Oxford medical case reports · 2025
Rare presentation of dandy-walker variant syndrome associated with leigh syndrome: a promising therapeutic approach for prognosis in children related in a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Pires Bianca Frigo, Lopo Graziele Ines Silva, Siqueira Anaí Ramoa, Felisberto Luiza Resende, Martini Rafaella Simão, Alves Ana Beatriz Valim, Silva Amanda Carolina Rodrigues, Carvalho Flávia Xavier Lima, Aliseda Aline Pirola, Martins Mariane Martinhon, Salgado Carla Kreuzberg, da Silveira Junior Salum Bueno, Jacob Camila Garcia Ferrari
Аннотация
INTRODUCTION: Dandy-Walker syndrome (D-WS) is a rare congenital brain anomaly that primarily impacts the fourth ventricle and cerebellum. Its variant is even rarer and includes cerebellar dysgenesis, with possible posterior fossa enlargement and variable cerebellar vermis hypoplasia.
CASE REPORT: We present the case of a patient diagnosed late with the Dandy-Walker Syndrome variant, associated with Leigh Syndrome, at a tertiary hospital. The patient received an optimized, multidisciplinary treatment approach to improve prognosis.
DISCUSSION: Early intervention in pediatric neurodegenerative diseases through a multidisciplinary team that includes medical, speech therapy, and physiotherapy support is crucial for a better prognosis in these cases.
CASE REPORT: We present the case of a patient diagnosed late with the Dandy-Walker Syndrome variant, associated with Leigh Syndrome, at a tertiary hospital. The patient received an optimized, multidisciplinary treatment approach to improve prognosis.
DISCUSSION: Early intervention in pediatric neurodegenerative diseases through a multidisciplinary team that includes medical, speech therapy, and physiotherapy support is crucial for a better prognosis in these cases.