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Retinal and Magnetic Resonance Imaging Findings

Ankur Gadodia, MD; Atin Kumar, MD, DNB; Naveen Sankhyan, MD; Suvasini Sharma, MD; Naginder Vasisht, MS

Arch Neurol. 2009;66(6):798-799.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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.

On examination, he had a normal head circumference and no dysmorphic features. Neurologic examination revealed severe bilateral rigidity, dystonic posturing of upper and lower limbs, and anarthria. Ophthalmic examination revealed pigmentary changes in the macula and periphery . . . [Full Text of this Article]

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