What's happening in the body?
A problem with the CSF1Rgene affects multiple body systems:
1. Brain & Nervous System
• Structural changes:
(a) Poor white matter development (damage to the brain's "wiring insulation")
(b) Calcium buildup near brain ventricles ("calcified deposits near drainage pipes")
(c) Thinner corpus callosum (the "bridge" between brain halves is underdeveloped)
(d) Smaller cerebellum (affects balance/coordination)
• Common symptoms:
(a) Epileptic seizures (focal type)
(b) Fluid buildup in the brain (hydrocephalus)
2. Bone Problems
• Abnormal hardening:
(a) Denser skull/facial bones ("stone-like" appearance)
(b) Flared ends of long bones ("trumpet-shaped" on X-rays)
Why me/my child?
• The condition requires inheriting one faulty CSF1Rgene from each parent
• Parents are usually healthy "carriers" (no symptoms themselves). However, heterozygous mutations of CSF1Rcan cause another disease named ALSP. Thus, the mild neural phenotypes and the late-onset risk in the parental carriers should be noted.
Common medical tests:
(a) Brain MRI and CT (checks brain structure and skull)
(b) X-rays and bone density scan (measures morphology and hardness)
(c) Genetic testing (finds CSF1Rvariants)
CSF1R BANDDOS