RESUMEN
Case summary: A 9-month-old entire male domestic longhair cat presented with a history of pathological fractures, chronic musculoskeletal pain and poor growth. Multiple facial and skeletal abnormalities were identified on physical examination and advanced imaging (CT and radiographs). A variant in CTSK was identified in the affected cat following whole-exome sequencing (WES). The cat was managed symptomatically with diet, environmental modifications and analgesia. Relevance and novel information: This is the first report of a cat with a similar clinical presentation and genetic variant to the hereditary human genetic disorder pyknodysostosis. In this case, WES was performed, which often facilitates the diagnosis of various hereditary disorders (ie, a conceptual framework for practicing feline genomic medicine). Despite the severe skeletal and appendicular abnormalities described, the cat was alive more than 2 years after its initial presentation.
RESUMEN
CASE SUMMARY: A 3-year-old neutered male domestic shorthair cat developed pancytopenia 6 months after starting phenobarbital for treatment of recurrent seizures. The cat was switched from phenobarbital to levetiracetam and complete resolution of the pancytopenia was documented within 10 weeks, consistent with phenobarbital-induced pancytopenia. RELEVANCE AND NOVEL INFORMATION: While phenobarbital is frequently used as the first-line treatment for seizures in cats, phenobarbital-induced feline pancytopenia has not been documented in the veterinary literature before. Based on this case, regular monitoring of the complete blood count in cats receiving long-term phenobarbital treatment should be considered. In cases of persistent or severe haematological abnormalities, further investigations are required and treatment discontinuation may be needed in the absence of other causes of pancytopenia.