Living with Infantile choroidocerebral calcification syndrome
A rare condition with severe intellectual disability and calcium deposits in the brain, starting in infancy.
Understanding Infantile choroidocerebral calcification syndrome
Spinal fluid protein is high. Other signs include crossed eyes, strong reflexes, and foot deformities. GARD notes there have been no further descriptions in the medical literature since 1993. It begins in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Calcium deposits in the brain
- Seizures
- Crossed eyes (strabismus)
- Strong reflexes (hyperreflexia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: choroid plexus calcification and impaired intellectual development; choroido-cerebral calcification syndrome with retardation
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile choroidocerebral calcification syndrome.
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