Intracranial calcifications in childhood: Part 2

Area of Science:

• Pediatric Neurology
• Neuroradiology
• Medical Genetics

Background:

• Intracranial calcification in children can be physiological or pathological.
• Pathological calcification has diverse causes including infectious, congenital, endocrine/metabolic, vascular, and neoplastic origins.
• Part 1 of this series differentiated physiological from pathological calcification and outlined detection methods.

Purpose of the Study:

• To focus on endocrine/metabolic, vascular, and neoplastic causes of intracranial calcification in children.
• To provide a comprehensive overview of these specific etiologies.
• To aid in the differential diagnosis of pediatric intracranial calcification.

Main Methods:

• Review of endocrine/metabolic disorders (parathyroid/thyroid dysfunction, inborn errors of metabolism like mitochondrial, interferonopathies, lysosomal disorders).
• Discussion of vascular causes including malformations, atherosclerosis, and microvasculature disorders.
• Exploration of neoplastic causes and other factors like pseudo-TORCH and healed hematomas.

Main Results:

• Identified key endocrine/metabolic conditions: mitochondrial disorders (MELAS, Kearns-Sayre, Cockayne), interferonopathies (Aicardi-Goutières), lysosomal disorders (Krabbe).
• Detailed vascular etiologies: cavernous/arteriovenous malformations, fistulas, atherosclerosis, COL4A1/COL4A2 diseases.
• Highlighted neoplastic associations and other causes like pseudo-TORCH, healed hematomas, and radiotherapy effects.

Conclusions:

• Endocrine/metabolic, vascular, and neoplastic conditions represent significant causes of pathological intracranial calcification in children.
• Integrating clinical data (age, family history, teratogen exposure) and genetic information is crucial for accurate diagnosis.
• This article provides a framework for understanding and diagnosing these complex cases, complementing Part 1's foundational information.