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Published on: September 20, 2018
Oculocerebral hypopigmentation syndrome associated with Bartter syndrome
C P White1, M Waldron, J E Jan
1Division of Neurology, University of British Columbia, Vancouver, Canada.
Abstract:
We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, mental retardation, epilepsy, sensorineural deafness, ataxia, and Bartter syndrome. When combined, these neurocutaneous and renal findings form a previously unreported combination. The neurological and cutaneous manifestations of this case are distinctly different from those of the syndrome first reported by Cross et al. [1967]. The literature is reviewed and an attempt is made at classifying the oculocerebral hypopigmentation syndromes.
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