Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije +26 more
wiley +1 more source
A 31-year-old male with a history of right zygomaticomaxillary complex (ZMC) fracture presented with aesthetic concerns, continuous tearing, and double vision. The patient had undergone multiple surgeries post accident, resulting in an asymmetrical cheek
S. M. Balaji, Preetha Balaji
doaj +1 more source
Pyridostigmine Treatment for Pediatric Axonal Guillain–Barré Syndrome
ABSTRACT Introduction/Aims Direct involvement of the neuromuscular junction (NMJ) in the inflammatory process of Guillain–Barré syndrome (GBS) has been described. Despite this, the NMJ very rarely serves as a target for direct medical intervention in GBS.
E. Zohar‐Dayan +3 more
wiley +1 more source
Acute Acquired Comitant Esotropia Associated with Accommodative Excess in High Myopia
Acute acquired comitant esotropia (AACE) is a type of concomitant esotropia that has a sudden onset and is frequently associated with diplopia. Accommodative excess associated with AACE in myopic patients is rare.
Santosh Chhetri, Umesh Belbase
doaj +1 more source
Heterophoria, fusional vergence, and near point of convergence in Sudanese hospital-based population
Background: Fusional vergence amplitude is the amount of convergence and divergence that can be induced before fusion is lost and fusional vergence amplitude controls heterophoria.
Saif H. Alrasheed, Sulaiman Aldakhil
doaj +1 more source
Proptosis due to otolaryngology causes a study [PDF]
Proximity of orbit to nose and paranasal sinuses makes it rather vulnerable to insults due to otolaryngological causes. The medial wall of orbit (Lamina papyracea) is rather paper thin and ithappens to form the lateral wall of anterior ethmoid air cells.
Kothandaraman, Kamakshi +1 more
core +1 more source
Diffuse Infiltrating Perisellar Mass Mimicking Polyneuritis Cranialis
ABSTRACT Background Subacute oculomotor dysfunction encompasses a broad differential diagnosis, including autoimmune, infectious, vascular, and neoplastic etiologies. Primary skull base diffuse large B‐cell lymphoma (DLBCL) is a rare but treatable cause of cranial nerve dysfunction and may present subtly on conventional neuroimaging.
Paul Philipp Kastner +3 more
wiley +1 more source
Guillain-Barre syndrome (GBS) [PDF]
A 57-year-old Caucasian gentleman presented with bilateral progressive distal upper limb paraesthesiae, which he described as a feeling of “heaviness” followed by distal lower limb and mild tongue parasthaesia.
Grima, Maria Angela
core
Case report: Bilateral optic nerve sheath meningocele: clinical aspects
Optic nerve sheath meningocele is an enlargement of the sheath itself, consisting of a collection of cerebrospinal fluid along the perineural space. It should be considered primary if it is not associated with orbital–cerebral neoplasm or with cranio ...
Saray Catalán-Coronado +15 more
doaj +1 more source
Penatalaksanaan Fisioterapi Pada Kasus Diplopia Binocular et Causa Parese Nervous VI (Abducens) Dengan Modalitas Elecetrical Stimulation dan Eye Exercise Di RSUP.DR. Sardjito Yogyakarta [PDF]
Diplopia is the disorder on the sense of sight, where the sufferer will see two images of an object that is actually one. Nerve Abducens paresis results in rectus lateralis muscle decreasis in strength, so that the eye ball can not be moved laterally and
-, Farid Rahman, SST. FT., M.OR +3 more
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