Achilles Tendinous Xanthomas With Neurological Abnormalities in Case of Presenile Cataract: A Clue to Cerebrotendinous Xanthomatosis

Abstract

A 34 years old female presented with gradual painless loss of vision in right eye and ataxia with past history of being operated for cataract 12 years ago in left eye. On examination clini-cal examination, she had painless xanthomas of bilateral Achilles tendon, with ataxia and mild to moderate mental retardation and behavioral problems and further enquiring had histo-ry of intractable diarrhea during infancy. Magnetic resonance imaging of brain showed bilat-eral and almost symmetrically increased T2 signal intensity in the cerebellar and periventricu-lar white matter, basal ganglia, dentate nuclei and brainstem along with cerebellar and bilat-eral frontal lobe atrophy.