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OBJECT A gene contributing to the autosomal-dominant cerebral cavernous malformation (CCM) phenotype, KRIT1 (an acronym for Krev Interaction Trapped 1), has been identified through linkage analysis and mutation screening. The authors collected blood samples from 68 patients with familial CCM and 138 patients with apparently sporadic CCM as well as from(More)
OBJECT Children with neurofibromatosis Type 1 (NF1) can present with progressive arteriopathy of the branches of the internal carotid artery consistent with moyamoya syndrome. Clinical symptoms, radiographic evidence of ischemia, and the potential for disease progression may necessitate surgical revascularization to minimize the risk of stroke and(More)
OBJECT Moyamoya syndrome, a narrowing of the basal intracranial vessels accompanied by the development of a cloud of collateral "moyamoya" vasculature, causes cerebral ischemia and stroke. This study was undertaken to determine if a standardized neurosurgical revascularization procedure, pial synangiosis, conferred long-term benefit in pediatric patients.(More)
Craniopharyngiomas are epithelial tumors that typically arise in the suprasellar region of the brain. Patients experience substantial clinical sequelae from both extension of the tumors and therapeutic interventions that damage the optic chiasm, the pituitary stalk and the hypothalamic area. Using whole-exome sequencing, we identified mutations in CTNNB1(More)
OBJECT Progression of vasculopathy associated with moyamoya syndrome is extremely variable. The authors review their experience in patients with unilateral moyamoya syndrome to identify factors predictive of contralateral clinical and imaging-documented disease progression. METHODS The authors reviewed the clinical and imaging records of all patients with(More)
OBJECT Many children with sickle cell anemia (SCA) also have clinical and radiographic findings of an arteriopathy suggestive of moyamoya syndrome. These patients may continue to experience strokes despite optimal medical management. The authors wished to define features of moyamoya syndrome associated with SCA and determine the results of surgical(More)
BACKGROUND The author reports his experience with 79 craniopharyngiomas operated since 1988. The review demonstrates that the biological behavior of these tumors is extremely variable, and that surgical management requires resourcefulness, judgement, and flexibility in the operating room. RESULTS Tumors will recur after total resection (15% in this(More)
Congenital dwarfisms can be associated with a variety of vascular anomalies. Here, we describe 2 patients with congenital dwarfisms who presented with moyamoya syndrome and underwent indirect intracranial revascularization. The pathogenesis of moyamoya syndrome in this population is not well understood, but it is a major cause of stroke and early death in(More)
Atypical teratoid/rhabdoid tumors (AT/RT) are highly malignant lesions of childhood that carry a very poor prognosis. AT/RT can occur in the central nervous system (CNS AT/RT) and disease in this location carries an even worse prognosis with a median survival of 7 months. In spite of multiple treatment regimens consisting of maximal surgical resection(More)