Choroid Plexus Development Disorders
Development of Choroid Plexus
- Choroid plexus development starts between 6–7 weeks post-conception (p/c).
- Initial formation occurs in the fourth ventricle.
- Later becomes most prominent in the lateral ventricles.
- Achieves adult anatomical configuration by ~20 weeks gestation.
Formation Process:
- Begins as neuroepithelial projections into ventricular cavities.
- These projections form choroidal villi.
- Small cysts/tubules can develop within these villi due to neuroepithelial tissue folding and separation.
Choroid Plexus Cysts (CPC)
Overview:
- Common fetal ultrasound finding, usually benign.
- Typically identified in the second trimester.
- Prevalence: Found in up to 1% of pregnancies.
Clinical Characteristics:
- Usually diagnosed between 16–24 weeks gestation.
- Size typically <10 mm.
- Majority spontaneously resolve by 24 weeks gestation.
Clinical Significance:
- Isolated CPCs (no associated anomalies):
- No increased risk for developmental or neurological impairment.
- No significant long-term clinical implications.
- Association with chromosomal anomalies:
- Frequently seen in trisomy 18 (up to 50% of cases).
- Rarely associated with trisomy 21.
- Congenital infections:
- Bilateral CPCs may rarely indicate congenital infections (e.g., CMV), especially if associated with subependymal germinolysis.
Prognosis and Management:
- Generally excellent if isolated; no specific intervention needed.
- Follow-up ultrasound recommended to confirm resolution.
- Counseling regarding chromosome screening if additional markers or abnormalities present.
Choroid Plexus Papillomas
Definition:
- Rare benign tumors arising from choroid plexus epithelium.
- Typically found within lateral ventricles of fetus.
Clinical Presentation:
- Usually presents with fetal hydrocephalus:
- Due to excessive cerebrospinal fluid (CSF) production.
- Potential obstruction of ventricular outflow foramina.
Imaging and Diagnosis:
- Identified on prenatal ultrasound or fetal MRI.
- Requires postnatal imaging confirmation and neurosurgical evaluation.
Prognosis and Management:
- Management usually involves surgical resection after birth.
- Prognosis favorable if timely intervention provided; complications primarily due to hydrocephalus.
Key Differential Points:
Clinical Recommendations:
- Isolated CPC: reassure parents, limited/no follow-up required.
- Associated CPC findings (e.g., additional ultrasound anomalies):
- Consider chromosome analysis.
- Evaluate maternal infection status (CMV testing if indicated).
- Choroid Plexus Papilloma: Refer for multidisciplinary prenatal and postnatal neurosurgical planning.