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Moyamoya Syndrome (moyamoya + syndrome)
Selected AbstractsA case of moyamoya syndrome and hemoglobin E/beta-thalassemiaPEDIATRIC BLOOD & CANCER, Issue 3 2009Torrey M. Parker BSc Abstract Moyamoya syndrome is a rare diagnosis that has been linked to a small number of hemoglobinopathies. Children with Moyamoya syndrome tend to present with transient ischemic attacks, mental deficiency, and/or neurological deficits. We describe a case of a 15-year-old Cambodian male with HbE/,-thalassemia who was found to have left Moyamoya syndrome as part of an evaluation for growth hormone deficiency. The link between Moyamoya syndrome and HbE/,-thalassemia may be multifactorial, but Moyamoya syndrome is an important consequence to consider in children with HbE/,-thalassemia. Pediatr Blood Cancer 2009;52:422,424. © 2008 Wiley-Liss, Inc. [source] Intracerebral large artery disease in Aicardi,Goutières syndrome implicates SAMHD1 in vascular homeostasisDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 8 2010VENKATESWARAN RAMESH Aim, To describe a spectrum of intracerebral large artery disease in Aicardi,Goutières syndrome (AGS) associated with mutations in the AGS5 gene SAMHD1. Method, We used clinical and radiological description and molecular analysis. Results, Five individuals (three males, two females) were identified as having biallelic mutations in SAMHD1 and a cerebral arteriopathy in association with peripheral vessel involvement resulting in chilblains and ischaemic ulceration. The cerebral vasculopathy was primarily occlusive in three patients (with terminal carotid occlusion and basal collaterals reminiscent of moyamoya syndrome) and aneurysmal in two. Three of the five patients experienced intracerebral haemorrhage, which was fatal in two individuals. Post-mortem examination of one patient suggested that the arteriopathy was inflammatory in origin. Interpretation, Mutations in SAMHD1 are associated with a cerebral vasculopathy which is likely to have an inflammatory aetiology. A similar disease has not been observed in patients with mutations in AGS1 to AGS4, suggesting a particular role for SAMHD1 in vascular homeostasis. Our report raises important questions about the management of patients with mutations in SAMHD1. [source] A case of moyamoya syndrome and hemoglobin E/beta-thalassemiaPEDIATRIC BLOOD & CANCER, Issue 3 2009Torrey M. Parker BSc Abstract Moyamoya syndrome is a rare diagnosis that has been linked to a small number of hemoglobinopathies. Children with Moyamoya syndrome tend to present with transient ischemic attacks, mental deficiency, and/or neurological deficits. We describe a case of a 15-year-old Cambodian male with HbE/,-thalassemia who was found to have left Moyamoya syndrome as part of an evaluation for growth hormone deficiency. The link between Moyamoya syndrome and HbE/,-thalassemia may be multifactorial, but Moyamoya syndrome is an important consequence to consider in children with HbE/,-thalassemia. Pediatr Blood Cancer 2009;52:422,424. © 2008 Wiley-Liss, Inc. [source] | ||||||||||