Results 51 to 60 of about 2,465 (212)
The IED cutoff (GCIPL ≥ 4 μm or pRNFL ≥ 6 μm) showed 83% sensitivity and 55% specificity for detecting prior optic neuritis, and 67% sensitivity with 83% specificity for identifying asymptomatic optic nerve lesions in patients without prior history of optic neuritis.
Gualco Alessandro +13 more
wiley +1 more source
Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]
Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core +1 more source
CT of cerebral hemiatrophy [PDF]
Computed tomography (CT) findings in 10 cases of cerebral hemiatrophy are described. The CT appearance is typical and reflects the pathologic changes of unilateral loss of brain substance and calvarial thickening. In four patients with a mild form of the disease, a correct analysis of the pain skull radiographs was made only in retrospect. CT was found
openaire +2 more sources
Neurodevelopmental abnormalities in children with PHACE syndrome. [PDF]
Prior case reports have identified neurodevelopmental abnormalities in children with PHACE syndrome, a neurocutaneous disorder first characterized in 1996.
Barkovich, A James +8 more
core +1 more source
DYKE–DAVIDOFF–MASSON SYNDROME-A Rare Cause of Cerebral Hemiatrophy in a 17-Years-Old Ethiopian Patient: A Case Report [PDF]
BACKGROUND: Dyke-Davidoff-Masson syndrome (DDMS) is a rare disease with unknown frequency, mainly presented with seizures, facial asymmetry, contralateral hemiparesis and mental retardation. Often, resulting from brain injury due to a multitude of causes,
Alemayehu Ayele, Biniyam +1 more
core +2 more sources
Trudności diagnostyczne objawów napadowych u chłopca z zespołem Parry'ego-Romberga [PDF]
Parry-Romberg syndrome is characterized by progressive unilateral facial atrophy affecting subcutaneous tissue, cartilage and bone structures. Headache attacks and epilepsy are commonly associated with this syndrome but the underlying pathophysiology is ...
Biedroń, Agnieszka +3 more
core +5 more sources
Dyke–Davidoff–Masson syndrome with crossed cerebellar atrophy
Dyke–Davidoff–Masson syndrome is a rare condition with classical, clinical and radiological changes – mental retardation, hemiparesis, facial asymmetry, seizures and cerebral hemiatrophy with calvarial changes.
Sanjay M. Khaladkar +4 more
doaj +1 more source
Parry Romberg syndrome: A rare case report
The Parry Romberg syndrome (PRS) is a rare neurocutaneous disorder characterized by progressive facial hemiatrophy. Parry Romberg syndrome is characterized by a slow progressive atrophy that appears in the early stages of life, primarily affecting the ...
Raj Kumar Badam +3 more
doaj +1 more source
Anormalidade de sinal na imagem por RM do pólo temporal na epilepsia do lobo temporal com esclerose hipocampal: um estudo pela seqüência inversão recuperação com supressão da água livre (FLAIR) [PDF]
OBJECTIVE: To determine the frequency and regional involvement of temporal pole signal abnormality (TPA) in patients with hippocampal sclerosis (HS) using fluid-attenuated inversion-recovery (FLAIR) MR imaging, and to correlate this feature with history.
Abdala, Nitamar +8 more
core +3 more sources
We report a case of 8-year-old boy with unexplained desaturation and clubbing. Echocardiography showed anomalous drainage of right superior vena cava into left atrium. He did not have any neurological symptoms preoperatively.
Nilanjan Dutta +7 more
doaj +1 more source

