Neuropathic arthropathy of the shoulder is a relatively rare disorder characterized by destruction of joint secondary to loss of sensory innervation. Bilateral Charcot arthropathy is an even rarer disorder, with very few cases reported in the English literature. We herein present a case of bilateral shoulder arthropathy secondary to syringomyelia with classical clinical and radiological findings. Radiological finding on one side was of resorptive type and resorptive mixed with productive on the other side.
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http://dx.doi.org/10.4103/0972-2327.99718 | DOI Listing |
Ophthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFJ Hist Neurosci
January 2025
Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.
The story of David Ferrier's demonstration at the International Medical Congress in London in August 1881 of a monkey experimentally rendered hemiplegic by a focal surgical brain lesion-prompting Charcot's observation, "C'est un malade!"-is well known as a seminal event in the history of the localization of functions in the cerebral cortex. Less well known is the fact that, on the same occasion, Ferrier demonstrated a second monkey, known as monkey F, apparently deaf as a consequence of bilateral temporo-sphenoidal brain lesions. The purpose of this article is, first, to give a chronological account of this demonstration and subsequent related events, including Ferrier's trial under the Vivisection Act, the publication of the pathological findings in the animal's brain, the dispute about the localization of the "auditory centre" with Edward Schäfer, and the first glimmerings of human homologues of cortical deafness.
View Article and Find Full Text PDFCureus
December 2024
Clinical Neurophysiology, University Hospital of Wales, Cardiff, GBR.
Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy. It presents a wide range of genetic and phenotypic heterogeneity. CMT disease type 1A (CMT1A), caused by PMP22 gene duplication, represents the most common subtype of CMT in Western countries.
View Article and Find Full Text PDFIran J Pathol
July 2024
Department of Molecular Pathology and Cytogenetics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
We report a 4.5-year-old girl with recurrent episodes of bilateral lower limb weakness following periods of upper respiratory tract infection since the age of 1.5 years.
View Article and Find Full Text PDFJ Med Case Rep
November 2024
Department of Internal Medicine, Wollo University, Dessie, Ethiopia.
Background: Charcot-Marie-Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits. Postural tremor as a manifestation of Charcot-Marie-Tooth is seldom present, except in a variant of Charcot-Marie-Tooth subtype 1 (Roussy-Levy syndrome), and its presence often results in a diagnostic dilemma.
Case Presentation: We present a 34-year-old Eritrean man who came to our hospital with a complaint of tremors of the hands of 6 months duration.
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