Clinical, radiological features and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele

Sphenoid Bone Pneumatisation on Lateral Cephalograms of Patients With Neurofibromatosis Type 1

“…However, the focus of studies on skull base dysplasia in NF1 is on the pathognomonic malformation of the sphenoid bone, especially the wings and the sella turcica (18). Individual studies also focus on the deformation of adjacent bones (11,13,54,56), shortening of the anterior skull base (57), and they discuss surgical procedures to correct orbital dysplasia (58)(59)(60)(61)(62). Some authors are concerned with whether the sphenoid bone changes are genuine skeletal malformations or the consequence of a tumour manifestation, but they do not address the pneumatisation of the bone (13,(63)(64)(65).…”

Oscillopsia following orbitotomy for intracranial tumor resection

“…[ 25 ] Some neurofibromatosis type 1 patients with sphenoid wing dysplasia may present with pulsatile exophthalmos and proptosis. [ 12 , 15 , 18 ]…”

Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day

“…A rare cause of Horner's syndrome, cervicothoracic spinal root cysts, was described by Karti et al [7]. Clinical, radiological features, and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele were reported by Niu et al [8], and Santoro et al [9] in a child with neurofibromatosis type 2 and unilateral moyamoya discussed on further evidence of cerebral vasculopathy in NF2 and SCN11A variant as possible pain generator in sensory axonal neuropathy (Ginanneschi et al) [10]. Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa was described by Gragnaniello et al [11]; an overview on degenerative and acquired sporadic adult onset ataxia was reported by Lieto et al [12] and by Teive et al [13].…”