ABSTRACT
Secondary Moyamoya disease, also known as Moyamoya syndrome has been rarely associated with Down syndrome. In pediatric patients, the usual presentation is that of ischemic stroke. Here is reported a 4-year-old child with Down syndrome and Moyamoya syndrome who presented with acute-onset right hemiplegia. A high index of suspicion is necessary to make the diagnosis.
Subject(s)
Child, Preschool , Down Syndrome/complications , Humans , Magnetic Resonance Angiography , Male , Moyamoya Disease/complications , Stroke/diagnosisABSTRACT
Rendu Osler Weber syndrome is a rare vascular disorder and presents with diagnostic problems because of varied and sometimes misleading clinical presentations and radiological findings. A case report of Rendu Osler Weber syndrome in which the diagnosis was suggested in view of presence of pulmonary Arterio-Venous malformations is described. The article also indicates the role of special imaging modalities like contrast echocardiography and pulmonary angiography in approaching the case.
Subject(s)
Arteriovenous Malformations/complications , Child, Preschool , Humans , Male , Pulmonary Artery/abnormalities , Pulmonary Veins/abnormalities , Telangiectasia, Hereditary Hemorrhagic/complicationsABSTRACT
Soto's syndrome, also known, as cerebral gigantism is a rare syndrome characterized by large size, large head and early psychomotor delay. Major diagnostic criteria include facial dysmorphisms, advanced bone age and developmental delay. Herein, a case of Soto's syndrome with rare finding of bilateral hydronephrosis and hydroureters is being reported.