Autoimmune polyendocrine syndrome type I and brain calcinosis

Area of Science:

• Endocrinology
• Neurology
• Radiology

Background:

• Autoimmune polyendocrine syndrome (APS) is a rare autoimmune disorder.
• Hypoparathyroidism is a recognized endocrinopathy associated with APS.
• Brain calcifications can be a neurological manifestation in APS patients with hypoparathyroidism.

Observation:

• This study investigated brain calcifications in family members with APS and hypoparathyroidism.
• Clinical data, CT scans for calcification extent, and PET-FDG scans were analyzed.
• Varied clinical manifestations were observed among affected family members.

Findings:

• Extensive brain calcifications were identified in affected individuals.
• The only symptomatic family member exhibited significant striatal hypometabolism on PET-FDG scans.
• A correlation between extensive brain calcification and hypometabolism in symptomatic patients is suggested.

Implications:

• These findings highlight the potential for significant neurological complications in APS-associated hypoparathyroidism.
• PET-FDG scans may help identify symptomatic patients with brain calcifications.
• Further research is warranted to understand the pathophysiology and long-term consequences.