Feline dystrophin-deficient muscular dystrophy misdiagnosed as Toxoplasma myositis.

Autor: Reynolds RM; Veterinary Specialists of Sydney, Miranda, NSW, Australia., Marks SL; School of Veterinary Medicine, University of California, Davis, CA, USA., Guo LT; Department of Pathology, University of California, San Diego, CA, USA., Shelton GD; Department of Pathology, University of California, San Diego, CA, USA., Graham KJ; Veterinary Specialists of Sydney, Miranda, NSW, Australia.
Jazyk: angličtina
Zdroj: JFMS open reports [JFMS Open Rep] 2024 Aug 02; Vol. 10 (2), pp. 20551169241254227. Date of Electronic Publication: 2024 Aug 02 (Print Publication: 2024).
DOI: 10.1177/20551169241254227
Abstrakt: Case Summary: A 6-month-old male entire domestic shorthair cat presented for presumptive Toxoplasma myopathy that was non-responsive to antiprotozoal therapy. Clinical features included marked macroglossia, dysphagia, regurgitation, truncal muscle hypertrophy, pelvic limb gait abnormalities and megaoesophagus. Relevant diagnostics included serial creatine kinase activity, cardiac troponin I, fluoroscopic swallow study and routine muscle histopathology. Ultimately, post-mortem histopathology with immunostaining demonstrated markedly decreased or absent staining for the rod and carboxy terminus of dystrophin, confirming a dystrophin-deficient muscular dystrophy (MD). The misdiagnosis of toxoplasmosis was based on an increased IgG titre and muscle histopathology submitted to a local laboratory. Treatment for megaoesophagus included vertical feeding of wet food only, sildenafil and omeprazole. Dysphagia and regurgitation improved moderately. Presumptive hyperaesthesia and muscle pain were managed with anti-inflammatory doses of prednisolone. The patient was ultimately euthanased as a result of progressive MD signs and uraemia at 2 years of age.
Relevance and Novel Information: This case report highlights the collective clinical features of MD, as they could be considered pathognomonic for this rare condition and must be differentiated from other myopathies via specific immunostaining of muscle biopsies. This is crucial to obtain a correct and early diagnosis, allowing instigation of potentially valuable treatments. Megaoesophagus is an inconsistent feature in feline MD in addition to the more commonly observed oropharyngeal dysphagia. Management with a canned diet, sildenafil, omeprazole and upright feeding was beneficial with moderate improvement in the frequency of regurgitation. Prednisolone was thought to minimise the presumptive myalgia.
Competing Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
(© The Author(s) 2024.)
Databáze: MEDLINE