RT Journal Article
SR Electronic
T1 Partial albinism with immunodeficiency: a rare syndrome with prominent posterior fossa white matter changes.
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 387
OP 393
VO 13
IS 1
A1 J Brismar
A1 H A Harfi
YR 1992
UL http://www.ajnr.org/content/13/1/387.abstract
AB PURPOSE To describe our experience in infants with partial albinism and immunodeficiency (PAID), a rare, recently recognized, probably autosomal recessive disorder.PATIENTS AND METHODS Five infants suffering from this disease were examined with CT of the brain and four of these patients also underwent MR. Four of the five children also underwent follow-up CT or MR exams.RESULTS Three of the patients followed with serial examinations demonstrated a rapid progress of white matter changes together with a loss of brain tissue over a few months. In all four patients subjected to follow-up, the posterior fossa white matter structures were severely involved during the course of the disease.CONCLUSIONS This syndrome should be added to the list of demyelinating diseases, and should be kept in mind when white matter changes are prominent in the posterior fossa.