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http://dx.doi.org/10.1136/bmj.d3536 | DOI Listing |
BMJ Case Rep
December 2024
Ophthalmology, Kasturba Medical College Mangalore, Mangalore, Karnataka, India.
Wernicke's encephalopathy, the acute phase of Wernicke-Korsakoff syndrome, is characterised as a triad of altered mental status, ocular signs and ataxia. Our patient presented with hyperemesis gravidarum, which is a rare aetiology of Wernicke's encephalopathy. The patient did not have any oculomotor abnormalities, which are more common and classically described in Wernicke's triad.
View Article and Find Full Text PDFCureus
October 2024
Internal Medicine, Unidade Local de Saúde Gaia Espinho, Vila Nova de Gaia, PRT.
Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare necrotizing vasculitis affecting small- to medium-sized vessels that can manifest in a multisystemic manner. While the classic triad of rhinosinusitis, asthma, and eosinophilia is commonly associated, it is essential to recognize that these features are not mandatory for diagnosis. We present a case of a 61-year-old woman with a unique EGPA manifestation who was hospitalized because of a seven-month history of weight loss, asthenia, epigastric abdominal pain, peripheral eosinophilia, and paresthesia in the left feet and hand.
View Article and Find Full Text PDFGenes (Basel)
November 2024
Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Background: Autosomal recessive inherited pathogenetic variants in the histidine triad nucleotide-binding protein 1 () gene are responsible for an axonal Charcot-Marie-Tooth neuropathy associated with neuromyotonia, a phenomenon resulting from peripheral nerve hyperexcitability that causes a spontaneous muscle activity such as persistent muscle contraction, impaired relaxation and myokymias.
Methods: Herein, we describe two brothers in whom biallelic variants were identified following a multidisciplinary approach.
Results: The younger brother came to our attention for clinical evaluation of moderate intellectual disability, language developmental delay, and some behavioral issues.
J Pers Med
October 2024
Hand Surgery and Reconstructive Microsurgery Department, CTO Hospital, A.O.U. Città della Salute e della Scienza, 10126 Turin, Italy.
J Orthop Case Rep
October 2024
Department of Orthopedics, Sancheti Institute of Orthopaedics and Rehabilitation, Pune, Maharashtra, India.
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