Paediatric presentation of familial cerebral cavernoma

Abstract

We report the case of a 13-year-old male who presented with headaches and was presumed to have a brain tumour. He was subsequently found to have multiple cerebral cavernomas with haemorrhage and positive family history. We review the literature on familial cavernomas. Cerebral cavernous malformations (CCMs) are characterized by abnormally enlarged capillary cavities without intervening brain parenchyma [Verlaan et al. Neurology 2005; 65:1982-1983] that may involve any part of the central nervous system. Focal neurologic deficit and haemorrhage occur in 45% of children, higher than in adults [Stoeter. Neurosurg Rev 2001; 24]. Paediatric patients with symptomatic cavernous malformations should be treated surgically because of the risk of haemorrhage [Lee et al. Child's Nervous Syst 2008; 24:321-327].

Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review

“…Although benign in nature, the abnormally enlarged capillary cavities carry risks of spontaneous hemorrhage especially with underlying thrombocytopenia. 14,15 Another Chinese patient was reported to have hepatic infantile hemangioendothelioma. 12 Vascular malformation is possible as defective sphingolipids may influence angiogenesis and vascular stabilization.…”