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A 9-year-old boy presented with worsening dystonias and generalized stiffness of the whole body for 2 months. He was the only child of a nonconsanguineous marriage, with normal birth and perinatal history. He was well until 18 months of age. Thereafter, he developed slowly progressive gait difficulties, intermittent twisting postures of upper limbs, and difficulty in nighttime vision. His hearing, daytime vision, and cognition were unaffected and there was no history of seizures. Parents had sought opinion at age 9 years because of worsening of stiff posturing, loss of ambulation, and difficulty in swallowing for 2 months.
Gadodia A, Kumar A, Sankhyan N, Sharma S, Vasisht N. Neurodegeneration With Pantothenate Kinase SyndromeRetinal and Magnetic Resonance Imaging Findings. Arch Neurol. 2009;66(6):798-799. doi:10.1001/archneurol.2009.64