PT  - JOURNAL ARTICLE
AU  - Brismar, J
AU  - Harfi, H A
TI  - Partial albinism with immunodeficiency: a rare syndrome with prominent posterior fossa white matter changes.
DP  - 1992 Jan 01
TA  - American Journal of Neuroradiology
PG  - 387--393
VI  - 13
IP  - 1
4099  - http://www.ajnr.org/content/13/1/387.short
4100  - http://www.ajnr.org/content/13/1/387.full
SO  - Am. J. Neuroradiol.1992 Jan 01; 13
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.