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Choroid plexus papillomas in two siblings: case report.
Onder Okay1, Ergun Dağlioğlu, Cengiz Yakicier
1Ankara Numune Education and Research Hospital, Neurosurgery Department, Ankara, Turkey.
Turkish Neurosurgery
|July 22, 2009
Summary
Familial choroid plexus papillomas (CPPs) are rare. This study details three lateral ventricle CPPs in siblings, highlighting the need to investigate genetic predispositions in such unusual cases.
Area of Science:
- Neuro-oncology
- Pediatric Neurosurgery
- Genetics
Background:
- Choroid plexus papilloma (CPP) is a rare, benign epithelial brain tumor primarily affecting infants.
- Familial occurrences and genetic predispositions for CPPs are exceptionally uncommon in medical literature.
- Hydrocephalus is a frequent comorbidity associated with these neoplasms.
Observation:
- The case study presents three lateral ventricle choroid plexus papillomas in two siblings, aged 7 months and 2 years.
- Tumors were surgically resected via parietotemporal craniotomy with a superior temporal sulcus approach.
- External ventricular drainage was employed postoperatively to manage hydrocephalus, circumventing the need for a ventriculoperitoneal shunt.
Findings:
- Genetic analysis for p53 gene mutations in the younger sibling yielded negative results.
- Postoperative recovery was uneventful for both patients.
- Follow-up over three years revealed no evidence of tumor recurrence.
Implications:
- The occurrence of bilateral choroid plexus papillomas in siblings is highly unusual and suggests a potential genetic link.
- Further investigation into genetic factors, such as p53 mutations, is warranted for bilateral CPP cases.
- This case underscores the importance of considering hereditary factors in rare pediatric brain tumors.
