Results 81 to 90 of about 9,652 (216)
Hereditary hemorrhagic telangiectasia (HHT) and several HHT‐like syndromes, including Wyburn–Mason, Cobb, Klippel–Trénaunay, Parkes Weber, neurofibromatosis type 1, PHACE(S), capillary malformation–AVM (CM‐AVM), Juvenile polyposis/HHT overlap, HHT type 5, PTEN hamartoma tumor syndrome, and blue rubber bleb nevus syndrome, share overlapping ...
Matteo Palermo, Carmelo Lucio Sturiale
wiley +1 more source
Combination of multiple cerebral cavernous malformations with a falx meningioma: A clinical case
Introduction. Cerebral cavernous malformations may coexist with various disorders of the central nervous system, including brain tumors. There are few descriptions of combined cavernous malformations and meningiomas in the literature.
L. V. Shagal +4 more
doaj +1 more source
Unusual Presentation of Cerebral Cavernous Malformation [PDF]
Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs.
Won-Hyung Kim +5 more
openaire +2 more sources
Hypertrophic olivary degeneration (HOD) is a rare condition resulting from a lesion in the Guillain-Mollaret triangle (GMT), causing transsynaptic degeneration and hypertrophy of the inferior olivary nucleus (ION).
Jihane EL Houssni +6 more
doaj +1 more source
Diagnóstico molecular de cavernomatosis cerebral
Resumen: Introducción: Las malformaciones cavernosas cerebrales (CCM; OMIM 116860) son engrosamientos cavernosos vasculares sin intervención del parénquima cerebral con una prevalencia estimada en la población general del 0,1-0,5%.
R. Mondejar, M. Lucas
doaj +1 more source
Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation [PDF]
Retinal cavernous hemangiomas are rare vascular anomalies, and can be associated with cerebral cavernous malformations (CCM). Distinct mutations have been reported in patients who have both CCMs and retinal cavernous hemangiomas. Fluorescein angiography,
Shantan Reddy +4 more
core +2 more sources
Background Cerebral cavernous malformations are complex vascular anomalies in the central nervous system associated with a risk of intracranial hemorrhage.
Basel Musmar +9 more
doaj +1 more source
A 10-year experience in paediatric spontaneous cerebral hemorrhage: which children with headache need more than a clinical examination? [PDF]
INTRODUCTION: When a child is seen in a clinic with a headache, stroke is certainly not the first on the list of differential diagnoses. In western countries, stroke is typically associated with adults and the elderly. Although rare, haemorrhagic strokes
Cotting, J. +3 more
core
Cavernous malformation of the optic chiasm: An uncommon location [PDF]
Cavernous malformations (CMs) of the optic chiasm are rare lesions often presenting with acute chiasmal syndrome or a progressive visual loss.
Alafaci, C. +6 more
core +2 more sources
Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney +2 more
wiley +1 more source

