sulfato/análise , Heterozigoto , Humanos , Injeções Subcutâneas , Leite Humano/química , Mutação , GravidezRESUMO
Ischaemic stroke is a rare occurrence in children and in a proportion of cases the aetiology remains unknown. We have investigated the role of thrombophilia in the aetiology of this condition. Of 50 cases identified at two centres, 37 were available for detailed haematological analysis. No cases were identified with deficiencies of antithrombin, protein C or protein S. One case had elevated IgG anticardiolipin antibodies at low titre. The prevalence of the prothrombin 20210 G-->A mutation, factor V Leiden (FVL) mutation and the C677T mutation in the MTHFR gene was compared in cases to that observed in random unselected cord blood controls. The odds ratio for stroke was not significantly increased in carriers of the prothrombin mutation (OR 1.2; 95% CI 0.1-10.7), FVL (OR 2.5; 95% CI 0.5-13.5), or the C677T mutation (OR 1.7; 95% CI 0.6-4.5). Our findings suggest that thrombophilia may not play a significant role in the aetiology of stroke in children, although a large prospective study is required to investigate this area further.