Living with Pseudo-TORCH syndrome
A rare genetic condition that looks like a pregnancy infection, with a small head and calcium spots in the brain.
Understanding Pseudo-TORCH syndrome
Babies have a small head and calcium deposits in the brain at birth, along with delayed development and seizures. The course resembles that seen after infections like toxoplasmosis, rubella, cytomegalovirus, or herpes (TORCH), but repeated tests find no infection. GARD lists onset during pregnancy or as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Calcium deposits in the brain
- Seizures
- Stiff muscles (spasticity)
- Brisk reflexes
- Shrinking of the brain's outer layer
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 and genetic specialists.
- 3Consider genetic testing
Changes in OCLN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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
This condition is caused by changes in the OCLN gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: band-like calcification with simplified gyration and polymicrogyria; baraitser-brett-piesowicz syndrome; baraitser-reardon syndrome; bilateral band-like calcification with polymicrogyria; blc-pmg; congenital intrauterine infection-like syndrome
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 Pseudo-TORCH syndrome.
Explore research for Pseudo-TORCH syndrome
Explore actively recruiting Pseudo-TORCH syndrome studies with HealthSpark.
Find actively recruiting studies for Pseudo-TORCH syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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