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 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.
White
C P
CP
Division of Neurology, University of British Columbia, Vancouver, Canada.
Waldron
M
M
Jan
J E
JE
Carter
J E
JE
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000150:complications* / Q000473:pathology; D000584:Amiloride / Q000627:therapeutic use; D001259:Ataxia / Q000150:complications; D001477:Bartter Syndrome / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D004827:Epilepsy / Q000150:complications; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006801:Humans; D007008:Hypokalemia / Q000188:drug therapy; D008607:Intellectual Disability / Q000150:complications; D007677:Kidney Function Tests; D008274:Magnesium / Q000097:blood; D008278:Magnesium Sulfate / Q000627:therapeutic use; D008297:Male; D014442:Monophenol Monooxygenase / Q000172:deficiency
D008278:Magnesium Sulfate; D000584:Amiloride; D014442:Monophenol Monooxygenase; D008274:Magnesium