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Comprehensive phenotyping of RFC1-related disorder: integrating electrophysiological, brain imaging, and otoneurological data in deep phenotyping Open
The syndrome defined by cerebellar ataxia, neuropathy, and vestibular areflexia (CANVAS) has been previously described as a cause of late-onset ataxia. With the discovery of biallelic expansion in the replication factor C subunit 1 (RFC1) …
A Sneeze Away From Paralysis: A Unique Case of Spontaneous Spinal Intradural Hematoma Open
Spontaneous spinal intradural hematomas (SSIH) are exceptionally rare and typically associated with trauma, coagulopathy, or vascular malformations. Even rarer are cases triggered by seemingly benign events such as sneezing. We report the …
View article: Benign extra-axial tumor complication – Avascular necrosis of a meningioma
Benign extra-axial tumor complication – Avascular necrosis of a meningioma Open
Intra-tumoral infarction is a rare complication in patients with meningioma. We report a case of a 36-year-old woman with a diagnosis of osseous cranial frontal and parietal dysplasia associated with multiple extra-axial lesions suggestive…
View article: Oculomotor nerve palsy, an unusual onset of polyarteritis nodosa
Oculomotor nerve palsy, an unusual onset of polyarteritis nodosa Open
Introduction Cranial nerve involvement in polyarteritis nodosa(PAN) is underrecognized and rarely reported. The aim of this article is to review the available literature and present an example of oculomotor nerve palsy in the course of PAN…
What Role for Carboxytherapy in the Treatment of Acne Scars? Open
Introduction: Acne is an extremely prevalent condition. The healing of active acne lesions may result in the development of scars. Atrophic scars are the main scars caused by acne and result from the degradation of collagen fibers. Carboxy…
Frontal fibrosing alopecia: state of the art and future directions Open
Frontal fibrosing alopecia (FFA) is a primary lymphocytic cicatricial alopecia, characterized by recession of frontotemporal hairline with frequent involvement of eyebrows and affecting occasionally other body areas. Entitled an emerging e…