Cerebellum (London, England) · 2025
PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
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Pereira da Silva Sergio Roberto, Barbosa Renata Montes Garcia, Cruz Patricia Pontes, da Cruz Caldeira Lunielle, de Queiroz Omote Daniel, da Costa Urbano João Cláudio, Castro Matheus Augusto Araújo, Parmera Jacy Bezerra, Magri Fernando, Kok Fernando, Freua Fernando
Аннотация
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare condition caused by mutations in ABHD12. We present the first documented case of PHARC in a Brazilian patient. Describe the clinical and genetic aspects of patients diagnosed with PHARC through a literature review. A literature review was conducted in February 2024 using Pubmed/Medline database. We also report a 37-year-old Brazilian woman diagnosed with PHARC. Between 38 patients diagnosed with this condition, the majority were male (74.35%) and the median age was 35.7 years. The most common symptom reported was ataxia (79.4%). The main finding of Brain MRI was cerebellar atrophy, and demyelinating polyneuropathy was the commonest finding in electroneuromyography, both were found in 28.2% of patients. PHARC syndrome is a rare autosomal recessive condition that is increasingly reported in the literature. Refsum disease and Usher syndrome are the main differential diagnosis. A multidisciplinary approach and follow-up are crucial for accurate diagnosis and treatment.