Partial albinism with immunodeficiency: a rare syndrome with prominent posterior fossa white matter changes.

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.