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Partial albinism with immunodeficiency: a rare syndrome with prominent posterior fossa white matter changes
1Department of Diagnostic Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Insights
Partial albinism and immunodeficiency (PAID) in infants involves rapid white matter changes and brain tissue loss. This rare genetic disorder primarily affects posterior fossa structures, suggesting a demyelinating nature.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Partial albinism and immunodeficiency (PAID) is a rare, autosomal recessive disorder.
- Understanding its neurological manifestations is crucial for early diagnosis and management.
Purpose of the Study:
- To describe the clinical and neuroimaging experience in infants diagnosed with PAID.
- To characterize the progression of neurological deficits associated with this syndrome.
Main Methods:
- Neuroimaging studies including CT and MRI were performed on five infants with PAID.
- Serial imaging was conducted in four patients to monitor disease progression.
Main Results:
- Rapidly progressive white matter changes and brain tissue loss were observed in three infants over a few months.
- Posterior fossa white matter structures were significantly affected in all four patients who underwent follow-up imaging.
Conclusions:
- PAID should be considered a demyelinating disease due to observed white matter abnormalities.
- Clinicians should consider PAID in infants presenting 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.