Ischaemic neuropathy is a rare phenomenon given the rich arterial collateral supply afforded to peripheral nerves by the vasa nervorum. We report an unusual case of unilateral foot drop secondary to long-segment popliteal artery occlusion. Without expedient vessel imaging and revascularisation of the occluded artery, this reversible cause of neurological deficit would likely have resulted in a poor functional outcome for our patient.
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http://dx.doi.org/10.1016/j.jocn.2021.02.030 | DOI Listing |
J Hum Genet
December 2024
Department of Neurology, General Hospital of Ningxia Medical University, Yinchuan, China.
Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a group of extremely rare autosomal recessive neurological disorders characterized by predominant sensory dysfunction and attendant severe complications, such as limb destruction. Our study reports a Chinese patient who met the diagnostic criteria for HSAN2 and harbored a homozygous mutation in the WNK1 gene (NM_213655.4: c.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Physical Medicine and Rehabilitation, Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No.45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia.
Background: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.
View Article and Find Full Text PDFBrain Dev
December 2024
Department of Medical Genetics Medical Faculty, Aksaray University, Aksaray, Turkiye.
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.
View Article and Find Full Text PDFImmunotherapy
December 2024
Department of Clinical Immunology and Allergy, Flinders Medical Centre, Bedford Park, South Australia.
Relapsing polychondritis is rare and affects non-synovial fibrocartilage. Currently, there is a paucity of treatment algorithms, especially for those with refractory disease. A middle-aged man presented with polychondritis affecting the nose, ears, joints, and larynx.
View Article and Find Full Text PDFNat Rev Dis Primers
December 2024
Department of Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Guillain-Barré syndrome (GBS) is a rare immune-mediated polyradiculoneuropathy. Patients typically develop rapidly progressive weakness and sensory deficits that can result in complete paralysis requiring mechanical ventilation. GBS is usually a monophasic disease in which an aberrant immune response to an infection or other trigger damages the peripheral nerves.
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