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Journal of pediatric neurosciences · 2016

Russell-Silver syndrome associated with low conus medullaris.

Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Gabor Larisa, Canaz Huseyin, Canaz Gokhan, Kara Nursu, Alatas Ibrahim, Bozkus Hakan

Аннотация

Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell-Silver syndrome. We report a rare case of Russell-Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body. Urodynamic study revealed detrusor-sphincter dyssynergia and detrusor overactivity. A decision to follow-up the patient was made because of the suspicion of tethered cord syndrome. Even though tethered cord syndrome is not a common finding in Russell-Silver syndrome, it is important to consider tethered cord syndrome to avoid scoliosis and other long-term complications.