Wells jankovic syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Synonyms and Keywords: Spastic paraparesis and deafness

Overview

Wells jankovic syndrome is a chronic neurodegenerative disorder beginning at about age 10 years affecting males causing spastic paraparesis, deafness, tremor, lens opacities, short stature, and hypogonadism with normal values for very long chain fatty acids.

Historical prospective

Wells and Jankovic described Wells jankovic syndrome as a chronic neurodegenerative disorder

Physical examination

Eyes

  • Cataracts

Growth

  • Short stature

Neurological

  • Spastic paraparesis
  • Tremor

Endocrine

  • Hypogonadism

Ears

  • Deafness

Laboratory findings

Normal values for very-long-chain fatty acids


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