OCULOCEREBRAL HYPOPIGMENTATION SYNDROME-ASSOCIATED WITH BARTTER-SYNDROME

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 an d cutaneous manifestations of this case are distinctly different from those of the syndrome first reported by Cross et al. [1967]. The liter ature is reviewed and an attempt is made at classifying the oculocereb ral hypopigmentation syndromes.